homozygote

Summary

Summary: An individual in which both alleles at a given locus are identical.

Top Publications

  1. ncbi Detecting recent positive selection in the human genome from haplotype structure
    Pardis C Sabeti
    Whitehead Institute MIT Center for Genome Research, Nine Cambridge Center, Cambridge, Massachusetts 02142, USA
    Nature 419:832-7. 2002
  2. pmc A second generation human haplotype map of over 3.1 million SNPs
    Kelly A Frazer
    The Scripps Research Institute, 10550 North Torrey Pines Road MEM275, La Jolla, California 92037, USA
    Nature 449:851-61. 2007
  3. pmc Genomic patterns of homozygosity in worldwide human populations
    Trevor J Pemberton
    Department of Biology, Stanford University, Stanford, CA 94305, USA
    Am J Hum Genet 91:275-92. 2012
  4. pmc Runs of homozygosity in European populations
    Ruth McQuillan
    Public Health Sciences, University of Edinburgh Medical School, Edinburgh EH8 9AG, UK
    Am J Hum Genet 83:359-72. 2008
  5. pmc Efficient assembly and annotation of the transcriptome of catfish by RNA-Seq analysis of a doubled haploid homozygote
    Shikai Liu
    The Fish Molecular Genetics and Biotechnology Laboratory, Department of Fisheries and Allied Aquacultures and Program of Cell and Molecular Biosciences, Aquatic Genomics Unit, Auburn University, Auburn, AL 36849, USA
    BMC Genomics 13:595. 2012
  6. pmc A fast, powerful method for detecting identity by descent
    Brian L Browning
    Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98105, USA
    Am J Hum Genet 88:173-82. 2011
  7. ncbi Complement factor H polymorphism and age-related macular degeneration
    Albert O Edwards
    Department of Ophthalmology and McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center UTSWMC, 5323 Harry Hines Boulevard, Dallas, TX 75390, USA
    Science 308:421-4. 2005
  8. pmc High-resolution detection of identity by descent in unrelated individuals
    Sharon R Browning
    Department of Statistics, University of Auckland, Auckland, New Zealand
    Am J Hum Genet 86:526-39. 2010
  9. pmc Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy
    Yukiko K Hayashi
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    J Clin Invest 119:2623-33. 2009
  10. pmc Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa
    Rob W J Collin
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Hum Genet 86:783-8. 2010

Detail Information

Publications323 found, 100 shown here

  1. ncbi Detecting recent positive selection in the human genome from haplotype structure
    Pardis C Sabeti
    Whitehead Institute MIT Center for Genome Research, Nine Cambridge Center, Cambridge, Massachusetts 02142, USA
    Nature 419:832-7. 2002
    ..More generally, the method could be used to scan the entire genome for evidence of recent positive selection...
  2. pmc A second generation human haplotype map of over 3.1 million SNPs
    Kelly A Frazer
    The Scripps Research Institute, 10550 North Torrey Pines Road MEM275, La Jolla, California 92037, USA
    Nature 449:851-61. 2007
    ..Finally, we demonstrate increased differentiation at non-synonymous, compared to synonymous, SNPs, resulting from systematic differences in the strength or efficacy of natural selection between populations...
  3. pmc Genomic patterns of homozygosity in worldwide human populations
    Trevor J Pemberton
    Department of Biology, Stanford University, Stanford, CA 94305, USA
    Am J Hum Genet 91:275-92. 2012
    ..These results provide insight into the way in which homozygosity patterns are produced, and they generate baseline homozygosity patterns that can be used to aid homozygosity mapping of genes associated with recessive diseases...
  4. pmc Runs of homozygosity in European populations
    Ruth McQuillan
    Public Health Sciences, University of Edinburgh Medical School, Edinburgh EH8 9AG, UK
    Am J Hum Genet 83:359-72. 2008
    ....
  5. pmc Efficient assembly and annotation of the transcriptome of catfish by RNA-Seq analysis of a doubled haploid homozygote
    Shikai Liu
    The Fish Molecular Genetics and Biotechnology Laboratory, Department of Fisheries and Allied Aquacultures and Program of Cell and Molecular Biosciences, Aquatic Genomics Unit, Auburn University, Auburn, AL 36849, USA
    BMC Genomics 13:595. 2012
    ..To conduct phylogenetic analysis and orthology analysis, full-length transcripts are essential. Generation of large numbers of full-length transcripts using traditional transcript sequencing is very difficult and extremely costly...
  6. pmc A fast, powerful method for detecting identity by descent
    Brian L Browning
    Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98105, USA
    Am J Hum Genet 88:173-82. 2011
    ..This is useful for estimation of relationship and for adjusting for relatedness in association studies. FastIBD is incorporated in the freely available Beagle software package...
  7. ncbi Complement factor H polymorphism and age-related macular degeneration
    Albert O Edwards
    Department of Ophthalmology and McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center UTSWMC, 5323 Harry Hines Boulevard, Dallas, TX 75390, USA
    Science 308:421-4. 2005
    ..Possession of at least one histidine at amino acid position 402 increased the risk of AMD 2.7-fold and may account for 50% of the attributable risk of AMD...
  8. pmc High-resolution detection of identity by descent in unrelated individuals
    Sharon R Browning
    Department of Statistics, University of Auckland, Auckland, New Zealand
    Am J Hum Genet 86:526-39. 2010
    ..We detect HBD in 4.7 individuals per 10,000 on average at a given location. Our methodology is implemented in the freely available BEAGLE software package...
  9. pmc Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy
    Yukiko K Hayashi
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    J Clin Invest 119:2623-33. 2009
    ....
