syndrome

Summary

Summary: A symptom complex of unknown etiology, that is characteristic of a particular abnormality.

Top Publications

  1. doi Proposal for a new clinical entity, IgG4-positive multiorgan lymphoproliferative syndrome: analysis of 64 cases of IgG4-related disorders
    Y Masaki
    Department of Hematology and Immunology, Kanazawa Medical University, 1 1 Daigaku, Uchinada, Kahoku gun, Ishikawa, 920 0293, Japan
    Ann Rheum Dis 68:1310-5. 2009
  2. ncbi Mutation of the mouse klotho gene leads to a syndrome resembling ageing
    M Kuro-O
    Division of Molecular Genetics, National Institute of Neuroscience, Kodaira, Tokyo, Japan
    Nature 390:45-51. 1997
  3. pmc Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome
    Christian Gilissen
    Department of Human Genetics, Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, The Netherlands
    Am J Hum Genet 87:418-23. 2010
  4. pmc Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder
    Michael E Talkowski
    Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA
    Am J Hum Genet 89:551-63. 2011
  5. doi Cardiomyocytes derived from pluripotent stem cells recapitulate electrophysiological characteristics of an overlap syndrome of cardiac sodium channel disease
    Richard P Davis
    Department of Anatomy and Embryology, Leiden University Medical Center, Einthovenweg 20, 2333 ZC Leiden, The Netherlands
    Circulation 125:3079-91. 2012
  6. pmc Autoimmune response as a mechanism for a Dobzhansky-Muller-type incompatibility syndrome in plants
    Kirsten Bomblies
    Max Planck Institute for Developmental Biology, Tubingen, Germany
    PLoS Biol 5:e236. 2007
  7. ncbi Insulin resistance and chronic cardiovascular inflammatory syndrome
    Jose Manuel Fernandez-Real
    Section of Diabetes, Endocrinology and Nutrition, University Hospital of Girona Dr Josep Trueta, 17007 Girona, Spain
    Endocr Rev 24:278-301. 2003
  8. doi 'ASIA' - autoimmune/inflammatory syndrome induced by adjuvants
    Yehuda Shoenfeld
    The Zabludowicz Center for Autoimmune Diseases, Department of Medicine B Sheba Medical Center, Tel Hashomer, Israel
    J Autoimmun 36:4-8. 2011
  9. pmc Metagenomic analysis of fever, thrombocytopenia and leukopenia syndrome (FTLS) in Henan Province, China: discovery of a new bunyavirus
    Bianli Xu
    Center for Disease Control and Prevention of Henan Province, Zhengzhou, China
    PLoS Pathog 7:e1002369. 2011
  10. ncbi Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome
    Achim Lass
    Institute of Molecular Biosciences, University of Graz, Heinrichstrasse 31, A 8010 Graz, Austria
    Cell Metab 3:309-19. 2006

Research Grants

  1. STATISITICAL DESIGN, MONITORING &COORD. OF VISION CLINICAL TRIALS &EPIDEMIOLOGY
    Keri Hammel; Fiscal Year: 2013
  2. STATISITICAL DESIGN, MONITORING &COORD. OF VISION CLINICAL TRIALS &EPIDEMIOLOGY
    Keri Hammel; Fiscal Year: 2012
  3. Discovery metabolite profiling of the prolyl peptidases
    Alan Saghatelian; Fiscal Year: 2009
  4. Chymase-Mediated MMP Activation in Ishemia Reperfusion Injury
    LOUIS JOSEPH DELL'ITALIA; Fiscal Year: 2013
  5. Serpin Modulation of Inflammatory Vasculitis; Potential for Immunomodulatory Ther
    ALEXANDRA ROSE LUCAS; Fiscal Year: 2010
  6. ASTHMA AND ALLERGIC DISEASE CENTER
    Thomas A Platts Mills; Fiscal Year: 2010
  7. Sogol Mostoufi-Moab; Fiscal Year: 2016
  8. Cardiotrophin-Like Cytokine 1, a Candidate Molecule for the FSGS Factor
    Virginia J Savin; Fiscal Year: 2010
  9. Carole R Mendelson; Fiscal Year: 2016
  10. Role of Chromogranin A in Metabolic Syndrome
    Sushil K Mahata; Fiscal Year: 2013

Detail Information

Publications585 found, 100 shown here

  1. doi Proposal for a new clinical entity, IgG4-positive multiorgan lymphoproliferative syndrome: analysis of 64 cases of IgG4-related disorders
    Y Masaki
    Department of Hematology and Immunology, Kanazawa Medical University, 1 1 Daigaku, Uchinada, Kahoku gun, Ishikawa, 920 0293, Japan
    Ann Rheum Dis 68:1310-5. 2009
    Mikulicz's disease (MD) has been considered as one manifestation of Sjögren's syndrome (SS). Recently, it has also been considered as an IgG(4)-related disorder.
  2. ncbi Mutation of the mouse klotho gene leads to a syndrome resembling ageing
    M Kuro-O
    Division of Molecular Genetics, National Institute of Neuroscience, Kodaira, Tokyo, Japan
    Nature 390:45-51. 1997
    ..A defect in klotho gene expression in the mouse results in a syndrome that resembles human ageing, including a short lifespan, infertility, arteriosclerosis, skin atrophy, ..
  3. pmc Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome
    Christian Gilissen
    Department of Human Genetics, Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, The Netherlands
    Am J Hum Genet 87:418-23. 2010
    Sensenbrenner syndrome/cranioectodermal dysplasia (CED) is an autosomal-recessive disease that is characterized by craniosynostosis and ectodermal and skeletal abnormalities...
  4. pmc Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder
    Michael E Talkowski
    Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA
    Am J Hum Genet 89:551-63. 2011
    ..012). These results suggest that genetic alterations of MBD5 cause features of 2q23.1 microdeletion syndrome and that this epigenetic regulator significantly contributes to ASD risk, warranting further consideration in ..
  5. doi Cardiomyocytes derived from pluripotent stem cells recapitulate electrophysiological characteristics of an overlap syndrome of cardiac sodium channel disease
    Richard P Davis
    Department of Anatomy and Embryology, Leiden University Medical Center, Einthovenweg 20, 2333 ZC Leiden, The Netherlands
    Circulation 125:3079-91. 2012
    ..To address this issue, we generated multiple PSC lines containing a Na(+) channel mutation causing a cardiac Na(+) channel overlap syndrome.
  6. pmc Autoimmune response as a mechanism for a Dobzhansky-Muller-type incompatibility syndrome in plants
    Kirsten Bomblies
    Max Planck Institute for Developmental Biology, Tubingen, Germany
    PLoS Biol 5:e236. 2007
    ..Moreover, our finding that plant immune-system genes are involved in hybrid necrosis suggests that selective pressures related to host-pathogen conflict might cause the evolution of gene flow barriers in plants...
  7. ncbi Insulin resistance and chronic cardiovascular inflammatory syndrome
    Jose Manuel Fernandez-Real
    Section of Diabetes, Endocrinology and Nutrition, University Hospital of Girona Dr Josep Trueta, 17007 Girona, Spain
    Endocr Rev 24:278-301. 2003
    ..The effective administration of antiinflammatory agents in the treatment of insulin resistance and atherosclerosis is only the beginning of a promising approach in the management of these syndromes...
  8. doi 'ASIA' - autoimmune/inflammatory syndrome induced by adjuvants
    Yehuda Shoenfeld
    The Zabludowicz Center for Autoimmune Diseases, Department of Medicine B Sheba Medical Center, Tel Hashomer, Israel
    J Autoimmun 36:4-8. 2011
    ..In recent years, four conditions: siliconosis, the Gulf war syndrome (GWS), the macrophagic myofasciitis syndrome (MMF) and post-vaccination phenomena were linked with previous ..
  9. pmc Metagenomic analysis of fever, thrombocytopenia and leukopenia syndrome (FTLS) in Henan Province, China: discovery of a new bunyavirus
    Bianli Xu
    Center for Disease Control and Prevention of Henan Province, Zhengzhou, China
    PLoS Pathog 7:e1002369. 2011
    Since 2007, many cases of fever, thrombocytopenia and leukopenia syndrome (FTLS) have emerged in Henan Province, China. Patient reports of tick bites suggested that infection could contribute to FTLS...
  10. ncbi Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome
    Achim Lass
    Institute of Molecular Biosciences, University of Graz, Heinrichstrasse 31, A 8010 Graz, Austria
    Cell Metab 3:309-19. 2006
    ..Mutations in the human CGI-58 gene are associated with Chanarin-Dorfman Syndrome (CDS), a rare genetic disease where TG accumulates excessively in multiple tissues...
