chromosome deletion

Summary

Summary: Actual loss of a portion of the chromosome.

Top Publications

  1. pmc Targeted chromosomal deletions in human cells using zinc finger nucleases
    Hyung Joo Lee
    Department of Chemistry, Seoul National University, Seoul, South Korea
    Genome Res 20:81-9. 2010
  2. ncbi Genomic aberrations and survival in chronic lymphocytic leukemia
    H Dohner
    Department of Internal Medicine III University of Ulm, Germany
    N Engl J Med 343:1910-6. 2000
  3. pmc A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
    Santhosh Girirajan
    Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA
    Nat Genet 42:203-9. 2010
  4. pmc Targeted chromosomal duplications and inversions in the human genome using zinc finger nucleases
    Hyung Joo Lee
    National Creative Research Initiatives Center for Genome Engineering, Department of Chemistry, Seoul National University, 599 Gwanak Ro, Seoul, South Korea
    Genome Res 22:539-48. 2012
  5. ncbi Tcl1 expression in chronic lymphocytic leukemia is regulated by miR-29 and miR-181
    Yuri Pekarsky
    Comprehensive Cancer Center, Human Cancer Genetics Program and Department of Molecular Virology, Immunology, and Medical Genetics, OSU School of Medicine, Ohio State University, Columbus, Ohio 43210, USA
    Cancer Res 66:11590-3. 2006
  6. pmc Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
    Carolien G F de Kovel
    Section Complex Genetics, Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    Brain 133:23-32. 2010
  7. pmc Association of survival and disease progression with chromosomal instability: a genomic exploration of colorectal cancer
    Michal Sheffer
    Department of Physics of Complex Systems, Weizmann Institute of Science, Rehovot 76100, Israel
    Proc Natl Acad Sci U S A 106:7131-6. 2009
  8. pmc Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster
    Trilochan Sahoo
    Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nat Genet 40:719-21. 2008
  9. pmc Duplication hotspots, rare genomic disorders, and common disease
    Heather C Mefford
    Department of Pediatrics, University of Washington, Seattle, WA 98195, United States
    Curr Opin Genet Dev 19:196-204. 2009
  10. pmc Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements
    Beverly S Emanuel
    Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, PA 19104 4318, USA
    Dev Disabil Res Rev 14:11-8. 2008

Research Grants

  1. A Drosophila Model for Williams Syndrome Cognitive Processing
    Ralph J Greenspan; Fiscal Year: 2010
  2. Role of the X-chromosome in Pulmonary Arterial Hypertension
    Micheala A Aldred; Fiscal Year: 2012
  3. Role of Y chromosomal genes in male fertility
    Alexander I Agoulnik; Fiscal Year: 2010
  4. ISOLATING THE GENE FOR CHOROIDEREMIA
    Robert Nussbaum; Fiscal Year: 1993
  5. Mouse radiation and chemical induced deletion mutagensis
    Wei Wen Cai; Fiscal Year: 2005
  6. Neuroanatomy and Cognition in Velocardiofacial Syndrome
    Wendy Kates; Fiscal Year: 2005
  7. Identification of Dosage Sensitive Genes on 18q
    Jannine Cody; Fiscal Year: 2007
  8. The World Congress on Chromosome Abnormalities
    Jannine Cody; Fiscal Year: 2004
  9. Immune Complex Stimulation of TNFalpha
    Kathleen Sullivan; Fiscal Year: 2007
  10. TNF Alpha In Inflammation
    Kathleen Sullivan; Fiscal Year: 2008

Detail Information

Publications284 found, 100 shown here

  1. pmc Targeted chromosomal deletions in human cells using zinc finger nucleases
    Hyung Joo Lee
    Department of Chemistry, Seoul National University, Seoul, South Korea
    Genome Res 20:81-9. 2010
    ..Thus, ZFN-induced genomic deletions should be broadly useful as a novel method in biomedical research, biotechnology, and gene therapy...
  2. ncbi Genomic aberrations and survival in chronic lymphocytic leukemia
    H Dohner
    Department of Internal Medicine III University of Ulm, Germany
    N Engl J Med 343:1910-6. 2000
    ..We used this method to identify chromosomal abnormalities in patients with chronic lymphocytic leukemia and assessed their prognostic implications...
  3. pmc A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
    Santhosh Girirajan
    Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA
    Nat Genet 42:203-9. 2010
    ..Analysis of other microdeletions with variable expressivity indicates that this two-hit model might be more generally applicable to neuropsychiatric disease...
  4. pmc Targeted chromosomal duplications and inversions in the human genome using zinc finger nucleases
    Hyung Joo Lee
    National Creative Research Initiatives Center for Genome Engineering, Department of Chemistry, Seoul National University, 599 Gwanak Ro, Seoul, South Korea
    Genome Res 22:539-48. 2012
    ..In addition, our method raises the possibility of correcting genetic defects caused by chromosomal rearrangements and holds new promise in gene and cell therapy...
  5. ncbi Tcl1 expression in chronic lymphocytic leukemia is regulated by miR-29 and miR-181
    Yuri Pekarsky
    Comprehensive Cancer Center, Human Cancer Genetics Program and Department of Molecular Virology, Immunology, and Medical Genetics, OSU School of Medicine, Ohio State University, Columbus, Ohio 43210, USA
    Cancer Res 66:11590-3. 2006
    ..Our results suggest that Tcl1 expression in CLL is, at least in part, regulated by miR-29 and miR-181 and that these microRNAs may be candidates for therapeutic agents in CLLs overexpressing Tcl1...
  6. pmc Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
    Carolien G F de Kovel
    Section Complex Genetics, Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    Brain 133:23-32. 2010
    ..2 and 16p13.11 in epileptogenesis and strengthen the evidence that recurrent microdeletions at 15q11.2, 15q13.3 and 16p13.11 confer a pleiotropic susceptibility effect to a broad range of neuropsychiatric disorders...
  7. pmc Association of survival and disease progression with chromosomal instability: a genomic exploration of colorectal cancer
    Michal Sheffer
    Department of Physics of Complex Systems, Weizmann Institute of Science, Rehovot 76100, Israel
    Proc Natl Acad Sci U S A 106:7131-6. 2009
    ..Annotation analysis reveals that the oxidative phosphorylation pathway shows a strong tendency for decreased expression in the samples characterized by poor prognosis...
  8. pmc Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster
    Trilochan Sahoo
    Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nat Genet 40:719-21. 2008
    ....
  9. pmc Duplication hotspots, rare genomic disorders, and common disease
    Heather C Mefford
    Department of Pediatrics, University of Washington, Seattle, WA 98195, United States
    Curr Opin Genet Dev 19:196-204. 2009
    ..The genomic hotspot model may provide a powerful approach for understanding the role of rare variants in common disease...
  10. pmc Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements
    Beverly S Emanuel
    Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, PA 19104 4318, USA
    Dev Disabil Res Rev 14:11-8. 2008
    ....
  11. ncbi Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
    Donna M McDonald-McGinn
    The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Medicine (Baltimore) 90:1-18. 2011
    ..Each child's needs must be tailored to his or her specific medical problems, and as the child transitions to adulthood, additional issues will arise. A holistic approach, addressing medical and behavioral needs, can be very helpful...