  10. pmc Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa
    Rob W J Collin
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Hum Genet 86:783-8. 2010
    ..In conclusion, truncating mutations in C2ORF71 were identified in three unrelated families, thereby confirming the involvement of this gene in the etiology of arRP...
  11. ncbi Regions of homozygosity and their impact on complex diseases and traits
    Chee Seng Ku
    Department of Epidemiology and Public Health, Centre for Molecular Epidemiology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore
    Hum Genet 129:1-15. 2011
    ..The homozygosity association approach holds great promise in identifying genetic susceptibility loci harboring recessive variants for complex diseases and traits...
  12. pmc A maternal-zygotic effect gene, Zfp57, maintains both maternal and paternal imprints
    Xiajun Li
    Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
    Dev Cell 15:547-57. 2008
    ..The effects on genomic imprinting are consistent with the maternal-zygotic lethality of Zfp57 mutants...
  13. ncbi Both heterozygous and homozygous alpha+ thalassemias protect against severe and fatal Plasmodium falciparum malaria on the coast of Kenya
    Thomas N Williams
    Wellcome Trust Kenya Medical Research Institute KEMRI, Centre for Geographic Medicine Research, Kilifi, Kenya
    Blood 106:368-71. 2005
    ..Our study supports the conclusion that both heterozygotes and homozygotes enjoy a selective advantage against death from Plasmodium falciparum malaria...
  14. ncbi Deep sequencing reveals 50 novel genes for recessive cognitive disorders
    Hossein Najmabadi
    Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, 19857 Tehran, Iran
    Nature 478:57-63. 2011
    ....
  15. pmc Runs of homozygosity reveal highly penetrant recessive loci in schizophrenia
    Todd Lencz
    Department of Psychiatry Research, Zucker Hillside Hospital, North Shore Long Island Jewish Health System, 75 59 263rd Street, Glen Oaks, NY 11004, USA
    Proc Natl Acad Sci U S A 104:19942-7. 2007
    ..Other risk ROHs feature haplotypes that are also common in healthy individuals, possibly indicating a source of balancing selection...
  16. ncbi Homozygous defect in HIV-1 coreceptor accounts for resistance of some multiply-exposed individuals to HIV-1 infection
    R Liu
    Aaron Diamond AIDS Research Center, Rockefeller University New York, New York 10016, USA
    Cell 86:367-77. 1996
    ..These findings indicate the importance of CKR-5 in HIV-1 transmission and suggest that targeting the HIV-1-CKR-5 interaction may provide a means of preventing or slowing disease progression...
  17. pmc FISH analysis of 107 prostate cancers shows that PTEN genomic deletion is associated with poor clinical outcome
    M Yoshimoto
    Division of Applied Molecular Oncology, Ontario Cancer Institute, Princess Margaret Hospital, Toronto, Ontario, M5G 2M9, Canada
    Br J Cancer 97:678-85. 2007
    ..Collectively, our data indicates that haploinsufficiency or PTEN genomic loss is an indicator of more advanced disease at surgery, and is predictive of a shorter time to biochemical recurrence of disease...
  18. pmc Novel multilocus measure of linkage disequilibrium to estimate past effective population size
    Ben J Hayes
    Victorian Institute of Animal Science, Department of Natural Resources and Environment, Attwood, Victoria, 3049, Australia
    Genome Res 13:635-43. 2003
    ..Results indicated an exponentially increasing N in humans and a declining N in dairy cattle. CSH is a valuable statistic for inferring population histories from haplotype data, and has implications for mapping of disease loci...
  19. pmc Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta
    Jutta Becker
    Institute of Human Genetics, University of Cologne, Cologne, Germany
    Am J Hum Genet 88:362-71. 2011
    ..PEDF is a multifunctional protein and one of the strongest inhibitors of angiogenesis currently known in humans. Our data provide genetic evidence for PEDF involvement in human bone homeostasis...
  20. pmc Rapid identification of a disease allele in mouse through whole genome sequencing and bulk segregation analysis
    Carrie N Arnold
    Department of Genetics, Institute for Childhood and Neglected Disease, The Scripps Research Institute, La Jolla, California 92037, USA
    Genetics 187:633-41. 2011
    ..Our study demonstrates the speed and utility of whole genome sequencing coupled with low resolution meiotic mapping as a means of identifying causative mutations induced by ENU...
  21. ncbi High-resolution DNA melting analysis: advancements and limitations
    Carl T Wittwer
    Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
    Hum Mutat 30:857-9. 2009
    ....
  22. pmc Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma
    Minji Byun
    St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA
    J Exp Med 207:2307-12. 2010
    ....
  23. pmc Runs of homozygosity and population history in cattle
    Deirdre C Purfield
    Smurfit Institute of Genetics, University of Dublin, Trinity College, Dublin 2, Ireland
    BMC Genet 13:70. 2012
    ..This study provides a first testing of the inference drawn from ROH through comparison with estimates of inbreeding from calculations based on the detailed pedigree data available for several breeds...
  24. ncbi Homozygous familial hypercholesterolemia: current perspectives on diagnosis and treatment
    Frederick J Raal
    Carbohydrate and Lipid Metabolism Research Unit, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa
    Atherosclerosis 223:262-8. 2012
    ..The purpose of this review is to provide current perspectives on diagnosis and therapy in an effort to encourage early recognition and treatment of this rare but severe disease...
  25. pmc Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening
    Hardeep Pal Singh
    Kallam Anji Reddy Molecular Genetics Laboratory, Champalimaud Translational Centre for Eye Research, Hyderabad Eye Research Foundation, Hyderabad, India
    Invest Ophthalmol Vis Sci 50:4065-71. 2009
    ..To identify the disease-causing genes in families with autosomal recessive RP (ARRP)...