  11. doi A multicentre retrospective study of 66 Italian children with food protein-induced enterocolitis syndrome: different management for different phenotypes
    S Miceli Sopo
    Department of Pediatrics, University of Sacred Heart Agostino Gemelli Rome, Rome, Italy
    Clin Exp Allergy 42:1257-65. 2012
    Food Protein-Induced Enterocolitis Syndrome (FPIES) is a non-IgE-mediated paediatric disorder triggered by the ingestion of specific food proteins. Many features of this syndrome are not yet well defined.
  12. ncbi Immunodeficiency and chronic myelogenous leukemia-like syndrome in mice with a targeted mutation of the ICSBP gene
    T Holtschke
    Institute of Virology and Immunobiology, University of Wurzburg, Federal Republic of Germany
    Cell 87:307-17. 1996
    ..The second is deregulated hematopoiesis in both ICSBP-/- and ICSBP+/- mice that manifests as a syndrome similar to human chronic myelogenous leukemia...
  13. ncbi A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis
    Laura J Niedernhofer
    Center for Biomedical Genetics Medical Genetic Center Department of Cell Biology and Genetics, Erasmus Medical Center, PO Box 1738, 3000 DR Rotterdam, The Netherlands
    Nature 444:1038-43. 2006
    ..Mild mutations in XPF cause the cancer-prone syndrome xeroderma pigmentosum...
  14. pmc PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome
    Inga Ebermann
    Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany
    J Clin Invest 120:1812-23. 2010
    Usher syndrome is a genetically heterogeneous recessive disease characterized by hearing loss and retinitis pigmentosa (RP). It frequently presents with unexplained, often intrafamilial, variability of the visual phenotype...
  15. pmc Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome
    Ruth Belostotsky
    Division of Pediatric Nephrology, Shaare Zedek Medical Center, Jerusalem, Israel
    Am J Hum Genet 88:193-200. 2011
    ..hyperuricemia, metabolic alkalosis), pulmonary hypertension, and progressive renal failure in infancy (HUPRA syndrome). Analysis of the consanguineous pedigree suggested that the causative mutation is in the nuclear DNA...
  16. doi Chronic 'cough hypersensitivity syndrome': a more precise label for chronic cough
    K F Chung
    National Heart and Lung Institute, Imperial College, Dovehouse St, London SW3 6LY, UK
    Pulm Pharmacol Ther 24:267-71. 2011
    ..eosinophilic conditions such as asthma, gastrooesophageal reflux disease or post-nasal drip (or upper airway syndrome), which implies cause and effect, or with chronic cough associated with other diseases such as COPD, cancer or ..
  17. pmc Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome
    Lisa G Riley
    Genetic Metabolic Disorders Research Unit, Children s Hospital at Westmead, Sydney 2145, Australia
    Am J Hum Genet 87:52-9. 2010
    ..MLASA has previously been associated with PUS1 mutations; hence, the YARS2 mutation reported here is an alternative cause of MLASA...
  18. doi Aquaporin-4 autoimmune syndrome and anti-aquaporin-4 antibody-negative opticospinal multiple sclerosis in Japanese
    T Matsushita
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
    Mult Scler 15:834-47. 2009
    ..Antibodies to aquaporin-4 (AQP4) are found in a fraction of Japanese opticospinal multiple sclerosis (OSMS) patients. However, it remains unknown whether anti-AQP4 antibody-positive and negative OSMS patients possess an identical disease...
  19. pmc Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
    Sarah B Ng
    Department of Genome Sciences, University of Washington, Seattle, Washington, USA
    Nat Genet 42:790-3. 2010
    ..the successful application of exome sequencing to discover a gene for an autosomal dominant disorder, Kabuki syndrome (OMIM%147920). We subjected the exomes of ten unrelated probands to massively parallel sequencing...
  20. pmc Prediction of risk of death and myocardial infarction in the six months after presentation with acute coronary syndrome: prospective multinational observational study (GRACE)
    Keith A A Fox
    Royal Infirmary of Edinburgh, University of Edinburgh, Edinburgh EH16 4SB
    BMJ 333:1091. 2006
    To develop a clinical risk prediction tool for estimating the cumulative six month risk of death and death or myocardial infarction to facilitate triage and management of patients with acute coronary syndrome.
  21. ncbi Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa
    J D Eudy
    Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, NE 68198, USA
    Science 280:1753-7. 1998
    Usher syndrome type IIa (OMIM 276901), an autosomal recessive disorder characterized by moderate to severe sensorineural hearing loss and progressive retinitis pigmentosa, maps to the long arm of human chromosome 1q41 between markers ..
  22. ncbi Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D
    H Bolz
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Nat Genet 27:108-12. 2001
    Usher syndrome type I (USH1) is an autosomal recessive disorder characterized by congenital sensorineural hearing loss, vestibular dysfunction and visual impairment due to early onset retinitis pigmentosa (RP)...
  23. ncbi "Gas and fat embolic syndrome" involving a mass stranding of beaked whales (family Ziphiidae) exposed to anthropogenic sonar signals
    A Fernandez
    Unit of Histology and Pathology, Institute for Animal Health, Veterinary School, University of Las Palmas de Gran Canaria, Spain
    Vet Pathol 42:446-57. 2005
    ..The present study demonstrates a new pathologic entity in cetaceans. The syndrome is apparently induced by exposure to mid-frequency sonar signals and particularly affects deep, long-duration, ..
  24. ncbi Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus
    Yanick J Crow
    Leeds Institute of Molecular Medicine, University of Leeds, St James s University Hospital, Leeds LS9 7TF, UK
    Nat Genet 38:917-20. 2006
    Aicardi-Goutières syndrome (AGS) presents as a severe neurological brain disease and is a genetic mimic of the sequelae of transplacentally acquired viral infection...
  25. doi Cardiorenal syndrome
    Claudio Ronco
    Department of Nephrology, St Bortolo Hospital, Vicenza, Italy
    J Am Coll Cardiol 52:1527-39. 2008
    The term cardiorenal syndrome (CRS) increasingly has been used without a consistent or well-accepted definition...
  26. ncbi Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection
    Yanick J Crow
    Leeds Institute of Molecular Medicine, University of Leeds, St James s University Hospital, Leeds, LS9 7TF, UK
    Nat Genet 38:910-6. 2006
    Aicardi-Goutières syndrome (AGS) is an autosomal recessive neurological disorder, the clinical and immunological features of which parallel those of congenital viral infection...
  27. doi An emerging disease causes regional population collapse of a common North American bat species
    Winifred F Frick
    Center for Ecology and Conservation Biology CECB, Department of Biology, Boston University, 5 Cummington Street, Boston, MA 02215, USA
    Science 329:679-82. 2010
    White-nose syndrome (WNS) is an emerging disease affecting hibernating bats in eastern North America that causes mass mortality and precipitous population declines in winter hibernacula...
  28. ncbi Middle East Respiratory Syndrome (MERS) coronavirus seroprevalence in domestic livestock in Saudi Arabia, 2010 to 2013
    M G Hemida
    These authors contributed equally to this work
    Euro Surveill 18:20659. 2013
    ..neutralisation (ppNT) and microneutralisation (MNT) tests detected no antibodies to Middle East Respiratory Syndrome coronavirus (MERS-CoV) in sheep (n= 100), goats (n= 45), cattle (n= 50) and chickens (n= 240)...
  29. ncbi Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome
    M Bamshad
    Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City 84112, USA
    Nat Genet 16:311-5. 1997
    Ulnar-mammary syndrome is a rare pleiotropic disorder affecting limb, apocrine gland, tooth and genital development...
  30. ncbi The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
    L Crisponi
    Istituto di Ricerca sulle Talassemie ed Anemie Mediterranee CNR, and Dipartimento di Scienze Biomediche e Biotecnologie, Ospedale Regionale per le Microcitemie, Universita degli Studi di Cagliari, Cagliari, Italy
    Nat Genet 27:159-66. 2001
    In type I blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), eyelid abnormalities are associated with ovarian failure. Type II BPES shows only the eyelid defects, but both types map to chromosome 3q23...
  31. pmc 11beta-HSD1 inhibition ameliorates metabolic syndrome and prevents progression of atherosclerosis in mice
    Anne Hermanowski-Vosatka
    Merck Research Laboratories, Merck and Company, Rahway, NJ 07065, USA
    J Exp Med 202:517-27. 2005
    ..We report that pharmacologic inhibition of 11beta-HSD1 has a therapeutic effect in mouse models of metabolic syndrome. Administration of a selective, potent 11beta-HSD1 inhibitor lowered body weight, insulin, fasting glucose, ..