  12. ncbi Identification of miR-145 and miR-146a as mediators of the 5q- syndrome phenotype
    Daniel T Starczynowski
    British Columbia Cancer Agency Research Centre, Vancouver, British Columbia, Canada
    Nat Med 16:49-58. 2010
    ..Thus, inappropriate activation of innate immune signals in HSPCs phenocopies several clinical features of 5q- syndrome...
  13. ncbi Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications
    Douglas F Levinson
    Department of Psychiatry and Behavioral Sciences, Stanford University, Palo Alto, CA 94304 5797, USA
    Am J Psychiatry 168:302-16. 2011
    ....
  14. ncbi A t(1;19)(q10;p10) mediates the combined deletions of 1p and 19q and predicts a better prognosis of patients with oligodendroglioma
    Robert B Jenkins
    Mayo Clinic, Rochester, Minnesota 55905, USA
    Cancer Res 66:9852-61. 2006
    ..Like combined 1p/19q deletion, the 1;19 translocation is associated with superior OS and progression-free survival in low-grade glioma patients...
  15. ncbi Molecular mapping of chromosome 2 deletions in murine radiation-induced AML localizes a putative tumor suppressor gene to a 1.0 cM region homologous to human chromosome segment 11p11-12
    A Silver
    Radiation Effects Department, National Radiological Protection Board, Chilton, Oxfordshire, England
    Genes Chromosomes Cancer 24:95-104. 1999
    ..YAC contig construction, together with data suggesting that the critical gene flanks Sfpi1, represents significant progress toward identifying an AML tumor suppressor gene...
  16. pmc A new highly penetrant form of obesity due to deletions on chromosome 16p11.2
    R G Walters
    Section of Genomic Medicine, Imperial College London, London W12 0NN, UK
    Nature 463:671-5. 2010
    ..3). The most productive approach may therefore be to combine the 'power of the extreme' in small, well-phenotyped cohorts, with targeted follow-up in case-control and population cohorts...
  17. ncbi TP53 mutations in low-risk myelodysplastic syndromes with del(5q) predict disease progression
    Martin Jadersten
    Center for Experimental Hematology M54, Karolinska Institutet, Karolinska University Hospital Huddinge, SE 141 86 Stockholm, Sweden
    J Clin Oncol 29:1971-9. 2011
    ..To determine the frequency of TP53 mutations and the level of p53 protein expression by immunohistochemistry (IHC) in low-risk myelodysplastic syndromes (MDS) with del(5q) and to assess their impact on disease progression...
  18. ncbi TP53 mutations in myelodysplastic syndrome are strongly correlated with aberrations of chromosome 5, and correlate with adverse prognosis
    Austin G Kulasekararaj
    Department of Haematological Medicine, King s College London, School of Medicine, London, UK
    Br J Haematol 160:660-72. 2013
    ..The relatively common occurrence of these mutations in two different prognostic spectrums of MDS, i.e. isolated 5q- and CK with -5/5q-, possibly implies two different mechanistic roles for TP53 protein...
  19. pmc Polysomy for chromosomes 1 and 19 predicts earlier recurrence in anaplastic oligodendrogliomas with concurrent 1p/19q loss
    Matija Snuderl
    Pathology Service, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114 2698, USA
    Clin Cancer Res 15:6430-7. 2009
    ..The purpose of this study was to evaluate the prognostic significance of polysomy of chromosomes 1 and 19 in the setting of 1p/19q codeletion...
  20. ncbi Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures
    Gaelle Thierry
    CHU Nantes, Service de Genetique Medicale, Nantes, France
    Am J Med Genet A 158:1633-40. 2012
    ..These results suggest that HNRNPU, FAM36A, and NCRNA00201 are not major genes for microcephaly and corpus callosum abnormalities but are good candidates for ID and seizures...
  21. ncbi Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems
    Trilochan Sahoo
    Signature Genomic Laboratories, 2820 N Astor St, Spokane, WA 99207, USA
    Genet Med 13:868-80. 2011
    ....
  22. pmc Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes
    M A Aldred
    J Med Genet 41:433-9. 2004
  23. pmc Cytogenetic features in myelodysplastic syndromes
    Detlef Haase
    Department of Hematology and Oncology, Georg August University, Robert Koch Str 40, 37075, Gottingen, Germany
    Ann Hematol 87:515-26. 2008
    ..This article thus focuses on the clinical and prognostic relevance, the molecular background, and therapeutic perspectives in these three cytogenetic subgroups...
  24. ncbi Caveolin 1 expression independently predicts shorter survival in oligodendrogliomas
    Rebecca Senetta
    Department of Biomedical Sciences, University of Turin, Italy
    J Neuropathol Exp Neurol 68:425-31. 2009
    ..015). These data are the first evidence that cav-1 immunohistochemistry is an independent prognostic marker in tumors with an oligodendroglial component regardless of the 1p/19q status...
  25. pmc Topography, clinical, and genomic correlates of 5q myeloid malignancies revisited
    Andres Jerez
    Cleveland Clinic, Cleveland, OH, USA
    J Clin Oncol 30:1343-9. 2012
    ....
  26. ncbi Survival, prognostic factors and rates of leukemic transformation in 381 untreated patients with MDS and del(5q): a multicenter study
    U Germing
    Department of Hematology, Oncology and Clinical Immunology, Heinrich Heine University Dusseldorf, Dusseldorf, Germany
    Leukemia 26:1286-92. 2012
    ..In conclusion, patients with MDS and del(5q) are facing a considerable risk of AML transformation. More detailed cytogenetic and molecular studies may help to identify the patients at risk of progression...
  27. pmc Velo-cardio-facial syndrome: 30 Years of study
    Robert J Shprintzen
    Department of Otolaryngology and Communication Science, Velo Cardio Facial Syndrome International Center, State University of New York, Upstate Medical University, Syracuse, NY 13210, USA
    Dev Disabil Res Rev 14:3-10. 2008
    ..Therefore, interest in understanding the nature of psychiatric illness in the syndrome remains strong...
  28. ncbi Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation
    Agatino Battaglia
    Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, Via dei Giacinti 2, 56018 Calambrone, Pisa, Italy
    Pediatrics 121:404-10. 2008
    ..Our aim was to delineate the natural history of deletion 1p36 and develop complete and accurate information with which to answer families' questions in the clinical setting...
  29. ncbi Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases
    Manuela Morleo
    Telethon Institute of Genetics and Medicine TIGEM, Via Pietro Castellino 111, 80131 Naples, Italy
    Am J Med Genet A 137:190-8. 2005
    ..These patients made it possible to undertake mutation screening of candidate genes and may prove critical for the identification of the gene responsible for this challenging and intriguing genetic disease...
  30. ncbi Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)
    N M C Maas
    Center for Human Genetics, University Hospital, Catholic University of Leuven, Leuven, Belgium
    J Med Genet 45:71-80. 2008
    ..Large variation is observed in phenotypic expression of these features. In order to compare the phenotype with the genotype, we localised the breakpoints of the 4 pter aberrations using a chromosome 4 specific tiling BAC/PAC array...
  31. ncbi 11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity
    Marwan Shinawi
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 155:1272-80. 2011
    ..Our data show that ADHD, autism, developmental delay, and obesity are highly associated with deletion involving 11p14.1 and provide additional support for a significant role of BDNF in obesity and neurobehavioral problems...