  26. pmc Runs of homozygosity identify a recessive locus 12q21.31 for human adult height
    Tie Lin Yang
    Key Laboratory of Biomedical Information Engineering, Ministry of Education and Institute of Molecular Genetics, School of Life Science and Technology, Xi an Jiaotong University, Xi an 710049, People s Republic of China
    J Clin Endocrinol Metab 95:3777-82. 2010
    ..Human adult height is a classic complex trait with heritability estimated up to 90%, and recessive loci that contribute to adult height variation have been identified...
  27. pmc HomozygosityMapper--an interactive approach to homozygosity mapping
    Dominik Seelow
    Department of Neuropaediatrics, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, D 13353 Berlin, Germany
    Nucleic Acids Res 37:W593-9. 2009
    ..They can at any point restrict access to their data or make it public, allowing HomozygosityMapper to be used as a data repository for homozygosity-mapping studies. HomozygosityMapper is available at http://www.homozygositymapper.org/...
  28. ncbi Influence of life stress on depression: moderation by a polymorphism in the 5-HTT gene
    Avshalom Caspi
    Medical Research Council Social, Genetic, and Developmental Psychiatry Research Centre, Institute of Psychiatry, King s College London, PO80 De Crespigny Park, London, SE5 8AF, UK
    Science 301:386-9. 2003
    ..This epidemiological study thus provides evidence of a gene-by-environment interaction, in which an individual's response to environmental insults is moderated by his or her genetic makeup...
  29. pmc Quantification of inbreeding due to distant ancestors and its detection using dense single nucleotide polymorphism data
    Matthew C Keller
    Department of Psychology and Neuroscience, Institute for Behavioral Genetics, University of Colorado, Boulder, CO 80309, USA
    Genetics 189:237-49. 2011
    ..However, large samples (e.g., 12,000-65,000) will be required to detect inbreeding depression for likely effect sizes, and so studies using Froh to date have probably been underpowered...
  30. ncbi Frequency of germline genomic homozygosity associated with cancer cases
    Guillaume Assie
    Genomic Medicine Institute, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA
    JAMA 299:1437-45. 2008
    ....
  31. ncbi Consequences of lack of beta 1 integrin gene expression in mice
    R Fassler
    Max Planck Institut fur Biochemie, Martinsried, Germany
    Genes Dev 9:1896-908. 1995
    ..Also, tissues derived from the neural crest contained beta 1 integrin-deficient cells indicating that migration of neuronal cells as well as neural crest cells can occur in the absence of beta 1 integrins...
  32. ncbi Targeted disruption of mouse EGF receptor: effect of genetic background on mutant phenotype
    D W Threadgill
    Department of Genetics, Case Western Reserve University, Cleveland, OH 44106 4955, USA
    Science 269:230-4. 1995
    ..The multiple abnormalities associated with EGFR deficiency indicate that the receptor is involved in a wide range of cellular activities...
  33. pmc Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa
    Rob W J Collin
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6525 GA Nijmegen, The Netherlands
    Am J Hum Genet 83:594-603. 2008
    ..With a size of 2 Mb, it is one of the largest human genes, and it is by far the largest retinal dystrophy gene. The discovery of EYS might shed light on a critical component of photoreceptor morphogenesis...
  34. ncbi Genome-wide homozygosity signatures and childhood acute lymphoblastic leukemia risk
    Fay J Hosking
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, United Kingdom
    Blood 115:4472-7. 2010
    ..Our findings make it unlikely that levels of measured homozygosity, caused by autozygosity, uniparental isodisomy, or hemizygosity, play a major role in defining BCP-ALL risk in predominantly outbred populations...
  35. pmc Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa
    Hui Wang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 84:380-7. 2009
    ..Furthermore, we determined that Spata7 is expressed in the mature mouse retina. Our findings reveal another human visual-disease gene that causes LCA and juvenile RP...
  36. ncbi Insertional mutagenesis of the mouse acid ceramidase gene leads to early embryonic lethality in homozygotes and progressive lipid storage disease in heterozygotes
    Chi Ming Li
    Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA
    Genomics 79:218-24. 2002
    ....
  37. pmc In Candida albicans, white-opaque switchers are homozygous for mating type
    Shawn R Lockhart
    Department of Biological Sciences, The University of Iowa, Iowa City 52242, USA
    Genetics 162:737-45. 2002
    ..albicans. Our results demonstrate that mating-competent strains of C. albicans exist naturally in patient populations and suggest that mating may play a role in the genesis of diversity in this pernicious fungal pathogen...
  38. 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...
  39. pmc A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
    C L Lorson
    Department of Dermatology, New England Medical Center, Tufts University School of Medicine, Boston, MA 02111, USA
    Proc Natl Acad Sci U S A 96:6307-11. 1999
    ..Because individuals with SMA retain the SMN2 allele, therapy targeted at preventing exon 7 skipping could modify clinical outcome...
  40. pmc Genomic runs of homozygosity record population history and consanguinity
    Mirna Kirin
    Centre for Population Health Sciences, University of Edinburgh, Edinburgh, United Kingdom
    PLoS ONE 5:e13996. 2010
    ..Individual ROH measures will also allow quantification of the disease risk arising from polygenic recessive effects...
  41. pmc Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa
    Alice E Davidson
    Genetic Medicine, The University of Manchester, Manchester Academic Heath Science Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK
    Am J Hum Genet 85:581-92. 2009
    ..L140V and p.D228N) caused mislocalization of bestrophin-1 from the basolateral membrane to the cytoplasm. Mutations in bestrophin-1 are increasingly recognized as an important cause of inherited retinal dystrophy...