  32. ncbi Epidemiology of general joint hypermobility and basis for the proposed criteria for benign joint hypermobility syndrome: review of the literature
    Lars Remvig
    Clinic of Orthopaedic Medicine and Rehabilitation, Rigshospitalet, Copenhagen University, Denmark
    J Rheumatol 34:804-9. 2007
    ..This literature review of generalized joint hypermobility (GJH) syndromes discusses information regarding sex-, age-, and race-related factors from publications that specifically document validated GJH criteria...
  33. doi The syndrome of cognitive impairment in amyotrophic lateral sclerosis: a population-based study
    Julie Phukan
    Trinity College Institute of Neuroscience, Dublin, Ireland
    J Neurol Neurosurg Psychiatry 83:102-8. 2012
    ..Despite considerable interest, the population-based frequency, clinical characteristics and natural history of cognitive impairment in amyotrophic lateral sclerosis (ALS) are not known...
  34. pmc Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome
    Kazuhiko Arima
    Unit of Translational Medicine, Department of Immunology and Rheumatology, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki 852 8501, Japan
    Proc Natl Acad Sci U S A 108:14914-9. 2011
    Nakajo-Nishimura syndrome (NNS) is a disorder that segregates in an autosomal recessive fashion. Symptoms include periodic fever, skin rash, partial lipomuscular atrophy, and joint contracture...
  35. doi Modulation of Fgfr1a signaling in zebrafish reveals a genetic basis for the aggression-boldness syndrome
    William H J Norton
    Zebrafish Neurogenetics, Laboratory of Neurobiology and Development, Institut de Neurobiologie Alfred Fessard, Unité Propre de Recherche 3294, CNRS, Avenue de la Terrasse, Gif sur Yvette, 91190, France
    J Neurosci 31:13796-807. 2011
    ..The aggression-boldness syndrome links aggression, boldness, and exploratory activity in a novel environment...
  36. doi Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype
    Marcella Zollino
    Istituto di Genetica Medica, Universita Cattolica del Sacro Cuore, Policlinico A Gemelli, Rome, Italy
    Nat Genet 44:636-8. 2012
    The chromosome 17q21.31 deletion syndrome is a genomic disorder characterized by highly distinctive facial features, moderate-to-severe intellectual disability, hypotonia and friendly behavior...
  37. doi The DRESS syndrome: a literature review
    Patrice Cacoub
    Department of Internal Medicine, Pitie Salpetriere Hospital, Assistance Publique Hopitaux de Paris, France
    Am J Med 124:588-97. 2011
    ..The outcome was death in 9 cases. However, no predictive factors for serious cases were found. This better knowledge of DRESS may contribute to improve the diagnosis and management of this syndrome in clinical practice.
  38. doi Differentiation syndrome in patients with acute promyelocytic leukemia treated with all-trans retinoic acid and anthracycline chemotherapy: characteristics, outcome, and prognostic factors
    Pau Montesinos
    Hospital Universitario La Fe, Valencia, Spain
    Blood 113:775-83. 2009
    Differentiation syndrome (DS) can be a life-threatening complication in patients with acute promyelocytic leukemia (APL) undergoing induction therapy with all-trans retinoic acid (ATRA). Detailed knowledge about DS has remained limited...
  39. doi Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009
    Anne T Berg
    Department of Biology, Northern Illinois University, DeKalb, IL 60115, USA
    Epilepsia 51:676-85. 2010
    ..g., epileptic encephalopathies, self-limited electroclinical syndromes) may serve as the basis for organizing knowledge about recognized forms of epilepsy and facilitate identification of new forms...
  40. pmc A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome
    Barbara Kremeyer
    Department of Genetics, Evolution and Environment, University College London, London, UK
    Neuron 66:671-80. 2010
    ..We describe an autosomal-dominant familial episodic pain syndrome characterized by episodes of debilitating upper body pain, triggered by fasting and physical stress...
  41. ncbi Defective myosin VIIA gene responsible for Usher syndrome type 1B
    D Weil
    Unité de Génétique Moléculaire Humaine URA CNRS 1968, Institut Pasteur, Paris, France
    Nature 374:60-1. 1995
    Usher syndrome represents the association of a hearing impairment with retinitis pigmentosa and is the most frequent cause of deaf-blindness in humans...
  42. ncbi A syndrome of multiorgan hyperplasia with features of gigantism, tumorigenesis, and female sterility in p27(Kip1)-deficient mice
    M L Fero
    Department of Basic Sciences, Division of Public Health, Fred Hutchinson Cancer Research Center, Seattle, Washington 98104, USA
    Cell 85:733-44. 1996
    ..The absence of p27 also caused an ovulatory defect and female sterility. Maturation of secondary ovarian follicles into corpora lutea, which express high levels of p27, was markedly impaired...
  43. ncbi The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
    C L Bennett
    Division of Genetics and Development, Department of Pediatrics, University of Washington, Seattle, USA
    Nat Genet 27:20-1. 2001
    ..different mutations of the human gene FOXP3, the ortholog of the gene mutated in scurfy mice (Foxp3), causes IPEX syndrome. Recent linkage analysis studies mapped the gene mutated in IPEX to an interval of 17-20-cM at Xp11. 23-Xq13.3.
  44. pmc Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model
    Philine Wangemann
    Anatomy and Physiology Department, Kansas State University, Manhattan, Kansas, USA
    BMC Med 2:30. 2004
    Pendred syndrome, a common autosomal-recessive disorder characterized by congenital deafness and goiter, is caused by mutations of SLC26A4, which codes for pendrin...
  45. pmc A novel unstable duplication upstream of HAS2 predisposes to a breed-defining skin phenotype and a periodic fever syndrome in Chinese Shar-Pei dogs
    Mia Olsson
    Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden
    PLoS Genet 7:e1001332. 2011
    ..A similar periodic fever syndrome is relatively frequent in the Chinese Shar-Pei breed of dogs...
  46. ncbi Association between C-reactive protein and features of the metabolic syndrome: a population-based study
    M Frohlich
    Department of Internal Medicine II, University of Ulm Medical Center, Germany
    Diabetes Care 23:1835-9. 2000
    To assess the association of circulating levels of C-reactive protein, a sensitive systemic marker of inflammation, with different components of the metabolic syndrome.
  47. ncbi Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome
    Christine Gicquel
    Laboratoire d Explorations Fonctionnelles Endocriniennes, Inserm U515 et UPMC Paris 6, Hopital Armand Trousseau, AP HP, 26 Avenue Arnold Netter, 75012 Paris, France
    Nat Genet 37:1003-7. 2005
    Silver-Russell syndrome (SRS, OMIM 180860) is a congenital disorder characterized by severe intrauterine and postnatal growth retardation, dysmorphic facial features and body asymmetry...
  48. ncbi Left unilateral neglect as a disconnection syndrome
    Paolo Bartolomeo
    INSERM Unit 610, Hopital de la Salpetriere, F 75013, Paris, France
    Cereb Cortex 17:2479-90. 2007
    ....
  49. ncbi Variability in the clinical pattern of cutaneous side-effects of drugs with systemic symptoms: does a DRESS syndrome really exist?
    S H Kardaun
    Br J Dermatol 156:609-11. 2007
  50. pmc Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity
    Yanick J Crow
    Academic Unit of Medical Genetics, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, St Mary s Hospital, University of Manchester, Oxford Road, Manchester M13 9WL, UK
    Hum Mol Genet 18:R130-6. 2009
    Aicardi-Goutières syndrome (AGS) is a genetically determined encephalopathy demonstrating phenotypic overlap both with the sequelae of congenital infection and with systemic lupus erythematosus (SLE)...
  51. pmc Is there a dysexecutive syndrome?
    Donald T Stuss
    Rotman Research Institute, Baycrest, 3560 Bathurst Street, Toronto, Ontario, Canada M6A 2E1
    Philos Trans R Soc Lond B Biol Sci 362:901-15. 2007
    ..Although distinct, these processes are flexibly assembled in response to context, complexity and intention over real time into different networks within the frontal regions and between frontal and posterior regions...
  52. ncbi A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome
    Mark O'Driscoll
    Genome Damage and Stability Centre, University of Sussex, East Sussex, BN1 9RQ, UK
    Nat Genet 33:497-501. 2003
    Seckel syndrome (OMIM 210600) is an autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly and mental retardation...