  32. pmc Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH
    Joris Andrieux
    Laboratoire de Genetique Medicale, Hopital Jeanne de Flandre, CHRU, Lille, France
    Am J Med Genet A 149:2813-9. 2009
    ..Neither hypospadias nor micropenis were present in Patient 3 bearing the smallest deletion, therefore we could define 500 kb 15q24.1 region linked to these anomalies...
  33. pmc Copy number variants in patients with severe oligozoospermia and Sertoli-cell-only syndrome
    Frank Tüttelmann
    Institute of Human Genetics, University of Munster, Munster, Germany
    PLoS ONE 6:e19426. 2011
    ..The recurring, patient-specific and private, sex-chromosomal CNVs as well as those associated with SCOS are candidates for further, larger case-control and re-sequencing studies...
  34. ncbi Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2
    Paula Sandrin-Garcia
    Molecular Immunogenetics Group, Department of Genetics, Faculty of Medicine of Ribeirao Preto, University of Sao Paulo USP, Ribeirao Preto, SP, Brazil
    Mol Cell Biochem 303:9-17. 2007
    ..Our findings demonstrated that independently of their size, any deletion occurring in the VCFS critical region is enough to confer the patient phenotype...
  35. ncbi Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients
    Eleni Katzaki
    Medical Genetics, University of Siena, Siena, Italy
    Am J Med Genet A 152:1711-7. 2010
    ....
  36. ncbi Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants
    Ayman W El-Hattab
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genet Med 12:573-86. 2010
    ..To investigate the potential influence of additional copy number variants in patients with 15q24 rearrangements and the possible underlying mechanisms for these rearrangements...
  37. ncbi Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis
    Lisenka E L M Vissers
    Department of Human Genetics 855, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, PO Box 9101, Nijmegen 6500 HB, The Netherlands
    J Med Genet 47:289-97. 2010
    ..In addition, a future prospect is provided for the detection of disease causing mutations and structural variants by next generation sequencing technologies...
  38. pmc Associations of Y-chromosome subdeletion gr/gr with the prevalence of Y-chromosome haplogroups in infertile patients
    Mohammad Shahid
    College of Dentistry, Alkharj University, Alkharj, Kingdom of Saudi Arabia, India
    Eur J Hum Genet 19:23-9. 2011
    ..Our results provide evidence of association between the occurrence of subdeletions and male infertility as well as the severity of the spermatogenic failure...
  39. ncbi FISH-based detection of 1p 19q codeletion in oligodendroglial tumors: procedures and protocols for neuropathological practice - a publication under the auspices of the Research Committee of the European Confederation of Neuropathological Societies (Euro-C
    A Woehrer
    Institute of Neurology, CCC CNS Medical University of Vienna, Waehringer Guertel 18 20, 1097 Vienna, Austria
    Clin Neuropathol 30:47-55. 2011
    ..Thereby, we aim to facilitate the implementation of FISH-based 1p 19q testing for clinical purposes in standard neuropathology laboratories without special focus on brain tumor research...
  40. ncbi Penetrance for copy number variants associated with schizophrenia
    Evangelos Vassos
    Institute of Psychiatry, MRC SGDP Centre, King s College London, London, UK
    Hum Mol Genet 19:3477-81. 2010
    ..Thus, although CNVs are still far from being clinically useful or relevant to genetic counselling for specific disorders, their detection may hold an important clinical value in predicting negative developmental outcomes...
  41. pmc Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
    Marwan Shinawi
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, Texas 77030, USA
    J Med Genet 47:332-41. 2010
    ..Deletion and the reciprocal duplication in 16p11.2 were recently associated with autism and developmental delay...
  42. ncbi Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation
    Inessa Grinberg
    Department of Human Genetics, The University of Chicago, Chicago, Illinois 60637, USA
    Nat Genet 36:1053-5. 2004
    ..Mice with a heterozygous deletion of these two linked genes have a phenotype that closely resembles DWM, providing a mouse model for this malformation...
  43. ncbi Genomic profiles associated with early micrometastasis in lung cancer: relevance of 4q deletion
    Michaela Wrage
    Institute of Tumor Biology and Department of General, Visceral and Thoracic Surgery, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    Clin Cancer Res 15:1566-74. 2009
    ..It is still unclear whether the shedding of DTC from the primary tumor is a random process or a selective release driven by a specific genomic pattern...
  44. ncbi Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances
    Marianne Doornbos
    Beatrix Children s Hospital, University Medical Centre Groningen, University of Groningen, The Netherlands
    Eur J Med Genet 52:108-15. 2009
    ..Our results suggest a pathogenic nature for the BP1-BP2 microdeletion and, although there obviously is an incomplete penetrance, they support the existence of a novel microdeletion syndrome in 15q11.2...
  45. pmc Clinical features of 78 adults with 22q11 Deletion Syndrome
    Anne S Bassett
    Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    Am J Med Genet A 138:307-13. 2005
    ..Many treatable conditions may be anticipated and features may accumulate over time. The results have implications for clinical assessment and management, genetic counseling and research into pathophysiological mechanisms...
  46. ncbi Advances in the 5q- syndrome
    Jacqueline Boultwood
    Leukaemia and Lymphoma Research Molecular Haematology Unit, Nuffield Department of Clinical Laboratory Sciences, John Radcliffe Hospital, Headington, Oxford, United Kingdom
    Blood 116:5803-11. 2010
    ..Lenalidomide has become an established therapy for the 5q- syndrome, although its precise mode of action remains uncertain...
  47. ncbi A randomized phase 3 study of lenalidomide versus placebo in RBC transfusion-dependent patients with Low-/Intermediate-1-risk myelodysplastic syndromes with del5q
    Pierre Fenaux
    Hopital Avicenne, Assistance Publique Hopitaux de Paris, Universite Paris XIII, Bobigny, France
    Blood 118:3765-76. 2011
    ..Lenalidomide is beneficial and has an acceptable safety profile in transfusion-dependent patients with Low-/Intermediate-1-risk del5q myelodysplastic syndrome. This trial was registered at www.clinicaltrials.gov as #NCT00179621...
  48. ncbi Impact of adjunct cytogenetic abnormalities for prognostic stratification in patients with myelodysplastic syndrome and deletion 5q
    M Mallo
    Spanish Haematological Cytogenetics Working Group, Faculty of Life Sciences, Department of Cell Biology, Physiology, and Immunology, Autonomous University of Barcelona, Bellaterra, Spain
    Leukemia 25:110-20. 2011
    ....
  49. pmc 3' deletions cause aniridia by preventing PAX6 gene expression
    J D Lauderdale
    Departments of Internal Medicine and Human Genetics, University of Michigan, 4510 MSRB I, Box 0650, 1150 West Medical Center Drive, Ann Arbor, MI 48109 0650, USA
    Proc Natl Acad Sci U S A 97:13755-9. 2000
    ..Our findings suggest that remote 3' regulatory elements are required for initiation of PAX6 expression...
  50. ncbi Persistent malignant stem cells in del(5q) myelodysplasia in remission
    Ramin Tehranchi
    Hematopoietic Stem Cell Laboratory, Lund Stem Cell Center, Lund University, Lund, Sweden
    N Engl J Med 363:1025-37. 2010
    ..The in vivo clinical significance of malignant stem cells remains unclear...