  42. pmc Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics
    Michael A Nalls
    Laboratory of Neurogenetics, Intramural Research Program, National Institute on Aging, Bethesda, Maryland, United States of America
    PLoS Genet 5:e1000415. 2009
    ..Autozygosity has declined, and it seems it will continue doing so...
  43. ncbi Mutations of keratinocyte transglutaminase in lamellar ichthyosis
    M Huber
    Department of Dermatology, Centre Hospitalier Universitaire Vandois CHUV, Hôpital de Beaumont, Lausanne, Switzerland
    Science 267:525-8. 1995
    ..These data suggest that defects in TGK cause lamellar ichthyosis and that intact cross-linkage of cornified cell envelopes is required for epidermal tissue homeostasis...
  44. pmc A systematic approach to mapping recessive disease genes in individuals from outbred populations
    Friedhelm Hildebrandt
    Department of Pediatrics, University of Michigan School of Medicine, Ann Arbor, Michigan, United States of America
    PLoS Genet 5:e1000353. 2009
    ....
  45. ncbi Genomic and geographic distribution of SNP-defined runs of homozygosity in Europeans
    Michael Nothnagel
    Institute of Medical Informatics and Statistics, Christian Albrechts University, 24105 Kiel, Germany
    Hum Mol Genet 19:2927-35. 2010
    ..As a consequence, the planning, design and interpretation of ROH-based genetic studies must take sample origin into account in order for such studies to be sensible and valid...
  46. pmc Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations
    Karin W Littink
    The Rotterdam Eye Hospital, Rotterdam, The Netherlands
    Invest Ophthalmol Vis Sci 51:5943-51. 2010
    ..To determine the genetic defect and to describe the clinical characteristics in a cohort of mainly nonconsanguineous cone-rod dystrophy (CRD) patients...
  47. ncbi Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course
    Ferdinando Squitieri
    Neurogenetics Unit, IRCCS INM Neuromed, Pozzilli Is, Italy
    Brain 126:946-55. 2003
    ..The age at onset of symptoms in the homozygote cases was within the range expected for heterozygotes with the same CAG repeat lengths, whereas homozygotes had ..
  48. pmc LOC387715/HTRA1 gene polymorphisms and susceptibility to age-related macular degeneration: A HuGE review and meta-analysis
    Yu Tong
    Laboratory of Early Development and Injuries, Center for Research of Child Development and Disease, West China Second University Hospital, Chengdu, China
    Mol Vis 16:1958-81. 2010
    ....
  49. ncbi High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population
    Rob W J Collin
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Geert Grooteplein 10, Nijmegen, The Netherlands
    Invest Ophthalmol Vis Sci 52:2227-39. 2011
    ..The hypothesis was that, because there has been little migration over the past centuries in certain areas of The Netherlands, a significant fraction of Dutch arRP patients carry their genetic defect in the homozygous state...
  50. ncbi No evidence for excess runs of homozygosity in bipolar disorder
    Anna E Vine
    Centre for Psychiatry, University College London, UK
    Psychiatr Genet 19:165-70. 2009
    ..Of these, four contained or neighboured genes associated with schizophrenia (NOS1AP/UHMK1, ATF2, NSF and PIK3C3)...
  51. ncbi Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides
    Jaspal S Kooner
    National Heart and Lung Institute, Imperial College London, UK
    Nat Genet 40:149-51. 2008
    ..4 x 10(-10)). MLXIPL coordinates transcriptional regulation of enzymes that channel glycolytic end-products into lipogenesis and energy storage, making MLXIPL a plausible 'thrifty gene'...
  52. pmc Identifying autism loci and genes by tracing recent shared ancestry
    Eric M Morrow
    Division of Genetics, Children s Hospital Boston and Harvard Medical School, Boston, MA 02115, USA
    Science 321:218-23. 2008
    ....
  53. ncbi RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy
    Alice E Davidson
    University College London Institute of Ophthalmology, London, UK
    Hum Mutat 34:506-14. 2013
    ..These findings imply an important and diverse role for RP1L1 in human retinal physiology and disease...
  54. ncbi A replicated molecular genetic basis for subtyping antisocial behavior in children with attention-deficit/hyperactivity disorder
    Avshalom Caspi
    Medical Research Council Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King s College London, London, England
    Arch Gen Psychiatry 65:203-10. 2008
    ..Attention-deficit/hyperactivity disorder (ADHD) is a heterogeneous neurodevelopmental disorder that in some cases is accompanied by antisocial behavior...
  55. pmc Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities
    Oscar Rubio-Cabezas
    Institute of Biomedical and Clinical Science, Peninsula Medical School, University of Exeter, Exeter, UK
    Diabetes 59:2326-31. 2010
    ..Heterozygous mutations have previously been identified as a rare cause of maturity-onset diabetes of the young (MODY). We aimed to explore the potential contribution of NEUROD1 mutations in patients with permanent neonatal diabetes...
  56. pmc Hydrops fetalis associated with homozygosity for Hb Adana [alpha59(E8)Gly-->Asp (alpha2)]
    Ita M Nainggolan
    The Eijkman Institute for Molecular Biology, Jakarta, Indonesia
    Hemoglobin 34:394-401. 2010
    ....
  57. pmc Homozygous P86S mutation of the human glucagon receptor is associated with hyperglucagonemia, alpha cell hyperplasia, and islet cell tumor
    Cuiqi Zhou
    Division of Endocrinology, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
    Pancreas 38:941-6. 2009
    ..The goal of the study was to investigate the genetic and molecular basis of a novel syndrome of marked hyperglucagonemia and pancreatic alpha cell hyperplasia without glucagonoma syndrome...