  53. ncbi The inflammatory syndrome: the role of adipose tissue cytokines in metabolic disorders linked to obesity
    Brent E Wisse
    Division of Metabolism, Endocrinology and Nutrition, Department of Medicine, Harborview Medical Center, University of Washington, Seattle, Washington 98104 2499, USA
    J Am Soc Nephrol 15:2792-800. 2004
    ..diseases than is the presence of a constellation of obesity-related abnormalities now known as the metabolic syndrome. Recognition of this syndrome, which can readily be identified in clinical settings using defined threshold ..
  54. doi Experimental infection of bats with Geomyces destructans causes white-nose syndrome
    Jeffrey M Lorch
    Molecular and Environmental Toxicology Center, University of Wisconsin Madison, Madison, Wisconsin 53706, USA
    Nature 480:376-8. 2011
    White-nose syndrome (WNS) has caused recent catastrophic declines among multiple species of bats in eastern North America...
  55. ncbi Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome
    L A Everett
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Hum Mol Genet 10:153-61. 2001
    Following the positional cloning of PDS, the gene mutated in the deafness/goitre disorder Pendred syndrome (PS), numerous studies have focused on defining the role of PDS in deafness and PS as well as elucidating the function of the PDS-..
  56. ncbi Mammary gland, limb and yolk sac defects in mice lacking Tbx3, the gene mutated in human ulnar mammary syndrome
    Todd G Davenport
    Department of Genetics and Development, College of Physicians and Surgeons of Columbia University, 701 W 168th Street, New York, NY 10032, USA
    Development 130:2263-73. 2003
    Spontanteous mutations in the T-box gene TBX3, result in the human ulnar-mammary syndrome, a dominant developmental disorder characterized by abnormal forelimb and apocrine gland development...
  57. ncbi Malnutrition-inflammation complex syndrome in dialysis patients: causes and consequences
    Kamyar Kalantar-Zadeh
    Division of Nephrology and Hypertension, Geffen School of Medicine at UCLA, Harbor UCLA Medical Center, Torrance, CA 90509 2910, USA
    Am J Kidney Dis 42:864-81. 2003
    ..Hence, malnutrition-inflammation complex syndrome (MICS) is an appropriate term...
  58. ncbi A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
    Bart L Loeys
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Nat Genet 37:275-81. 2005
    ....
  59. pmc Differentially altered Ca2+ regulation and Ca2+ permeability in Cx26 hemichannels formed by the A40V and G45E mutations that cause keratitis ichthyosis deafness syndrome
    Helmuth A Sánchez
    Dominick P Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    J Gen Physiol 136:47-62. 2010
    ..G45E, which are positioned near the TM1/E1 boundary and are associated with keratitis ichthyosis deafness (KID) syndrome. Both of these mutants have been reported to form hemichannels that open aberrantly, leading to "leaky" cell ..
  60. pmc Biochemical characterization of Warsaw breakage syndrome helicase
    Yuliang Wu
    Laboratory of Molecular Gerontology, National Institute on Aging, National Institutes of Health, Baltimore, Maryland 21224, USA
    J Biol Chem 287:1007-21. 2012
    Mutations in the human ChlR1 gene are associated with a unique genetic disorder known as Warsaw breakage syndrome characterized by cellular defects in sister chromatid cohesion and hypersensitivity to agents that induce replication stress...
  61. doi Bridging the gap between traditional Chinese medicine and systems biology: the connection of Cold Syndrome and NEI network
    Tao Ma
    MOE Key Laboratory of Bioinformatics and Bioinformatics Division, Tsinghua National Laboratory of Information Science and Technology Department of Automation, Tsinghua University, Beijing 100084, China
    Mol Biosyst 6:613-9. 2010
    ..When coupling the classical traditional Chinese medicine (TCM) Cold Syndrome and methodology of systems biology, we conformed to the genome, transcriptome, proteome, and metabolome that are ..
  62. pmc Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
    Enza Maria Valente
    Mendel Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy
    Nat Genet 42:619-25. 2010
    Joubert syndrome (JBTS), related disorders (JSRDs) and Meckel syndrome (MKS) are ciliopathies...
  63. pmc Molecular causes for BUBR1 dysfunction in the human cancer predisposition syndrome mosaic variegated aneuploidy
    Saskia J E Suijkerbuijk
    Department of Physiological Chemistry and Cancer Genomics Centre, University Medical Center Utrecht, Utrecht, The Netherlands
    Cancer Res 70:4891-900. 2010
    ..Our findings provide a molecular explanation for chromosomal instability in patients with biallelic genetic mutations in BUBR1...
  64. ncbi Transient left ventricular apical ballooning without coronary artery stenosis: a novel heart syndrome mimicking acute myocardial infarction. Angina Pectoris-Myocardial Infarction Investigations in Japan
    K Tsuchihashi
    Second Department of Internal Medicine, Sapporo Medical University School of Medicine, Japan
    J Am Coll Cardiol 38:11-8. 2001
    To determine the clinical features of a novel heart syndrome with transient left ventricular (LV) apical ballooning, but without coronary artery stenosis, that mimics acute myocardial infarction, we performed a multicenter retrospective ..
  65. ncbi Middle East Respiratory Syndrome coronavirus (MERS-CoV) serology in major livestock species in an affected region in Jordan, June to September 2013
    C B Reusken
    These authors contributed equally to this work
    Euro Surveill 18:20662. 2013
    ..camels, 150 goats, 126 sheep and 91 cows were collected in Jordan, where the first human Middle-East respiratory syndrome (MERS) cluster appeared in 2012...
  66. ncbi A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome
    B Lüdecke
    Universitäts Kinderklinik, Bochum, Germany
    Hum Genet 95:123-5. 1995
    We have examined the molecular basis of Segawa's syndrome in six families with seven affected children...
  67. ncbi X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy
    R S Wildin
    Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, USA
    Nat Genet 27:18-20. 2001
    To determine whether human X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome (IPEX; MIM 304930) is the genetic equivalent of the scurfy (sf) mouse, we sequenced the human ortholog (FOXP3) of the gene mutated in ..
  68. ncbi Epstein-Barr virus-associated B-cell lymphoma in a patient with DNA ligase IV (LIG4) syndrome
    Nariaki Toita
    Department of Pediatrics, Graduate School of Medicine, Hokkaido University, Sapporo, Japan
    Am J Med Genet A 143:742-5. 2007
    ..She had also a set of characteristic clinical features of LIG4 syndrome. Mutations in the LIG4 gene, which plays a critical role in the repair of DNA double-strand breaks, imply a ..
  69. doi Does a testicular dysgenesis syndrome exist?
    Olof Akre
    Cancer Epidemiology Unit, CeRMS and CPO Piemonte, University of Turin, Turin, Italy
    Hum Reprod 24:2053-60. 2009
    The concept of an increasingly common Testicular Dysgenesis Syndrome (TDS) has been widely adopted with little epidemiological appraisal. In this paper we critically review the epidemiologic evidence of the existence of a non-genetic TDS...
  70. ncbi Ligase IV syndrome
    Dimitry A Chistiakov
    Department of Molecular Diagnostics, National Research Center GosNIIgenetika, 1st Dorozhny Proezd 1, 117545 Moscow, Russia
    Adv Exp Med Biol 685:175-85. 2010
    Ligase IV (LIG4) syndrome belongs to the group of hereditary disorders associated with impaired DNA damage response mechanisms...
  71. pmc Unresponsive wakefulness syndrome: a new name for the vegetative state or apallic syndrome
    Steven Laureys
    Dept of Neurology, Cyclotron Research Centre, University Hospital and University of Liège, Belgium
    BMC Med 8:68. 2010
    ..This syndrome has been coined vegetative state...
  72. doi Gait kinematics and passive knee joint range of motion in children with hypermobility syndrome
    Francis A Fatoye
    Department of Health Professions, Faculty of Health, Psychology and Social Care, Manchester Metropolitan University, Elizabeth Gaskell Campus, Hathersage Road, Manchester M13 0JA, UK
    Gait Posture 33:447-51. 2011
    Hypermobility syndrome (HMS) is characterised by generalised joint laxity and musculoskeletal complaints. Gait abnormalities have been reported in children with HMS but have not been empirically investigated...
  73. doi Diagnostic criteria for corticobasal syndrome: a comparative study
    Robert Mathew
    Neurosciences Research Australia, and University of New South Wales, Sydney, Australia
    J Neurol Neurosurg Psychiatry 83:405-10. 2012
    There are no well-established criteria for patients with corticobasal syndrome. The authors have attempted to clarify this area by comparing and applying three sets of well-known criteria (from Toronto, the Mayo Clinic and Cambridge).