  51. pmc Molecular genetic aspects of oligodendrogliomas including analysis by comparative genomic hybridization
    S H Bigner
    Departments of Pathology, Duke University Medical Center, Durham, North Carolina, USA
    Am J Pathol 155:375-86. 1999
    ....
  52. pmc Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism
    Guy Horev
    Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA
    Proc Natl Acad Sci U S A 108:17076-81. 2011
    ..These findings indicate that 16p11.2 CNVs cause brain and behavioral anomalies, providing insight into human neurodevelopmental disorders...
  53. ncbi TP53 mutation and survival in chronic lymphocytic leukemia
    Thorsten Zenz
    University of Ulm, Ulm, Germany
    J Clin Oncol 28:4473-9. 2010
    ..The precise prognostic impact of TP53 mutation and its incorporation into treatment algorithms in chronic lymphocytic leukemia (CLL) is unclear. We set out to define the impact of TP53 mutations in CLL...
  54. pmc A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk
    Francesca Antonacci
    Department of Genome Sciences, University of Washington, Seattle, Washington, USA
    Nat Genet 42:745-50. 2010
    ..Notably, we show that the S2 configuration harbors directly oriented duplications, specifically predisposing this chromosome to disease-associated rearrangement...
  55. ncbi Comprehensive molecular cytogenetic characterization of cervical cancer cell lines
    Charles P Harris
    Laboratory of Molecular Cytogenetics, Texas Children s Cancer Center, Baylor College of Medicine, Houston, Texas 77030, USA
    Genes Chromosomes Cancer 36:233-41. 2003
    ..This comprehensive cytogenetic characterization of eight CC cell lines enhances their utility in experimental studies aimed at gene discovery and functional analysis...
  56. pmc 22q13.3 deletion syndrome: clinical and molecular analysis using array CGH
    S U Dhar
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 152:573-81. 2010
    ..3 deletion syndrome, and we aim to accurately characterize these patients both clinically and at the molecular level, to pave the way for further genotype-phenotype correlations. (c) 2010 Wiley-Liss, Inc...
  57. ncbi GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region
    Colleen A Morris
    Department of Pediatrics, Division of Genetics, University of Nevada School of Medicine, Las Vegas, Nevada 89102, USA
    Am J Med Genet A 123:45-59. 2003
    ..Comparison of these five families with reports of other individuals with partial deletions of the WS region most strongly implicates GTF2I in the mental retardation of WS...
  58. ncbi Partial AZFc deletions and duplications: clinical correlates in the Italian population
    Claudia Giachini
    Andrology Unit, Department of Clinical Physiopathology, University of Florence, Viale Pieraccini 6, 50139, Firenze, Italy
    Hum Genet 124:399-410. 2008
    ....
  59. pmc A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes
    Marwan Shinawi
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Nat Genet 41:1269-71. 2009
    ..3. Although this deletion also affects OTUD7A, accumulated data suggest that haploinsufficiency of CHRNA7 is causative for the majority of neurodevelopmental phenotypes in the 15q13.3 microdeletion syndrome...
  60. ncbi Genome-wide analysis identifies 16q deletion associated with survival, molecular subtypes, mRNA expression, and germline haplotypes in breast cancer patients
    Silje H Nordgard
    Department of Genetics, Institute for Cancer Research, Norwegian Radium Hospital, Rikshospitalet University Hospital, Oslo, Norway
    Genes Chromosomes Cancer 47:680-96. 2008
    ..The genes where these SNPs reside encode proteins involved in the extracellular matrix (CHST3 and SPOCK2), in regulation of the cell cycle (JMY, PTPRN2, and Cwf19L2) and chromosome stability (KPNB1)...
  61. pmc Anaplastic oligodendrogliomas with 1p19q codeletion have a proneural gene expression profile
    François Ducray
    Unite Inserm U711, Universite Paris VI, 47 83 boulevard de l Hopital, 75013 Paris, France
    Mol Cancer 7:41. 2008
    ..We performed a microarray gene expression study of four high grade gliomas with 1p19q codeletion and nine with EGFR amplification, identified by CGH-array...
  62. ncbi Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome
    Nathalie Van der Aa
    Department of Medical Genetics, University of Antwerp and Antwerp University Hospital, Universiteitsplein 1, 2610 Antwerp, Belgium
    Eur J Med Genet 52:94-100. 2009
    ..Our patient collection demonstrates that the 7q11.23 microduplication not only causes language delay, but is also associated with congenital anomalies and a recognizable face...
  63. ncbi Strong evidence that GNB1L is associated with schizophrenia
    Nigel M Williams
    Department of Psychological Medicine, Wales School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK
    Hum Mol Genet 17:555-66. 2008
    ..However, other explanations are possible, and further analyses will be required to clarify the correct functional mechanism...
  64. pmc High-resolution array copy number analyses for detection of deletion, gain, amplification and copy-neutral LOH in primary neuroblastoma tumors: four cases of homozygous deletions of the CDKN2A gene
    Helena Caren
    Department of Clinical Genetics, Institute of Biomedicine, Goteborg University, Sahlgrenska University Hospital, SE 41345 Goteborg, Sweden
    BMC Genomics 9:353. 2008
    ..We have used array-based copy number analysis using oligonucleotide single nucleotide polymorphisms (SNP) arrays to analyze the chromosomal structure of a large number of neuroblastoma tumors of different clinical and biological subsets...
  65. ncbi Splenic marginal zone lymphoma: characterization of 7q deletion and its value in diagnosis
    A James Watkins
    Division of Molecular Histopathology, Department of Pathology, University of Cambridge, UK
    J Pathol 220:461-74. 2010
    ..In conclusion, 7q32 deletion is a characteristic feature of SMZL, albeit seen in isolated cases of splenic B-cell lymphoma/leukaemia unclassifiable, and its detection may help the differential diagnosis of splenic B-cell lymphomas...
  66. ncbi Mouse homologues of the human AZF candidate gene RBM are expressed in spermatogonia and spermatids, and map to a Y chromosome deletion interval associated with a high incidence of sperm abnormalities
    S K Mahadevaiah
    Laboratory of Developmental Genetics, National Institute for Medical Research, The Ridgeway, Mill Hill, London NW7 1AA, UK
    Hum Mol Genet 7:715-27. 1998
    ..In man, deletion of the functional copies of RBM is associated with meiotic arrest rather than sperm anomalies; however, the different effects of deletion are consistent with the differences in expression between the two species...
  67. pmc MGMT promoter methylation is prognostic but not predictive for outcome to adjuvant PCV chemotherapy in anaplastic oligodendroglial tumors: a report from EORTC Brain Tumor Group Study 26951
    Martin J van den Bent
    Department of Neuro Oncology and Pathology, Daniel den Hoed Cancer Center and Erasmus University Medical Center, Rotterdam, The Netherlands
    J Clin Oncol 27:5881-6. 2009
    ..It is unknown if MGMT promoter methylation is also predictive to outcome to RT followed by adjuvant procarbazine, lomustine, and vincristine (PCV) chemotherapy in patients with anaplastic oligodendroglial tumors (AOT)...
  68. pmc Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
    Heather C Mefford
    University of Washington School of Medicine, Seattle 98195, USA
    N Engl J Med 359:1685-99. 2008
    ..Advances in technologies to detect these changes allow for the routine identification of submicroscopic imbalances in large numbers of patients...