  58. ncbi PNPLA3 rs738409C/G polymorphism in cirrhosis: relationship with the aetiology of liver disease and hepatocellular carcinoma occurrence
    Edmondo Falleti
    Department of Medical Sciences Experimental and Clinical, University of Udine, Udine, Italy
    Liver Int 31:1137-43. 2011
    ..Whether the PNPLA3 rs738409 polymorphism could be a risk factor for the development of hepatocellular carcinoma (HCC) in cirrhosis patients is unknown...
  59. pmc Runs of homozygosity do not influence survival to old age
    Maris Kuningas
    Department of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands
    PLoS ONE 6:e22580. 2011
    ..5 Mb, on survival during a mean follow-up period of 12 years. None of these measures of homozygosity was associated with survival to old age...
  60. ncbi Association between inducible and neuronal nitric oxide synthase polymorphisms and recurrent depressive disorder
    Piotr Gałecki
    Department of Adult Psychiatry, Medical University of Łódź, Poland
    J Affect Disord 129:175-82. 2011
    ..The aim of this study was to examine whether a single nucleotide polymorphism (SNP) present in the genes encoding iNOS and nNOS can contribute to the risk of developing recurrent depressive disorder (rDD)...
  61. ncbi A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese
    S Fuchs
    Institut fur Humangenetik, Universitats Krankenhaus Eppendorf, Hamburg, Germany
    Nat Genet 10:360-2. 1995
    ....
  62. ncbi A genetic variant in the promoter region of Toll-like receptor 9 and cervical cancer susceptibility
    Xiaojun Chen
    Tumor Hospital of Nantong City, Nantong, China
    DNA Cell Biol 31:766-71. 2012
    ..28, 95% CI=1.01-1.62), compared with the TT genotype. Although the variant homozygote was associated with a nonsignificantly increased cervical cancer risk, the TC/CC genotypes contributed to the ..
  63. ncbi Hemochromatosis and iron-overload screening in a racially diverse population
    Paul C Adams
    Department of Medicine, London Health Sciences Centre, London, Ont, Canada
    N Engl J Med 352:1769-78. 2005
    ..Iron overload and hemochromatosis are common, treatable conditions. HFE genotypes, levels of serum ferritin, transferrin saturation values, and self-reported medical history were studied in a multiethnic primary care population...
  64. ncbi Molecular characterization of familial hypercholesterolemia in Spain
    Lourdes Palacios
    Progenika Biopharma SA, 48160 Derio, Spain
    Atherosclerosis 221:137-42. 2012
    ..This study analyzes the mutation spectrum in Spain, remarks the importance of genetic diagnosis of FH patients, as well as the cascade screening, and shows how it is being carried out in Spain...
  65. ncbi Relationship of a common polymorphism of the glucocorticoid receptor gene to traumatic memories and posttraumatic stress disorder in patients after intensive care therapy
    Daniela Hauer
    Departments of Anaesthesiology, Ludwig Maximilians University, Munich, Germany
    Crit Care Med 39:643-50. 2011
    ....
  66. ncbi Genetic variation in TAS1R2 (Ile191Val) is associated with consumption of sugars in overweight and obese individuals in 2 distinct populations
    Karen M Eny
    Department of Nutritional Sciences and the Dalla Lana School of Public Health, University of Toronto, Toronto, Canada
    Am J Clin Nutr 92:1501-10. 2010
    ..Taste is an important determinant of food consumption, and genetic variations in the sweet taste receptor subunit TAS1R2 may contribute to interindividual variations in sugar consumption...
  67. ncbi Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolaemia: a single-arm, open-label, phase 3 study
    Marina Cuchel
    Institute for Translational Medicine and Therapeutics, Cardiovascular Institute, University of Pennsylvania, Philadelphia, PA 19104, USA
    Lancet 381:40-6. 2013
    ..Patients with homozygous familial hypercholesterolaemia respond inadequately to existing drugs. We aimed to assess the efficacy and safety of the microsomal triglyceride transfer protein inhibitor lomitapide in adults with this disease...
  68. pmc Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome
    Sheila Santin
    Fundacio Puigvert, Cartagena 340 350, 08025 Barcelona, Spain
    Clin J Am Soc Nephrol 6:344-54. 2011
    ..To date, very few cases with adult-onset focal segmental glomerulosclerosis (FSGS) carrying NPHS2 variants have been described, all of them being compound heterozygous for the p.R229Q variant and one pathogenic mutation...
  69. pmc Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease
    Naomi J Lohr
    Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado at Denver, Aurora, CO, USA
    Am J Hum Genet 86:447-53. 2010
    ..These patients not only have multisystem autoimmune disease but also display morphologic and developmental abnormalities. This disorder underscores the importance of ITCH ubiquitin ligase in many cellular processes...
  70. ncbi Four-year follow-up of diagnostic service in USH1 patients
    Anne Francoise Roux
    Laboratoire de Genetique Moleculaire, Montpellier, France
    Invest Ophthalmol Vis Sci 52:4063-71. 2011
    ..The purpose of this study was to establish the mutation spectrum of an Usher type I cohort of 61 patients from France and to describe a diagnostic strategy, including a strategy for estimating the pathogenicity of sequence changes...
  71. pmc Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation
    Dirk J Lefeber
    Department of Neurology, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    PLoS Genet 7:e1002427. 2011
    ..We thus identified a combined deficiency of protein N-glycosylation and alpha-dystroglycan O-mannosylation in patients with nonsyndromic DCM due to autosomal recessive DOLK mutations...