  74. doi Syndrome differentiation in modern research of traditional Chinese medicine
    Miao Jiang
    Institute of Basic Research in Clinical Medicine, China Academy of Chinese Medical Sciences, Beijing, China
    J Ethnopharmacol 140:634-42. 2012
    b>Syndrome differentiation (Bian Zheng) in traditional Chinese medicine (TCM) is the comprehensive analysis of clinical information gained by the four main diagnostic TCM procedures: observation, listening, questioning, and pulse analysis, ..
  75. pmc Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome
    Zhimiao Lin
    Department of Dermatology, Peking University First Hospital, Beijing, China
    Am J Hum Genet 90:558-64. 2012
    Olmsted syndrome (OS) is a rare congenital disorder characterized by palmoplantar and periorificial keratoderma, alopecia in most cases, and severe itching. The genetic basis for OS remained unidentified...
  76. doi Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome
    David A Koolen
    Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Nat Genet 44:639-41. 2012
    We show that haploinsufficiency of KANSL1 is sufficient to cause the 17q21.31 microdeletion syndrome, a multisystem disorder characterized by intellectual disability, hypotonia and distinctive facial features...
  77. doi Food protein-induced enterocolitis syndrome, from practice to theory
    Stefano Miceli Sopo
    Department of Paediatrics, Catholic University of Sacred Heart, L go Gemelli 8, Rome 00168, Italy
    Expert Rev Clin Immunol 9:707-15. 2013
    Food protein-induced enterocolitis syndrome (FPIES) is an allergic disease, probably non-IgE-mediated, with expression predominantly in the GI tract. The most characteristic symptom is repeated, debilitating vomiting...
  78. ncbi Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation
    D J Marsh
    Department of Adult Oncology and Charles A Dana Human Cancer Genetics Unit, Dana Farber Cancer Institute, Boston, MA 02115 6084, USA Molecular Oncology Laboratory, Institut Bergo
    Hum Mol Genet 7:507-15. 1998
    ..for two hamartoma syndromes: Cowden disease (CD; MIM 158350) and Bannayan-Zonana (BZS) or Ruvalcaba-Riley-Smith syndrome (MIM 153480)...
  79. doi Lack of conventional dendritic cells is compatible with normal development and T cell homeostasis, but causes myeloid proliferative syndrome
    Tal Birnberg
    Department of Immunology, The Weizmann Institute of Science, Rehovot 76100, Israel
    Immunity 29:986-97. 2008
    ..Our data identify a critical role of cDCs in the control of steady-state hematopoiesis, revealing a feedback loop that links peripheral cDCs to myelogenesis through soluble growth factors, such as Flt3 ligand...
  80. doi Treatment with rituximab in patients with mixed cryoglobulinemia syndrome: results of multicenter cohort study and review of the literature
    C Ferri
    Rheumatology Unit, Department of Internal Medicine, University of Modena e Reggio Emilia, Medical School, Via del Pozzo 71, Modena, Italy
    Autoimmun Rev 11:48-55. 2011
    Mixed cryoglobulinemia syndrome (MCs) is a systemic vasculitis characterized by multiple organ involvement due to the vascular deposition of immune-complexes, mainly the cryoglobulins...
  81. doi Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)
    Pia Ostergaard
    Medical Genetics Unit, Biomedical Sciences, St George s University of London, London, UK
    Nat Genet 43:929-31. 2011
    We report an allelic series of eight mutations in GATA2 underlying Emberger syndrome, an autosomal dominant primary lymphedema associated with a predisposition to acute myeloid leukemia...
  82. ncbi Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis
    Jan Hellemans
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Nat Genet 36:1213-8. 2004
    Osteopoikilosis, Buschke-Ollendorff syndrome (BOS) and melorheostosis are disorders characterized by increased bone density...
  83. ncbi Functional consequences of a CKIdelta mutation causing familial advanced sleep phase syndrome
    Ying Xu
    Department of Neurology, University of California, San Francisco, San Francisco, California 94143 2922, USA
    Nature 434:640-4. 2005
    Familial advanced sleep phase syndrome (FASPS) is a human behavioural phenotype characterized by early sleep times and early-morning awakening...
  84. doi Effect of glatiramer acetate on conversion to clinically definite multiple sclerosis in patients with clinically isolated syndrome (PreCISe study): a randomised, double-blind, placebo-controlled trial
    G Comi
    Institute of Experimental Neurology, Department of Neurology, University Vita Salute, Scientific Institute San Raffaele, Milan, Italy
    Lancet 374:1503-11. 2009
    ..We assessed the efficacy of early treatment with glatiramer acetate in delaying onset of clinically definite multiple sclerosis...
  85. pmc De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
    Jean Baptiste Rivière
    Center for Integrative Brain Research, Seattle Children s Hospital, Seattle, Washington, USA
    Nat Genet 44:440-4, S1-2. 2012
    ..Here, we report a study of Baraitser-Winter syndrome, a well-defined disorder characterized by distinct craniofacial features, ocular colobomata and neuronal ..
  86. pmc Inoculation of bats with European Geomyces destructans supports the novel pathogen hypothesis for the origin of white-nose syndrome
    Lisa Warnecke
    Department of Biology and Centre for Forest Interdisciplinary Research, University of Winnipeg, Winnipeg, MB, Canada R3B 2E9
    Proc Natl Acad Sci U S A 109:6999-7003. 2012
    White-nose syndrome (WNS) is an emerging disease of hibernating bats associated with cutaneous infection by the fungus Geomyces destructans (Gd), and responsible for devastating declines of bat populations in eastern North America...
  87. doi 22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development
    Peter J Scambler
    Molecular Medicine Unit, Institute of Child Health, 30, Guilford St, London WC1N 1EH, UK
    Pediatr Cardiol 31:378-90. 2010
    ..TBX1 maps within the region of 22q11 deleted in humans with DiGeorge or velocardiofacial syndrome. Mice haploinsufficient for Tbx1 have phenotypes that recapitulate major features of the syndrome, notably ..
  88. doi Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?
    Katharina Wimmer
    Department of Medical Genetics, Medical University of Vienna, Währingerstrasse 10, 1090, Vienna, Austria
    Hum Genet 124:105-22. 2008
    ..mutations in one of the mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2 cause the dominant adult cancer syndrome termed Lynch syndrome or hereditary non-polyposis colorectal cancer...
  89. pmc Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23
    J M Bork
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Am J Hum Genet 68:26-37. 2001
    ..A northern blot analysis of CDH23 showed a 9.5-kb transcript expressed primarily in the retina. CDH23 is also expressed in the cochlea, as is demonstrated by polymerase chain reaction amplification from cochlear cDNA...
  90. ncbi The malnutrition, inflammation, and atherosclerosis (MIA) syndrome -- the heart of the matter
    Roberto Pecoits-Filho
    Department of Clinical Science, Karolinska Institute, Huddinge University Hospital, Stockholm, Sweden
    Nephrol Dial Transplant 17:28-31. 2002
    ..between malnutrition, inflammation and atherosclerosis in this patient population suggest the presence of a syndrome we have called malnutrition, inflammation, and atherosclerosis (MIA), which is associated with an exceptionally ..
  91. ncbi Diffusion tensor imaging demonstrates fiber impairment in Susac syndrome
    I Kleffner
    Department of Neurology, University of Muenster, Albert Schweitzer Str 33, 48129 Muenster, Germany
    Neurology 70:1867-9. 2008
  92. doi The Night Eating Questionnaire (NEQ): psychometric properties of a measure of severity of the Night Eating Syndrome
    Kelly C Allison
    University of Pennsylvania School of Medicine Center for Weight and Eating Disorders, 3535 Market Street, Ste 3021, Philadelphia, PA 19104 3309, United States
    Eat Behav 9:62-72. 2008
    ..of this study was to evaluate the Night Eating Questionnaire (NEQ) as a measure of severity of the Night Eating Syndrome (NES). The 14-item NEQ assesses the behavioral and psychological symptoms of NES...
  93. ncbi EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome
    M Delepine
    Centre National de Genotypage, Evry, France
    Nat Genet 25:406-9. 2000
    Wolcott-Rallison syndrome (WRS) is a rare, autosomal recessive disorder characterized by permanent neonatal or early infancy insulin-dependent diabetes. Epiphyseal dysplasia, osteoporosis and growth retardation occur at a later age...