  69. pmc Large, rare chromosomal deletions associated with severe early-onset obesity
    Elena G Bochukova
    University of Cambridge Metabolic Research Laboratories, Institute of Metabolic Science, Addenbrooke s Hospital, Cambridge CB2 0QQ, UK
    Nature 463:666-70. 2010
    ..Deletion carriers exhibited hyperphagia and severe insulin resistance disproportionate for the degree of obesity. We show that copy number variation contributes significantly to the genetic architecture of human obesity...
  70. pmc 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
    Ingo Helbig
    Department of Neuropediatrics, University Medical Center Schleswig Holstein Kiel Campus, Schwanenweg 20, 24105 Kiel, Germany
    Nat Genet 41:160-2. 2009
    ..3 microdeletions, such as intellectual disability, autism or schizophrenia. Our results indicate that 15q13.3 microdeletions constitute the most prevalent risk factor for common epilepsies identified to date...
  71. ncbi The Y chromosome gr/gr subdeletion is associated with male infertility
    M Lynch
    Prince Henry s Institute of Medical Research, Monash University, Monash Medical Centre, Clayton, Victoria, Australia
    Mol Hum Reprod 11:507-12. 2005
    ..The data suggest that testing for gr/gr deletions should be considered in the routine genetic assessment of men with idiopathic infertility...
  72. pmc Defining the social phenotype in Williams syndrome: a model for linking gene, the brain, and behavior
    Anna Järvinen-Pasley
    Salk Institute for Biological Studies, La Jolla, CA 92037 1099, USA
    Dev Psychopathol 20:1-35. 2008
    ....
  73. ncbi Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumour
    Angela Sparago
    Dipartimento di Scienze Ambientali, Seconda Universita di Napoli, Via Vivaldi 43, 81100 Caserta, Italy
    Hum Mol Genet 16:254-64. 2007
    ..Finally, the IC1 microdeletions are associated with a high incidence of Wilms' tumour, making their molecular diagnosis particularly important for genetic counselling and tumour surveillance at follow-up...
  74. ncbi Tumor spectrum analysis in p53-mutant mice
    T Jacks
    Center for Cancer Research, Massachusetts Institute of Technology, Cambridge 02139
    Curr Biol 4:1-7. 1994
    ..The construction of mouse strains carrying germline mutations of p53 facilitates analysis of the function of p53 in normal cells and tumorigenesis...
  75. ncbi Detection of sperm in men with Y chromosome microdeletions of the AZFa, AZFb and AZFc regions
    C V Hopps
    Center for Male Reproductive Medicine and Microsurgery, Cornell Institute for Reproductive Medicine and Department of Urology, New York Weill Cornell Medical Center, 525 East 68th Street, Starr 900, New York, NY 10021, USA
    Hum Reprod 18:1660-5. 2003
    ..Y chromosome microdeletions are associated with severe male factor infertility. In this study, the success rate of testicular sperm retrieval was determined for men with deletions of AZF regions a, b or c...
  76. ncbi Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome
    Anurag Mitra
    Gamete Antigen Laboratory, National Institute of Immunology, Aruna Asaf Ali Marg, New Delhi 110 067, India
    Asian J Androl 8:81-8. 2006
    ..To study the occurrence of Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome (KFS)...
  77. ncbi Monoallelic and biallelic deletions of 13q14.3 in chronic lymphocytic leukemia: FISH vs miRNA RT-qPCR detection
    Matthew T Smonskey
    Molecular Diagnostics Laboratory, Roswell Park Cancer Institute, Buffalo, NY 14263, USA
    Am J Clin Pathol 137:641-6. 2012
    ..Analyzed retrospectively, miR-15a levels differ among the del(13q) groups. However, only del(13qx2) miR-15a levels are reduced enough to determine the allelic status of an individual sample prospectively by real-time quantitative PCR...
  78. pmc A high number of losses in 13q14 chromosome band is associated with a worse outcome and biological differences in patients with B-cell chronic lymphoid leukemia
    Jose Angel Hernandez
    Servicios de Hematologia, Hospital Infanta Leonor, Madrid, Spain
    Haematologica 94:364-71. 2009
    ..We analyzed the clinico-biological characteristics and outcome of patients with B-cell chronic lymphoid leukemia with loss of 13q as the sole cytogenetic aberration...
  79. pmc Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome
    T Kleefstra
    Department of Human Genetics, University Medical Centre St Radboud, Nijmegen, The Netherlands
    J Med Genet 42:299-306. 2005
    ..The minimum critical region responsible for this 9q subtelomeric deletion syndrome (9q-) is approximately 1.2 Mb and encompasses at least 14 genes...
  80. ncbi FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion
    Ginevra Zanni
    Unit of Molecular Medicine, Departement of Neurosciences, Bambino Gesu Pediatric Hospital, 4 Piazza S Onofrio, 00165 Rome, Italy
    Neurogenetics 12:241-5. 2011
    ..This is the first report of a human cerebellar malformation associated with transcriptional downregulation of the FGF17 gene...
  81. ncbi Predictive factors for overall and progression-free survival, and dissemination in oligodendroglial tumors
    Masayuki Kanamori
    Department of Neurosurgery, Tohoku University Graduate School of Medicine, Seiryo machi, Aoba ku, Sendai, Miyagi, Japan
    J Neurooncol 93:219-28. 2009
    ..In conclusion, post-progression survival shows significant differences between patients with local and disseminated recurrence. Ki-67 labeling index and nestin expression pattern are useful markers to predict dissemination...
  82. ncbi Prevalence of 9p21 deletions in UK melanoma families
    Sushila H Mistry
    Genetic Epidemiology Division, Cancer Research UK Clinical Centre in Leeds, St James s University Hospital, Beckett Street, Leeds LS9 7TF, UK
    Genes Chromosomes Cancer 44:292-300. 2005
    ..Deletions at 9p21 are rare and explain only a small proportion of melanoma susceptibility. This study is the first to comprehensively exclude deletions in melanoma-prone families with no previously identified CDKN2A mutations...
  83. ncbi Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome
    S H L Kang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Clinical Care Center, 6701 Fannin Street, Houston, TX 77030, USA
    Clin Genet 72:329-38. 2007
    ....
  84. ncbi Treatment of myelodysplastic syndromes with 5q deletion before the lenalidomide era; the GFM experience with EPO and thalidomide
    C Kelaidi
    GFM, Service d Hematologie Clinique, Hôpital Avicenne AP HP Université Paris 13, 125 rue de Stalingrad, 93009 Bobigny, France
    Leuk Res 32:1049-53. 2008
    ..Our results confirm that response rates to EPO or DAR and thalidomide are clearly inferior to those obtained with lenalidomide...
  85. ncbi Molecular subtypes of anaplastic oligodendroglioma: implications for patient management at diagnosis
    Y Ino
    Molecular Neuro-Oncology Laboratory, Department of Pathology and Neurosurgical Service, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA
    Clin Cancer Res 7:839-45. 2001
    ..CONCLUSIONS: These data raise the possibility, for the first time, that therapeutic decisions at the time of diagnosis might be tailored to particular genetic subtypes of anaplastic oligodendroglioma...
  86. ncbi Screening for partial AZFa microdeletions in the Y chromosome of infertile men: is it of clinical relevance?