  72. pmc Double homozygous waltzer and Ames waltzer mice provide no evidence of retinal degeneration
    Zubair M Ahmed
    National Institute on Deafness and Other Communication Disorders, NIH, Rockville, MD 20850, USA
    Mol Vis 14:2227-36. 2008
    ..Does homozygosity for both v and av mutant alleles (i.e., a double homozygous mouse) cause retinal degeneration or an obvious retinal histopathology?..
  73. pmc Homozygous and heterozygous p53 knockout rats develop metastasizing sarcomas with high frequency
    Ruben van Boxtel
    Hubrecht Institute for Developmental Biology and Stem Cell Research, Cancer Genomics Center, KNAW and University Medical Center Utrecht, Utrecht, The Netherlands
    Am J Pathol 179:1616-22. 2011
    ..These unique features make this rat highly complementary to other rodent p53 knockout models and a versatile tool for investigating tumorigenesis processes as well as genotoxic studies...
  74. pmc Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation
    Hiroshi Doi
    Department of Human Genetics, Graduate School of Medicine, Yokohama City University, 3 9 Fukuura, Kanazawa Ku, Yokohama, Japan
    Am J Hum Genet 89:320-7. 2011
    ....
  75. pmc The genetic structure of the Swedish population
    Keith Humphreys
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden
    PLoS ONE 6:e22547. 2011
    ....
  76. pmc Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis
    David H McDermott
    Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA
    Blood 116:2793-802. 2010
    ..Thus, myelokathexis associated with abnormally high neutrophil CXCR4 expression may contribute to neutropenia in G6PC3 deficiency and responds well to granulocyte colony-stimulating factor...
  77. pmc A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa
    Anneke I den Hollander
    Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Massachusetts 02114, USA
    Invest Ophthalmol Vis Sci 50:1864-72. 2009
    ..This study was performed to determine whether mutations in the IRBP gene (RBP3) are associated with photoreceptor degeneration...
  78. pmc Homocysteine and cardiovascular disease: evidence on causality from a meta-analysis
    David S Wald
    Department of Cardiology, Southampton General Hospital, Southampton SO16 6YD
    BMJ 325:1202. 2002
    ....
  79. pmc Risk of breast and prostate cancer is not associated with increased homozygosity in outbred populations
    Victor Enciso-Mora
    Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey, UK
    Eur J Hum Genet 18:909-14. 2010
    ....
  80. pmc Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa
    Dikla Bandah-Rozenfeld
    Department of Ophthalmology, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Am J Hum Genet 87:382-91. 2010
    ....
  81. ncbi Hierarchical fine mapping of the cystic fibrosis modifier locus on 19q13 identifies an association with two elements near the genes CEACAM3 and CEACAM6
    Frauke Stanke
    Department of Pediatrics, Hannover Medical School, Hannover, Germany
    Hum Genet 127:383-94. 2010
    ....
  82. pmc Retrotransposon insertion in SILV is responsible for merle patterning of the domestic dog
    Leigh Anne Clark
    Departments of Pathobiology and Small Animal Clinical Sciences, College of Veterinary Medicine and Biomedical Sciences, Texas A and M University, College Station, TX 77843, USA
    Proc Natl Acad Sci U S A 103:1376-81. 2006
    ..Although the mutant phenotype of SILV in the human is unknown, these results make it an intriguing candidate gene for human auditory-pigmentation disorders...
  83. pmc Evidence for retinal remodelling in retinitis pigmentosa caused by PDE6B mutation
    Samuel G Jacobson
    Br J Ophthalmol 91:699-701. 2007
  84. pmc A case-control study of polymorphisms in xenobiotic and arsenic metabolism genes and arsenic-related bladder cancer in New Hampshire
    Corina Lesseur
    Department of Community and Family Medicine, Dartmouth Medical School, Lebanon, NH 03756, USA
    Toxicol Lett 210:100-6. 2012
    ....
  85. ncbi Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia
    Sonny O Ang
    Department of Medicine, Baylor College of Medicine, Houston, Texas 77030, USA
    Nat Genet 32:614-21. 2002
    ....
  86. ncbi Genetic variants in cell cycle control pathway confer susceptibility to lung cancer
    Wei Wang
    Department of Epidemiology, The University of Texas M D Anderson Cancer Center, Houston, Texas 77030, USA
    Clin Cancer Res 13:5974-81. 2007
    ..To test the hypothesis that common sequence variants of cell cycle control genes may affect lung cancer predisposition...
  87. pmc Protease-sensitive conformers in broad spectrum of distinct PrPSc structures in sporadic Creutzfeldt-Jakob disease are indicator of progression rate
    Chae Kim
    Department of Pathology, School of Medicine, Case Western Reserve University, Cleveland, Ohio, USA
    PLoS Pathog 7:e1002242. 2011
    ..The link between disease duration, levels, and stability of protease-sensitive conformers of PrP(Sc) suggests that these conformers play an important role in the pathogenesis of sCJD...
  88. pmc Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa
    Dikla Bandah-Rozenfeld
    Department of Ophthalmology, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Am J Hum Genet 87:199-208. 2010
    ..Our data therefore show that mutations in a structural component of the interphotoreceptor matrix can cause arRP...
  89. ncbi Alpha(+)-thalassemia protects African children from severe malaria
    Frank P Mockenhaupt
    Institute of Tropical Medicine, Charite, Humboldt University, Berlin, Germany
    Blood 104:2003-6. 2004
    ..52; 95% CI, 0.34-0.78) and to wane with age. No protective effect was discernible for homozygous children. Our findings provide evidence for natural selection of alpha(+)-thalassemia in Africa due to protection from severe malaria...