  94. ncbi A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease
    B G Bruneau
    Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
    Cell 106:709-21. 2001
    ..study the mechanisms by which TBX5 haploinsufficiency causes cardiac and forelimb abnormalities seen in Holt-Oram syndrome. Tbx5 deficiency in homozygous mice (Tbx5(del/del)) decreased expression of multiple genes and caused severe ..
  95. ncbi Symptom assessment tool for overactive bladder syndrome--overactive bladder symptom score
    Yukio Homma
    Department of Urology, Japan Red Cross Medical Center, Tokyo, Japan
    Urology 68:318-23. 2006
    Overactive bladder (OAB) is a common symptom syndrome with urgency, urinary frequency, and urgency incontinence. To collectively express OAB symptoms, we developed the overactive bladder symptom score (OABSS).
  96. pmc Is there an association between shift work and having a metabolic syndrome? Results from a population based study of 27,485 people
    B Karlsson
    Occupational Medicine, Department of Public Health and Clinical Medicine, University of Umea, Sweden
    Occup Environ Med 58:747-52. 2001
    ..Shift work has been associated with an increased risk of CVD. Risk factors and causal pathways for this association are only partly known...
  97. ncbi Macrophage activation syndrome
    Angelo Ravelli
    Pediatria II, Istituto G Gaslini, Universita di Genova, Italy
    Curr Opin Rheumatol 14:548-52. 2002
    Macrophage activation syndrome (MAS) is a serious complication of childhood systemic inflammatory disorders that is thought to be caused by excessive activation and proliferation of T lymphocytes and macrophages...
  98. ncbi The severe cardiorenal syndrome: 'Guyton revisited'
    Lennart G Bongartz
    Department of Cardiology, Heart Lung Centre Utrecht, Utrecht, The Netherlands
    Eur Heart J 26:11-7. 2005
    ..We propose the severe cardiorenal syndrome (SCRS), a pathophysiological condition in which combined cardiac and renal dysfunction amplifies progression of ..
  99. ncbi 11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations
    Irene Netchine
    Hopital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Paris 75012, France
    J Clin Endocrinol Metab 92:3148-54. 2007
    Russell-Silver syndrome (RSS), characterized by intrauterine and postnatal growth retardation, dysmorphic features, and frequent body asymmetry, spares cranial growth...
  100. ncbi CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome
    J Marcelino
    Department of Genetics and Center for Human Genetics, Case Western Reserve University and University Hospitals of Cleveland, Cleveland, Ohio, USA
    Nat Genet 23:319-22. 1999
    ..We have studied the autosomal recessive disorder camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP; MIM 208250) to identify biological pathways that lead to synoviocyte hyperplasia, the principal ..
  101. ncbi Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome
    S Chavanas
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Nat Genet 25:141-2. 2000
    ..eleven different mutations in SPINK5, encoding the serine protease inhibitor LEKTI, in 13 families with Netherton syndrome (NS, MIM256500). Most of these mutations predict premature termination codons...

Research Grants89

  1. STATISITICAL DESIGN, MONITORING &COORD. OF VISION CLINICAL TRIALS &EPIDEMIOLOGY
    Keri Hammel; Fiscal Year: 2013
    ..Title: Ocular Impact of X Chromosome Karyotype and Sex Hormones in Turner Syndrome and Premature Ovarian Failure Number: 07-EI-0145 Summary: Women with premature ovarian failure (POF) are at risk ..
  2. STATISITICAL DESIGN, MONITORING &COORD. OF VISION CLINICAL TRIALS &EPIDEMIOLOGY
    Keri Hammel; Fiscal Year: 2012
    ..Title: Ocular Impact of X Chromosome Karyotype and Sex Hormones in Turner Syndrome and Premature Ovarian Failure Number: 07-EI-0145 Summary: Women with premature ovarian failure (POF) are at risk ..
  3. Discovery metabolite profiling of the prolyl peptidases
    Alan Saghatelian; Fiscal Year: 2009
    ..Furthermore, the application of DMP to peptidases will demonstrate the generality of this approach for the future characterization of medically relevant enzymes and signaling pathways. ..
  4. Chymase-Mediated MMP Activation in Ishemia Reperfusion Injury
    LOUIS JOSEPH DELL'ITALIA; Fiscal Year: 2013
    ..in the clinical arena that prevents or attenuates I/R injury in the patient presenting with acute coronary syndrome (1,2)...
  5. Serpin Modulation of Inflammatory Vasculitis; Potential for Immunomodulatory Ther
    ALEXANDRA ROSE LUCAS; Fiscal Year: 2010
    ..arterial aneurysm formation, manifesting as sudden loss of vision, stroke, myocardial ischemia, aortic arch syndrome, and aneurysm rupture. Once diagnosed, the IVS are considered medical emergencies...
  6. ASTHMA AND ALLERGIC DISEASE CENTER
    Thomas A Platts Mills; Fiscal Year: 2010
    ..children in rural and city schools, focusing on the interaction between physical fitness, obesity, and metabolic syndrome on the one hand, and allergic responses and inflammation on the other...
  7. Sogol Mostoufi-Moab; Fiscal Year: 2016
    ..These findings herald significant risks for skeletal fragility and the metabolic syndrome, with substantil impact on health-related quality of life...
  8. Cardiotrophin-Like Cytokine 1, a Candidate Molecule for the FSGS Factor
    Virginia J Savin; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): Steroid resistant nephrotic syndrome and focal segmental glomerulosclerosis (FSGS) pose especially difficult clinical problems because the disease recurs in about 30% of such patients after renal ..
  9. Carole R Mendelson; Fiscal Year: 2016
    ..Inadequate surfactant production by lungs of prematurely born infants can result in respiratory distress syndrome (RDS), the leading cause of neonatal morbidity and mortality in the U.S...
  10. Role of Chromogranin A in Metabolic Syndrome
    Sushil K Mahata; Fiscal Year: 2013
    ..applicant): Project Summary: Obesity, lipodystrophy, diabetes and hypertension collectively constitute "Metabolic Syndrome" (MS)...
  11. Genome-wide recombination as a risk factor for nondisjunction
    NATASHA D HOLLIS; Fiscal Year: 2010
    ..For years, trisomy 21, also known as Down Syndrome (DS), has been used as a model to study human nondisjunction...
  12. Brain mast cells and Chronic Fatigue Syndrome
    Theoharis C Theoharides; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Chronic Fatigue Syndrome (CFS) is a complex disease with a prevalence as high as 1%...
  13. Autonomic, Endothelial, and Inflammatory Correlates of Sleep Duration
    MERCEDES RENEE CARNETHON; Fiscal Year: 2012
    ..Metabolic syndrome components (blood pressure, lipids, glucose, anthropometrics), the prevalence of mood disorders, medical history, ..
  14. Multi-targeted Countermeasures against Acute and Delayed Effects of OP Exposure
    John A Butera; Fiscal Year: 2013
    ..Inhibitors of PARP-1 have been investigated pre-clinically and clinically for cardiac ischemia, hemorrhagic shock syndrome, stroke, traumatic CNS injury, diabetes, inflammation, and cancer...
  15. Emilio B Gonzalez; Fiscal Year: 2014
    ..with thrombosis and pregnancy loss in patients with systemic lupus erythematosus (SLE) and antiphospholipid syndrome (APS). Thrombosis is an important cause of morbidity and mortality in APS and SLE patients with aPL Abs...
  16. Patrice G Guyenet; Fiscal Year: 2015
    ..as obstructive sleep apnea (OSA), the treatment of pain with opiates, central sleep apnea, sudden infant death syndrome (SIDS), and rare diseases such as congenital central hypoventilation syndrome (CCHS)...
  17. NICOLE RENEE TARTAGLIA; Fiscal Year: 2015
    DESCRIPTION (provided by applicant): Klinefelter syndrome (KS/XXY) is the most common chromosomal abnormality in humans (1:650 males) and represents an excellent model in which to study the interplay between genetic factors and ..
  18. Merrill D Benson; Fiscal Year: 2014
    ..fever (FMF), and a group of autosomal dominant syndromes including TNF-alpha receptor associated periodic syndrome (TRAPS), Muckle-Wells syndrome, familial cold urticaria (FCAS), and hyper- immunoglobulin D syndrome...
  19. Charles W Wilkinson; Fiscal Year: 2016
    ..easily mistaken for behavioral symptoms of posttraumatic stress disorder (PTSD) and chronic postconcussive syndrome, including fatigue, anxiety, depression, irritability, insomnia, and decreased quality of life (QoL), as well as ..
  20. Ming Zhou; Fiscal Year: 2014
    ..drug target for treating a variety of conditions ranging from hypertension, congestive heart failure, to syndrome of inappropriate secretion of antidiuretic hormone compounds (SIADH)...