    Sandra E Kleiman
    Institute for the Study of Fertility, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    Fertil Steril 98:43-7. 2012
    ..To evaluate the frequency of complete and partial AZFa Y-chromosome microdeletions among infertile Israeli men. To review the published frequencies and histologic findings of AZFa deletions...
  87. ncbi Transmissible microdeletion of the Y-chromosome encompassing two DAZ copies, four RBMY1 copies, and both PRY copies
    Ingrid Plotton
    Service d Endocrinologie Moléculaire et Maladies Rares, Groupement Hospitalier Est, CHU de Lyon, Lyon, France
    Fertil Steril 94:2770.e11-6. 2010
    ..To study a transmissible partial AZFb and -c microdeletion...
  88. ncbi Large scale deletions in the Saccharomyces cerevisiae genome create strains with altered regulation of carbon metabolism
    Kiriko Murakami
    Department of Microbiology and Immunology, School of Medicine, Keio University, Shinjuku, Tokyo, 160 8582, Japan
    Appl Microbiol Biotechnol 75:589-97. 2007
    ..Further systematic deletion could lead to the formation of a eukaryotic cell with a minimum set of genes exhibiting appropriately altered regulation for enhanced metabolite production...
  89. ncbi Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions
    Jill A Rosenfeld
    Signature Genomic Laboratories, Spokane, Washington, USA
    Am J Med Genet A 152:1951-9. 2010
    ..Characterization of small deletions is important for narrowing critical intervals and for the identification of causative or candidate genes for features of monosomy 1p36 syndrome...
  90. ncbi Dandy-Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion: Report of a new patient
    Jun Tohyama
    Department of Pediatrics, Nishi Niigata Chuo National Hospital, Japan
    Am J Med Genet A 155:130-3. 2011
    ..1 might contribute to the dysmorphic facial appearance. A milder phenotype as the Dandy-Walker malformation in our patient supports the idea that modifying loci/genes can influence the development of cerebellar malformation...
  91. ncbi Deletions of 17p are associated with transition from early to advanced colorectal cancer
    Mauro Risio
    Unit of Pathology, Institute for Cancer Research and Treatment, Strada Provinciale 142, Km 3 95, 10060, Candiolo, Torino, Italy
    Cancer Genet Cytogenet 147:44-9. 2003
    ..01). These findings indicate that loss of genes from the 17p13.3 chromosome region may play an important role in sustaining the transition from early to advanced cancer in colorectal tumor progression...
  92. pmc Aberrations in pseudoautosomal regions (PARs) found in infertile men with Y-chromosome microdeletions
    Carolina J Jorgez
    Scott Department of Urology, Baylor College of Medicine, Houston, Texas 77030, USA
    J Clin Endocrinol Metab 96:E674-9. 2011
    ..The pseudoautosomal regions (PARs) of the Y-chromosome undergo meiotic recombination with the X-chromosome. PAR mutations are associated with infertility and mental and stature disorders...
  93. ncbi Neuroblastoma tumors with favorable and unfavorable outcomes: Significant differences in mRNA expression of genes mapped at 1p36.2
    Susanne Fransson
    Department of Clinical Genetics, University of Gothenburg, Sahlgrenska University Hospital East, S 416 85 Gothenburg, Sweden
    Genes Chromosomes Cancer 46:45-52. 2007
    ..It is also possible that a combination of lowly expressed genes at 1p, rather than one single classical tumor suppressor gene, causes the unfavorable outcome associated with 1p-deletion in neuroblastoma...
  94. pmc Evaluation of potential modifiers of the palatal phenotype in the 22q11.2 deletion syndrome
    Deborah A Driscoll
    Department of Obstetrics and Gynecology, University of Pennsylvania School of Medicine, USA
    Cleft Palate Craniofac J 43:435-41. 2006
    ..To evaluate potential modifiers of the palatal phenotype in individuals with the 22q11.2 deletion syndrome...
  95. pmc A comprehensive analysis of 22q11 gene expression in the developing and adult brain
    T M Maynard
    Neurodevelopmental Disorders Research Center, Silvio O Conte Center for the Neuroscience of Mental Disorders, Department of Cell and Molecular Physiology, School of Medicine, University of North Carolina, Chapel Hill, NC 27599, USA
    Proc Natl Acad Sci U S A 100:14433-8. 2003
    ..Thus, 22q11 deletion may disrupt expression of multiple genes during development and maturation of neurons and circuits compromised by cognitive and psychiatric disorders associated with VCFS...
  96. ncbi Clinical utility of fluorescence in situ hybridization (FISH) in morphologically ambiguous gliomas with hybrid oligodendroglial/astrocytic features
    Christine E Fuller
    Department of Pathology, Washington University School of Medicine, St Louis, Missouri, USA
    J Neuropathol Exp Neurol 62:1118-28. 2003
    ..We conclude that 1) distinct genetic subsets are identifiable by FISH in morphologically ambiguous gliomas, and 2) both histological grading and molecular analysis yield prognostically useful information...
  97. ncbi Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2
    Tanya M Bardakjian
    Division of Genetics, Department of Pediatrics, Albert Einstein Medical Center, Philadelphia, Pennsylvania 19141, USA
    Am J Med Genet A 152:3120-3. 2010
    ..This report contributes to the growing knowledge regarding this microdeletion and suggests that rare copy number changes may be a cause of microphthalmia and other eye anomalies...
  98. pmc Transposon Ac/Ds-induced chromosomal rearrangements at the rice OsRLG5 locus
    Yuan hu Xuan
    Division of Applied Life Science BK21 program, Plant Molecular Biology and Biotechnology Research Center PMBBRC, Gyeongsang National University, Jinju 660 701, Korea
    Nucleic Acids Res 39:e149. 2011
    ..Together, these results demonstrate a greatly enlarged potential of the Ac/Ds system for plant chromosome engineering...
  99. pmc Common genetic changes in leiomyosarcoma and gastrointestinal stromal tumour: implication for ataxia telangiectasia mutated involvement
    Aliya Ul-Hassan
    Royal Hallamshire Hospital, University of Sheffield, UK
    Int J Exp Pathol 90:549-57. 2009
    ....
  100. ncbi Integrated genomic profiling identifies two distinct molecular subtypes with divergent outcome in neuroblastoma with loss of chromosome 11q
    M Fischer
    Department of Paediatric Oncology, University Children s Hospital, and Center for Molecular Medicine Cologne CMMC, Cologne, Germany
    Oncogene 29:865-75. 2010
    ....

Research Grants67

  1. A Drosophila Model for Williams Syndrome Cognitive Processing
    Ralph J Greenspan; Fiscal Year: 2010
    ..Williams syndrome (WS) is a chromosome deletion disorder with interesting behavioral and cognitive phenotypic components, and the loss of genes within the ..
  2. Role of the X-chromosome in Pulmonary Arterial Hypertension
    Micheala A Aldred; Fiscal Year: 2012
    ..and uncultured lung tissue to distinguish these two hypotheses and also identify whether cases with X-chromosome deletion have lost the active or inactive X...
  3. Role of Y chromosomal genes in male fertility
    Alexander I Agoulnik; Fiscal Year: 2010
    ..rescue experiments however become highly complicated as a production of mice with multiple transgenes on Y chromosome deletion background is required...