  90. pmc Control of HIV-1 viremia and protection from AIDS are associated with HLA-Bw4 homozygosity
    P O Flores-Villanueva
    Dana-Farber Cancer Institute, One Jimmy Fund Way, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 98:5140-5. 2001
    ..We conclude that homozygosity for HLA-Bw4-bearing B alleles is associated with a significant advantage and that the HLA-Bw4 motif is important in AIDS pathogenesis...
  91. ncbi Gene polymorphism of t-PA is associated with forearm vascular release rate of t-PA
    C Jern
    Clinical Experimental Research Laboratory, Heart and Lung Institute, and Department of Neurology, Institute of Clinical Neuroscience, Sahlgrenska University Hospital, Goteborg University, Sweden
    Arterioscler Thromb Vasc Biol 19:454-9. 1999
    ..The relationship is not reflected by circulating steady-state plasma levels and can thus not be disclosed by conventional venous plasma sampling...
  92. pmc Lecithin-retinol acyltransferase is essential for accumulation of all-trans-retinyl esters in the eye and in the liver
    Matthew L Batten
    Department of Ophthalmology, University of Washington, Seattle, Washington 98195, USA
    J Biol Chem 279:10422-32. 2004
    ..We conclude that Lrat-/- mice may serve as an animal model with early onset severe retinal dystrophy and severe retinyl ester deprivation...
  93. pmc Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4
    J M Newton
    Department of Pediatrics, University of Arizona College of Medicine, Tucson, AZ 85724, USA
    Am J Hum Genet 69:981-8. 2001
    ..The encoded protein, MATP (for "membrane-associated transporter protein") is predicted to span the membrane 12 times and likely functions as a transporter...
  94. ncbi Early embryonic lethality of H ferritin gene deletion in mice
    C Ferreira
    INSERM U409, Faculte X Bichat, 16 rue Henri Huchard, 75018 Paris, France
    J Biol Chem 275:3021-4. 2000
    ..The pattern of expression of the wild type Fth gene in 9.5-day embryos is suggestive of an important function of the H ferritin gene in the heart...
  95. ncbi Identification of a new genetic defect responsible for the polymorphism of (S)-mephenytoin metabolism in Japanese
    S M de Morais
    National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina 27709
    Mol Pharmacol 46:594-8. 1994
    ..Genetic testing of the families of two Japanese poor metabolizer probands showed that coinheritance of the CYP2C19m1 and CYP2C19m2 alleles was concordant with the autosomal recessive inheritance of the poor metabolizer phenotype...
  96. pmc Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations
    Anna Rajab
    Genetics Unit, Ministry of Health, Directorate General of Health Affairs, Royal Hospital, Muscat, Oman
    PLoS Genet 6:e1000874. 2010
    ..The loss of caveolae was confirmed by Atomic Force Microscopy (AFM) in combination with fluorescent imaging. PTRF-CAVIN deficiency thus presents the phenotypic spectrum caused by a quintessential lack of functional caveolae...
  97. ncbi Colorectal cancer risk is not associated with increased levels of homozygosity in a population from the United Kingdom
    Sarah L Spain
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    Cancer Res 69:7422-9. 2009
    ..In conclusion, our results from a large case-control series do not replicate those of previous studies and suggest that homozygosity/autozygosity is not a major risk factor for CRC in an outbred population...
  98. ncbi Evidence for the evolutionary nascence of a novel sex determination pathway in honeybees
    Martin Hasselmann
    Department of Genetics, Heinrich Heine University Duesseldorf, Universitaetsstrasse 1, 40225 Duesseldorf, Germany
    Nature 454:519-22. 2008
    ..The fem locus in bees uncovers gene duplication and positive selection as evolutionary mechanisms underlying the origin of a novel sex determination pathway...
  99. ncbi Brain-derived neurotrophic factor val66met polymorphism affects human memory-related hippocampal activity and predicts memory performance
    Ahmad R Hariri
    Clinical Brain Disorders Branch, Intramural Research Program, National Institute of Mental Health, National Institutes of Health, United States Department of Health and Human Services, Bethesda, Maryland 20892 1384, USA
    J Neurosci 23:6690-4. 2003
    ..These data implicate a specific genetic mechanism for substantial normal variation in human declarative memory and suggest that the basic effects of BDNF signaling on hippocampal function in experimental animals are important in humans...
  100. ncbi Glutathione S-transferase M3 (A/A) genotype as a risk factor for oral cancer and leukoplakia among Indian tobacco smokers
    Nilabja Sikdar
    Anthropology and Human Genetics Unit, Biological Sciences Division, Indian Statistical Institute, Kolkata, India
    Int J Cancer 109:95-101. 2004
    ..4; 95% CI = 1.0-5.7). It may be suggested that polymorphisms in GSTP1, GSTM1, GSTM3 and GSTT1 genes regulate risk of cancer and leukoplakia differentially among different tobacco habituals...
  101. pmc Determining the effectiveness of High Resolution Melting analysis for SNP genotyping and mutation scanning at the TP53 locus
    Sonia Garritano
    Department of Biology, Genetics via Derna 1, University of Pisa, Pisa, Italy
    BMC Genet 10:5. 2009
    ..Recently, the use of new fluorescent dyes allowed the high-resolution analysis of DNA melting curves (HRM)...

Research Grants64

  1. Effects of nerve demyelination on auditory synaptic functions
    Jun Hee Kim; Fiscal Year: 2012
    ..and synaptic properties of neural tissue obtained from the LES pups that show a severe behavior phenotype (homozygote) or are normal (heterozygote)...