  21. Agrin/alpha 3 Na,K-ATPase signaling at the neuromuscular junction
    Martin A Smith; Fiscal Year: 2012
    ..In many neuromuscular diseases, such as spinal muscular atrophy, myasthenia gravis and congenital myasthenic syndrome, the function of the neuromuscular junction is compromised resulting in profound muscle weakness and death...
  22. Impact of the P479L Variant in CPT1A on Infant Mortality in Alaska
    David M Koeller; Fiscal Year: 2011
    ..of CPT1A deficiency can present with a wide variety of symptoms, including hypoglycemia, seizures, and Reyes syndrome, which is characterized by liver dysfunction, hypoketotic hypoglycemia, and coma...
  23. Sphingolipid Metabolism in Drosophila Development
    Julie D Saba; Fiscal Year: 2013
    ..of the AKT pathway is relevant to the vastly important medical problem of insulin- resistance and metabolic syndrome, whereas devising new pharmacological agents to inhibit PI3K/AKT signaling is a major objective in the treatment ..
  24. MOLECULAR BASIS OF INSULIN RESISTANCE
    Maureen J Charron; Fiscal Year: 2010
    The incidence of Type 2 diabetes mellitus (T2DM) and the Metabolic Syndrome has reached epidemic proportions. Human and rodent studies provide strong support for a genetic predisposition to these pathologies...
  25. Samantha M Yeligar; Fiscal Year: 2014
    ..by applicant): Chronic alcohol abuse increases patients'risk of developing Acute Respiratory Distress Syndrome (ARDS) and respiratory infections...
  26. METABOLIC SYNDROME AND PERIODONTITIS IN POSTMENOPAUSAL WOMEN
    Michael J LaMonte; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Metabolic syndrome (Metsyn) is a condition of coexisting abnormalities in glucose, lipid, blood pressure, and body fat homeostasis, that affects more than half of U.S. adults 55 years and older...
  27. Genetic and physiological causes of inherited Vascular and Metabolic Diseases
    Arya Mani; Fiscal Year: 2013
    ..A cluster of metabolic phenotypes known as metabolic syndrome has been established as a major risk factor for CAD...
  28. Patient-Derived Stem Cells for Phosphoproteomic Profiling Neuropsychopathology
    Dieter A Wolf; Fiscal Year: 2011
    ..g., Rett Syndrome, &has differentiated them to neural lineages...
  29. Donald A McClain; Fiscal Year: 2016
    ..as a measure of tissue iron levels and not as a reflection of inflammation is elevated in diabetes and metabolic syndrome. Ferritin also correlates inversely with levels of adiponectin, the insulin sensitizing adipokine...
  30. Robert T Means; Fiscal Year: 2014
    ..has led many investigators to consider that this feature denotes the dominant pathophysiologic mechanism of this syndrome. Hepcidin is an antibacterial protein which is produced in the liver, circulates in the blood, and is excreted in ..
  31. Rac GTPase signaling during embryonic salivary gland branching morphogenesis
    Sharon Sequeira; Fiscal Year: 2012
    ..xerostomia (dry mouth) are increasingly common occurrences and are often the consequences of: 1) Sjogren's Syndrome, an autoimmune disease that targets saliva-secreting acinar tissue, 2) radiation and chemotherapeutic regimens ..
  32. Paul E Micevych; Fiscal Year: 2016
    ..This type of infertility exhibits excess estrogen production without ovulation that can lead to polycystic ovary syndrome, irregular vaginal bleeding, metabolic abnormalities as well as endometrial polyps, hyperplasia, and even cancer.
  33. Controlling Radiation Injury by TLR5 Agonists
    Andrei V Gudkov; Fiscal Year: 2012
    ..In contrast, GI radiation syndrome remains poorly treatable resulting in significant mortality and reduced quality of life for survivors...
  34. Judith A James; Fiscal Year: 2016
    ..research projects focus on thrombotic thrombocytopenic purpura, systemic lupus erythematosus, and Sj"gren's syndrome, which are also focuses of the Clinical Center...
  35. Community Participation Research of Breastfeeding Disparities in African American
    Tamar Ringel Kulka; Fiscal Year: 2009
    ..type I and type II diabetes, episodes of infant diarrhea, and incidents of childhood leukemia and sudden death syndrome. Also, exclusive breastfeeding for more than 6 months has been shown to be associated with leaner body shape at ..
  36. Charlotte Cunningham-Rundles; Fiscal Year: 2015
    ..to haplo insufficiency;we will investigate this by examining B cell function in patients with the Smith Magenis syndrome, who are heterozygous for a null TACI allele due to a chromosomal deletion...
  37. Maternal obesity depresses essential fatty acid transport in the placenta
    PERRIE F O'TIERNEY-GINN; Fiscal Year: 2012
    ..babies are at risk for developing chronic diseases including adult-onset coronary heart disease and the metabolic syndrome. Our preliminary data show that male offspring of overweight and obese mothers have lower levels of ..
  38. Model of Timothy Syndrome to Screen Drugs with Induced Pluripotent Stem Cells
    Masayuki Yazawa; Fiscal Year: 2013
    ..Long QT syndrome (LQTS) can have a genetic basis or be induced by drug exposure or physiological stress...
  39. Masayuki Yazawa; Fiscal Year: 2015
    ..Long QT syndrome (LQTS) can have a genetic basis or be induced by drug exposure or physiological stress...
  40. ICSBP Function During Myeloid Differentiation
    ELIZABETH ANN EKLUND; Fiscal Year: 2011
    ..First, ICSBP-expression is decreased in bone marrow samples from subjects with myelodysplastic syndrome (MDS) and chronic myeloid leukemia (CML)...
  41. Petr Tvrdik; Fiscal Year: 2014
    ..Astrocytes, for example, have been implicated in neurodevelopmental diseases such as Rett syndrome, fragile X mental retardation and in epileptogenesis...
  42. John S Davis; Fiscal Year: 2014
    ..with aberrant ovarian steroid secretion are hypertension, diabetes, obesity, osteoporosis, polycystic ovary syndrome and neoplasms of the colon, breast, ovary, and uterus...
  43. Sharon M Moe; Fiscal Year: 2014
    ..This syndrome of interrelated bone disease, extraskeletal calcification, and disordered mineral metabolism is called Chronic ..
  44. Protein Nitration in the Placenta
    Leslie Myatt; Fiscal Year: 2012
    ..The maternal syndrome of preeclampsia appears to be linked to inadequate trophoblast invasion, placental hypoxia and oxidative stress ..
  45. UTPAL BHAGIRATH PAJVANI; Fiscal Year: 2015
    ..of insulin resistance, or application of a known therapeutic agent from cancer biology to the metabolic syndrome. The goals of the proposed training are to provide training and mentoring to prepare Dr...
  46. Thalachallour Mohanakumar; Fiscal Year: 2015
    DESCRIPTION (provided by applicant): Chronic rejection, clinically diagnosed as Bronchiolitis obliterans Syndrome (BOS), is the most significant long term cause of morbidity and mortality following human lung transplantation (LTx)...
  47. Dengue Infected Endothelial Cells Enhance Immune Cell Activation
    Erich R Mackow; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Dengue fever (DF), dengue hemorrhagic fever (DHF) and dengue shock syndrome (DSS) are diseases caused by 4 serotypes of dengue virus (DV)...
  48. Osteocalcin and Metabolic Risk Factors. The Framingham Study
    Yi Hsiang Hsu; Fiscal Year: 2011
    ..locally on the skeleton, but may also be involved in the pathogenesis of insulin resistance and the metabolic syndrome. However, the underlying mechanisms for how OC interacting with adipocytes, pancreatic 2 cells and other ..
  49. MARK L DELL'ACQUA; Fiscal Year: 2016
    ..in neurological disorders such as Alzheimer's and epilepsy and mental health disorders such as Down syndrome and schizophrenia...
  50. W Timothy Garvey; Fiscal Year: 2016
    DESCRIPTION (provided by applicant): The spectrum of cardiometabolic disease encompasses the Metabolic Syndrome, Pre-diabetes, Type 2 Diabetes (T2DM), and cardiovascular disease, and these diseases are responsible for a huge burden of ..
  51. John H Postlethwait; Fiscal Year: 2016
    ..of possible mechanisms for the current increase in human reproductive disease, including testicular dysgenesis syndrome and polycystic ovary syndrome increasingly observed in developed countries...
  52. Christie P Thomas; Fiscal Year: 2014
    ..This syndrome recapitulates the proteinuria and hypertension frequently seen in patients undergoing chemotherapy with anti-VEGF ..