  4. ISOLATING THE GENE FOR CHOROIDEREMIA
    Robert Nussbaum; Fiscal Year: 1993
    ..The disease locus maps to xq21.2 based on linkage analysis in families and on chromosome deletion and translocation in affected patients...
  5. Mouse radiation and chemical induced deletion mutagensis
    Wei Wen Cai; Fiscal Year: 2005
    ..Several strategies have been developed for generating mice with chromosome deletion. But all these methods are currently applied to recover deletions only around specific loci...
  6. Neuroanatomy and Cognition in Velocardiofacial Syndrome
    Wendy Kates; Fiscal Year: 2005
    ....
  7. Identification of Dosage Sensitive Genes on 18q
    Jannine Cody; Fiscal Year: 2007
    ..Furthermore, it will begin to piece together the genotypic components that combine to generate the full phenotype of a child with an 18q deletion. ..
  8. The World Congress on Chromosome Abnormalities
    Jannine Cody; Fiscal Year: 2004
    ..This application seeks funding for the Scientific Sessions of the World Congress on Chromosome Abnormalities, to be held in June of 2004 in San Antonio, Texas. ..
  9. Immune Complex Stimulation of TNFalpha
    Kathleen Sullivan; Fiscal Year: 2007
    ..In the third aim, we will define the role of chromatin in the regulation of responses to immune complexes. ..
  10. TNF Alpha In Inflammation
    Kathleen Sullivan; Fiscal Year: 2008
    ..Overall, this proposal will define the mechanisms underlying repression of the TNF alpha locus. [unreadable] [unreadable]..
  11. Attention in Children with the 22q11 Deletion Syndrome
    Christina Sobin; Fiscal Year: 2005
    ....
  12. Schizophrenia Predisposition in 22q11 Deletion Syndrome
    Vandana Shashi; Fiscal Year: 2005
    ..abstract_text> ..
  13. Numerical Deficits Across Multiple Genetic Disorders
    Tony Simon; Fiscal Year: 2007
    ..It should be possible to use these results to develop interventions for children with numerical disabilities and improved teaching methods in the numerical domain for typically developing children. ..
  14. GENETIC AND BIOLOGIC STUDIES OF 1P AND 19Q IN GLIOMAS
    Robert Jenkins; Fiscal Year: 2001
    ..abstract_text> ..
  15. Genetic Risk Profiling in Metastatic Prostate Carcinoma
    Adam Kibel; Fiscal Year: 2004
    ..At the conclusion of this study, we will have a panel of markers with the potential to predict, in future prospective studies, which patients are at high risk of eventual death from prostate carcinoma. ..
  16. Cell Cycle Variants and Metastatic Prostate Cancer Risk
    Adam Kibel; Fiscal Year: 2009
    ..At the conclusion of this study, we will have a panel of markers that can be used to predict which patients are at high risk of treatment failure and eventual death from prostate carcinoma. ..
  17. IDENTIFICATION OF A 12P PROSTATE TUMOR SUPPRESSOR GENE
    Adam Kibel; Fiscal Year: 2006
    ..The identification of a novel tumor suppressor would provide a target for better prostate cancer therapy and/or more accurate prognostic information for men newly diagnosed with the disease. ..
  18. Large-Scale Low-Cost Genotyping for the Haplotype Map
    Kelly Frazer; Fiscal Year: 2004
    ..e. 2.25 million SNPs in 270 samples, plus 15 duplicates and 3 blanks) within one year, at the cost and quality specified by the HapMap Project, is well within our capacity. ..
  19. Function of Genes in Williams Syndrome Deletion Region
    Uta Francke; Fiscal Year: 2005
    ....
  20. A role for the CdLS gene NIPBL in HP1 gene silencing
    Ian Krantz; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable] [unreadable]..
  21. Mechanism and Function of Heyl in Neurogenesis
    Ali Jalali; Fiscal Year: 2008
    ..These studies will further our understanding of the underlying biology of neural stem cells and nervous system development. ..
  22. Genetic Determinants of Brain Structure and Disease Risk in Schizophrenia
    Thomas H Wassink; Fiscal Year: 2010
    ....
  23. The Genetic Etiology of Left-Sided Cardiac Defects
    Elizabeth Goldmuntz; Fiscal Year: 2007
    ..In addition, these investigations will lead to future studies that assess the relationship of genotype to clinical outcome, and allow us to improve upon our clinical management accordingly. [unreadable] [unreadable]..
  24. The Genetic Etiology of Conotruncal Cardiac Defects
    Elizabeth Goldmuntz; Fiscal Year: 2007
    ..With this data, the impact of genotype on clinical outcome can be assessed and improved management strategies devised for the future. [unreadable] [unreadable]..
  25. Role of 5-alpha Reductase in Testosterone Actions
    Shalendar Bhasin; Fiscal Year: 2007
    ..abstract_text> ..
  26. Roles of Nemo-like kinase in CaP and its effects on androgen receptor signaling
    Eva Corey; Fiscal Year: 2010
    ..By studying the ability of nemo-like kinase to kill even prostate-cancer cells that are resistant to other treatments, we hope to point the way to new and promising therapeutic approaches for advanced prostate cancer. ..
  27. Fragile X Related Genes Mental Retardation/Development
    David Nelson; Fiscal Year: 2009
    ..Successful completion of these aims will allow the definition of function and dysfunction in Fragile X syndrome and FXTAS. ..
  28. Molecular Analysis of Del(9q) Acute Myeloid Leukemia
    David A Sweetser; Fiscal Year: 2010
    ..The information from this study will hopefully aid in the rational design of effective targeted therapies and may have relevance to the pathogenesis of other cancers. ..
  29. Targeting active adaptors to control endothelial damage
    Sheng Wei; Fiscal Year: 2008
    ..g. design of DAP10 and DAP12 antagonists, for therapeutic intervention to specifically control lymphocyte-mediated tissue damage. [unreadable] [unreadable]..
  30. Admixture Mapping of Sarcoidosis Genes in African American
    Benjamin Rybicki; Fiscal Year: 2007
    ..Our proposed study has the potential to uncover genes of modest effect not easily detectable by linkage and may in some instances actually be more statistically powerful than traditional case-control association methods. ..
  31. Population-Based Reference Ranges for Testosterone
    VASAN S RAMACHANDRAN; Fiscal Year: 2010
    ..These steps will facilitate the development of rational criteria for classifying men into androgen-deficient and androgen-replete categories. ..
  32. Uveal Melanoma Micrometastasis
    Pierre L Triozzi; Fiscal Year: 2010
    ..Micrometastases, microscopic deposits of tumor that have spread via the bloodstream, are present in many patients with uveal melanoma at diagnosis. This project will test new methods of identifying and inhibiting these deposits. ..
  33. The Role of SLITRK1 in Tourette and Related Disorders
    Matthew W State; Fiscal Year: 2010
    ..The purpose of this study is to better understand .what causes TD by identifying additional abnormalities in the SLITRK1 gene and by investigating the impact of these unusual genetic changes on the developing brain. ..
  34. Genetics of Early-Onset Depression
    Douglas Levinson; Fiscal Year: 2008
    ..abstract_text> ..
  35. Testosterone Modulation of Response to Phosphodiesterase Inhibitors
    Shalendar Bhasin; Fiscal Year: 2009
    ....
  36. Alpha-1 AD Carriers and Lung Cancer Risk
    Ping Yang; Fiscal Year: 2009
    ..abstract_text> ..
  37. Primary Hormonal Therapy for DCIS of the Breast
    EUN SIL HWANG; Fiscal Year: 2008
    ..If patients could safely be spared from cancer progression while avoiding the morbidity of surgery and radiation for DCIS, the full benefit of early breast cancer detection could be realized. ..
  38. Defibrotide for the treatment of severe hepatic veno-cc*
    Paul Richardson; Fiscal Year: 2007
    ..Abstract Not Provided ..
  39. COMPREHENSIVE VIEWING OF THE HUMAN GENOME
    Peter White; Fiscal Year: 2002
    ..abstract_text> ..
  40. SEQUENCE AND HAPLOTYPES FOR ANALYSIS OF CANCER GENES
    David Nelson; Fiscal Year: 2005
    ..6. Pilot association studies with the markers and haplotypes developed will be initiated. ..
  41. CdLS Scientific Symposium and 22nd National Meeting
    Ian Krantz; Fiscal Year: 2004
    ..This meeting will benefit the participants as well as families of affected individuals. ..
  42. Genetic Association in Austism Disorder
    Kelly Frazer; Fiscal Year: 2004
    ..The identification of autism-associated genetic markers will allow the development of diagnostic tools to identify individuals with high risk of developing autism, and could ultimately lead to therapeutic breakthroughs. ..
  43. Perinatal Vulnerability to Psychosis
    Randal Ross; Fiscal Year: 2004
    ....
  44. Testosterone:Physical Function in Men on Hemodialysis
    Shalender Bhasin; Fiscal Year: 2004
    ..Therefore, if successful, this study should help identify a therapeutic intervention that might improve physical function and reduce disability in men with end stage renal disease. ..
  45. A MULTI-FACETED SEARCH FOR AUTISM DISEASE GENES
    Thomas Wassink; Fiscal Year: 2004
    ..Taken together, the training plan and research proposal provide for a breadth of training, the potential for meaningful discovery, and support for the establishment of an independent research career. ..
  46. INTRACELLULAR MOLECULES OF NICOTINE ADDICTION
    Noboru Hiroi; Fiscal Year: 2004
    ..If these molecules turn out to be important for vulnerability to nicotine addiction, this mouse study will provide a solid basis for genetic analysis of human addiction vulnerability. ..
  47. B-CLASS EPHRINS IN AXON GUIDANCE
    Andrew Bergemann; Fiscal Year: 2004
    ..Through these comparative studies of ephrin function we will determine the post translation mechanisms which regulate their axon guidance activity. ..
  48. CENTRAL MECHANISMS OF ETHANOL DISCRIMINATION
    Clyde Hodge; Fiscal Year: 2003
    ..The long range goal of these studies is to determine the specific brain mechanisms that mediate the subjective stimulus effects of alcohol with the hope of identifying novel targets for drug therapy in alcohol abuse and alcoholism. ..
  49. BAYLOR COLLEGE OF MEDICINE MICROARRY FACILITY FOR NCI FU
    David Nelson; Fiscal Year: 2003
    ..Microarrays of this sort make sense for many applications within our laboratories including gene expression, genotyping, re-sequencing and mutation screening assays. ..
  50. SARCOPENIA--TESTOSTERONE DOSE RESPONSE IN OLDER MEN
    Shalender Bhasin; Fiscal Year: 2002
    ....
  51. The Role of Filamin in Periventricular Heterotopias
    Volney Sheen; Fiscal Year: 2005
    ....
  52. Molecular Stratification of Brain Tumors
    John Cowell; Fiscal Year: 2005
    ..Ultimately we will be able to develop a custom array which will allow an unbiased analysis of brain tumors in an attempt to predict clinical phenotypes such as response to therapy and prognosis. ..
  53. RECOMBINATION MECHANISMS IN YEAST CELL DIFFERENTIATION
    James Haber; Fiscal Year: 2006
    ..abstract_text> ..
  54. Pten regulation of growth and neoplasia in the brain
    Suzanne Baker; Fiscal Year: 2006
    ..We will determine if the same signaling pathways that contribute to aberrant regulation of cell size in post-mitotic neurons are critical to Pten function in normal and neoplastic growth in astrocytes. ..
  55. MOLECULAR APPROACHES TO CHILDHOOD PSYCHIATRIC DISORDERS
    Matthew State; Fiscal Year: 2006
    ..abstract_text> ..
  56. TESTOSTERONE REPLACEMENT & PHYSICAL FUNCTION IN HIV+MEN
    Shalender Bhasin; Fiscal Year: 2005
    ..This study should help identify a therapeutic intervention that might improve physical function in HIV-infected men with weight loss, and enhance our understanding of the mechanisms by which testosterone stimulates muscle accretion. ..
  57. Evolutionary Conserved Sequences in the Human Genome
    Kelly Frazer; Fiscal Year: 2005
    ..abstract_text> ..
  58. MOLECULAR GENETICS OF AUTISM
    Thomas Wassink; Fiscal Year: 2006
    ..The WNT2 findings will be further examined in two-independent patient samples. ..
  59. THE MUTAGENICITY OF MINERAL FIBERS
    TOM HEI; Fiscal Year: 2006
    ..By using specific DNA probes of other genes that have been regionally mapped to various sites on chromosome 11, the molecular spectrum of mutations induced by either asbestos or glass fiber control will be compared. ..
  60. Preservation of ejaculated mouse spermatozoa
    MONIKA WARD; Fiscal Year: 2006
    ..Our expectations are that the results of this application will allow us to recommend ICSI with preserved ejaculated spermatozoa as a simple and efficient method for preservation of valuable mouse genomes. ..
  61. Outcomes of Genetic Testing for Hearing Impairment
    Ian Krantz; Fiscal Year: 2005
    ..abstract_text> ..
  62. Molecular Analysis of the Cornelia de Lange Syndrome
    Ian Krantz; Fiscal Year: 2005
    ..abstract_text> ..
  63. THE ROLE OF RB IN THE RETINA & OTHER TISSUES
    JAMES HARBOUR; Fiscal Year: 2009
    ..Consequently, these aims are highly relevant to the vision statement of the NEI, and they address several major program goals and objectives of the Retinal Diseases Program. ..
  64. Computational Statistic Approaches to Gene-Environment Interaction
    SEBASTIAN ZOELLNER; Fiscal Year: 2009
    ..We intend to use this dataset as well as simulated datasets and other GWA datasets to evaluate and calibrate our methods for estimating genotype-phenotype interaction and for planning replication studies. (End of Abstract) ..
  65. BRAIN MIDLINE MALFORMATION IN SCHIZOPHRENIA
    Curtis Deutsch; Fiscal Year: 2003
    ..4) Finally, we will document the degree to which brain and face dysmorphology coheres within subjects, as predicted by the embryological model. ..
  66. Interactive Craniofacial Normative Database (Phase II)
    Curtis Deutsch; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable]..
  67. BACKTRACKING TRANSLOCATIONS IN CHILDHOOD LEUKEMIA
    Joseph Wiemels; Fiscal Year: 2006
    ..We are ultimately working to elucidate the origin and causes of a cancer that might be preventable. [unreadable] [unreadable]..