  53. ARUNKUMAR GOVINDAKARNAVAR; Fiscal Year: 2016
    ..that a Blood profile including Complete Blood Count and Blood Culture as well as for those with neurological syndrome lumbar puncture is clinically indicated for patient management...
  54. Donald B Jump; Fiscal Year: 2015
    ..Obese humans with diabetes (NIDDM), metabolic syndrome (MetS) or non-alcoholic fatty liver disease (NAFLD), however, have low a low ratio of 20:4w6 relative to 18:2w6 ..
  55. FOXP3-microRNA146-NFkB Axis in Tumor Suppression
    Lizhong Wang; Fiscal Year: 2013
    ..family and responsible for X-linked IPEX (Immunodysregulation, Polyendocrinopathy, and Enteropathy, Xlinked) syndrome in mice and humans...
  56. Small Molecule targeting of NADPH oxidase in neutrophils
    Marie Dominique Filippi; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): Acute lung injury (ALI) and Acute Respiratory Distress Syndrome (ARDS) are characterized by a rapid and severe respiratory failure, arising after clinical events including major surgery, trauma, ..
  57. The genetics and pathophysiology of impaired Wnt signaling in metabolic syndrome
    Arya Mani; Fiscal Year: 2012
    Metabolic syndrome is a major risk factor for development of diabetes and coronary artery disease (CAD), two most common causes of morbidity and mortality worldwide...
  58. PATHOPHYSIOLOGY OF THE ENDOTHELIUM
    Francis W Luscinskas; Fiscal Year: 2013
    ..processes, including atherosclerosis, autoimmunity, allograft rejection, the diabetes-metabolic syndrome, hemostasis and thrombosis, and wound healing...
  59. Perrie F O'Tierney-Ginn; Fiscal Year: 2015
    ..babies are at risk for developing chronic diseases including adult-onset coronary heart disease and the metabolic syndrome. Our preliminary data show that male offspring of overweight and obese mothers have lower levels of ..
  60. ECG-derived cardiopulmonary coupling biomarkers of sleep, sleep-breathing, and ca
    Robert J Thomas; Fiscal Year: 2010
    ..g., obesity hypoventilation syndrome) or more (e.g., central sleep apnea) sensitive to O2 and CO2 fluctuations...
  61. Lactoferrin Enhances Growth and Reduces Nosocomial Infection in Preterm Infants
    Karel Petrak; Fiscal Year: 2009
    ..enterocolitis, urinary tract infection, and meningitis] and incidence of "NEC Scares", "neonatal sepsis syndrome" or "systemic inflammatory response syndrome" without proven evidence of infection...
  62. Chemical modulators of Tet-family proteins
    Anjana Rao; Fiscal Year: 2010
    ..and recognition of 5mC have been linked to developmental abnormalities and genetic diseases, including Rett syndrome, an autism spectrum disorder...
  63. Plant-Derived Estrogens and Cell Proliferation
    Emma Shtivelman; Fiscal Year: 2011
    ..also known as visceral fat is known to produce cytokines that cause inflammation which can lead to the metabolic syndrome. The metabolic syndrome represents a major public health burden because it increases the risk of cardiovascular ..
  64. Cell signaling as a leukemia biomarker
    JAMES WILLIAM JACOBBERGER; Fiscal Year: 2013
    ..of this proposal are to develop a system to monitor patients with pre-leukemic conditions like myelodysplastic syndrome (MDS) and myeloid proliferative neoplasms (MPN) for early detection of leukemic transition...
  65. Ghrelin: Behavioral, Anatomical, and Physiological Components of Obesity
    BRETT JOHN WARREN TEUBNER; Fiscal Year: 2011
    ..Circulating ghrelin is highest in humans with the Prader-Willi Syndrome (PWS), the most common genetic form of life-threatening obesity, who are prodigious food hoarders...
  66. Factors that Initiate Arrhythamias in Long QT Syndrome
    Guy Salama; Fiscal Year: 2006
    ..Sympathetic imbalance has been implicated as a trigger of ventricular arrhythmias in the long QT syndrome (LQTS) by enhancing spatial heterogeneities of i) action potential durations (APDs), ii) dispersion of ..
  67. MOLECULAR BASIS FOR DRUG INDUCED CARDIOTOXICITY IN AIDS
    CRAIG CLARKSON; Fiscal Year: 2001
    ..to result in prolongation of the QT interval of the electrocardiogram and development of an acquired long QT syndrome. This syndrome is associated with a high incidence of polymorphic ventricular arrhythmias, torsade de pointes, ..
  68. Exon capture and large-scale sequencing for disease-cause identification, early d
    Friedhelm Hildebrandt; Fiscal Year: 2010
    ..and large-scale sequencing for disease-cause identification, early detection and drug discovery in nephrotic syndrome. Background: Chronic kidney diseases (CKD) take one of the highest tolls on human health...
  69. Bioactive Peptides for Mitigation of AGS and Acute Radiation Injury
    Lurong Zhang; Fiscal Year: 2010
    ..In acute radiation injury (ARI), the major causes of death are the acute gastrointestinal syndrome (AGS) and BMS (bone marrow syndrome)...
  70. Correction of neural abnormalities in Hurler syndrome
    Pankaj Gupta; Fiscal Year: 2003
    Progressive neurological dysfunction and mental retardation are among the most devastating consequences of Hurler syndrome (mucopolysaccharidosis type I), the most common inherited disorder of glycosaminoglycan metabolism usually ..
  71. Anti- IL5 therapy for Churg-Strauss Syndrome: a double blind randomized, placebo-
    Michael E Wechsler; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): Churg-Strauss syndrome (CSS) is a complex syndrome associated with asthma, anti-neutrophil cytoplasmic antibodies, and eosinophilic vasculitis involving multiple organs including the lungs, heart, ..
  72. GUIDING VISUAL ATTENTION TO ENHANCE DISCRIMINATION LEARNING
    Michael T Carlin; Fiscal Year: 2011
    ..g., Down syndrome, autism)...
  73. RISK SCORE FOR CORONARY ANEURYSMS IN KAWASAKI SYNDROME
    Jane Newburger; Fiscal Year: 1992
    Kawasaki syndrome is an acute vasculitis of infancy and childhood which results in coronary artery lesions in 15 to 25% of affected children...
  74. The Magnesium and Metabolic Syndrome Trial
    Stella Lucia Volpe; Fiscal Year: 2010
    ..Supplementation in individuals with the metabolic syndrome could improve insulin sensitivity and prevent or delay the onset of type 2 diabetes mellitus and its ..
  75. Glucocorticoid Receptor Function in Steroid Resistant Childhood Nephrotic Syndrom
    JORGE A INIGUEZ LLUHI; Fiscal Year: 2010
    Nephrotic Syndrome, characterized by massive proteinuria, hypoalbuminemia and edema, is one of the most frequently seen kidney diseases in children...
  76. Screening for Jervell and Lange-Nielsen Syndrome
    Ruey Kang R Chang; Fiscal Year: 2010
    ..The congenital long QT syndrome (LQTS) is a genetic disorder characterized by a prolonged QT interval on the electrocardiogram (ECG) and life-..
  77. Mouse Models to Characterize the Role of Lrp6 in Metabolic Syndrome
    Bart O Williams; Fiscal Year: 2010
    ..the low density lipoprotein receptor related protein 6 (LRP6) developed CVD at a very early age due to metabolic syndrome (a constellation of symptoms which includes high serum levels of LDL and triglycerides, hypertension, and ..
  78. Cardiofaciocutaneous Syndrome & Noonan Syndrome Meeting
    Amy Roberts; Fiscal Year: 2006
    This grant application requests support for an international symposium entitled, "Cardiofaciocutaneous Syndrome and Noonan Syndrome Scientific Meeting 2005". The meeting will be held April 2006, Basking Ridge, NJ...
  79. Development of Population-Based Screening for DiGeorge Syndrome Type 1
    AOY MITCHELL; Fiscal Year: 2009
    DESCRIPTION (provided by applicant): DiGeorge syndrome type 1 (DGS1) is estimated to be the most prevalent inheritable genetic deletion syndrome, occurring in 1 per 4,000 live births...
  80. Scientific Conference on Moebius Syndrome
    VICKI MCCARRELL; Fiscal Year: 2006
    unreadable] DESCRIPTION (provided by applicant): Moebius syndrome is a rare, congenital (present from birth) disorder defined by the partial or complete absence of the 6th and 7th cranial nerves, which control eye movements and facial ..