  2. Genetic determinants of susceptibility to mycobacterial infections
    Philippe Gros; Fiscal Year: 2013
    ..transcription factor IRF8 causes extreme susceptibility to pulmonary tuberculosis in mice, and have identified a homozygote loss-of-function IRF8 mutation in a patient suffering from Mendelian Susceptibility to Mycobacterial Disease (..
  3. Mechanism of Vascular Remodeling in Hyperhomocysteinemia
    Suresh C Tyagi; Fiscal Year: 2010
    ..ciglitazone will be administered to wild type (WT), cystathione (3 synthase (CBS) knockout heterozygote and homozygote (i.e. CBS +/+, CBS - /+ and CBS -/-), PPARy-/+, iNOS-/-, p47-/-, MMP-9-/- and double knockout mice...
  4. FAH-Deficient Pigs
    Scott L Nyberg; Fiscal Year: 2011
    ..1 STTR (R41) application will establish a herd of FAH-deficient pigs and characterize the phenotype of Fah-null homozygote pigs...
  5. Implications of Endothelial-Myocyte Uncoupling in Cardiac Arrhythmia
    Suresh C Tyagi; Fiscal Year: 2010
    ..CBS heterozygote (-/+) knockout (CBSKO) mice will be crossbred with iNOS homozygote (-/-) knockout (iNOSKO) mice, producing wild type (WT), CBSKO, iNOSKO and CBS/iNOS (-/+;-/-) double knockout (..
  6. Ednrb Regulation of Gastrointestinal Motility
    KENT CHARLES WILLIAMS; Fiscal Year: 2013
    ..aims are proposed: Aim 1 will compare the structure and function of the ENS in the small intestine between homozygote, heterozygote, and wildtype Ednrb mouse littermates...
  7. The MTHFR C677T SNP exerts bipolar effects on colorectal cancer risk through the
    Joel B Mason; Fiscal Year: 2010
    ..Far less appreciated are the observations from both pre-clinical and clinical studies that indicate that the homozygote possesses an elevated risk when folate status is low...
  8. Rhodopsin Trafficking and Retinal Degenerations
    Alecia K Gross; Fiscal Year: 2012
    ..proper transport and disk membrane assembly through affinity-capture experiments using retinal extracts from homozygote rhodopsin mutants with defective carboxyl-termini knock-in animals...
  9. BPH AND PROSTATE CA IN 5A-REDUCTASE-2 DEFICIENT CARRIERS
    Julianne Imperato McGinley; Fiscal Year: 2000
    ..largest kindred in the world exists with inherited 5alpha-reductase deficiency, and where the characteristics of homozygote male pseudohermaphrodites with 5alpha- reductase deficiency have been extensively studies by the same principal ..
  10. BONE MARROW TRANSPLANTATION FOR MUCOPOLYSACCHARIDOSIS
    Chester Whitley; Fiscal Year: 1993
    ..lysosomal enzymatic activity will be used to confirm the diagnosis of a specific MPS disease, to determine the homozygote/heterozygote genotype of sibling donors, and to follow the course of engraftment...
  11. A CRYSTALLIN MUTATION WITH ABNORMAL ASTROCYTES AND RETINAL VESSELS
    Debasish Sinha; Fiscal Year: 2010
    ..The mutation behaves as a single semi-dominant locus with a viable homozygote and an intermediate phenotype in the heterozygotes...
  12. Interleukin 1alpha polymorphism and Alzheimer's disease
    Yansheng Du; Fiscal Year: 2004
    ..homozygous for the IL-1A(-889) polymorphism responds to a greater extent than whole blood from a wild type homozygote individual under following stimulation by LPS or Ab for effects on IL-1 a/Beta secretion...
  13. HOMOLOGOUS PREPUBERTAL CANINE GONAD TRANSPLANTATION
    JENNIFER PULLIUM; Fiscal Year: 2007
    ..For both dominant and recessive inherited diseases, affected homozygote animals are normally required for study...
  14. ADRENAL-PANCREAS INTERACTIONS: INTAKE & WEIGHT CONTROL
    THOMAS CASTONGUAY; Fiscal Year: 1993
    ..of corticosterone sufficient to produce Cushing's syndrome in intact Sprague-Dawley as well as heterozygote and homozygote lean Zucker rats will be determined...
  15. Molecular Development of the Endolymphatic Duct and Sac
    Daniel Choo; Fiscal Year: 2005
    ..will test the hypothesis that expression of early molecular markers of the ELDS anlage is down-regulated in homozygote kr embryos at embryonic day 10-11 compared to controls...
  16. TYPE V COLLAGEN AND CORNEAL STROMA
    Sandra Masur; Fiscal Year: 2000
    ..Previous esults showing abnormal corneal stroma development in both homozygote and heterozygote mutants are consistent with this hypothesis...
  17. POLYCYSTIC KIDNEY DISEASE AND MOUSE JCPK/BPK LOCUS
    Lorraine Flaherty; Fiscal Year: 2001
    ..Homozygotes are detectable as early as 4 days and have grossly enlarged kidneys. Histologically, homozygote kidneys are highly abnormal even at birth, with cysts appearing throughout the kidney...
  18. Nutritional mechanisms and intestinal tumorigenesis
    Leonard Augenlicht; Fiscal Year: 2009
    ..few tumors form in p27+/- or p27-/- mice fed chow diet, but tumor formation is significant in the hetero and homozygote null mice fed AIN76A, and for each genotype is greatly increased by a western style defined diet (high in fat ..
  19. EMBRYONIC CORTICAL APOPTOSIS ROLES AND REGULATIONS
    Jerold Chun; Fiscal Year: 2001
    ..are affected in Balb/c and cell death mutant mouse CPP32 +/+ (wild-type) as compared to +/-(heterozygote) and -/(homozygote) embryos (Years 1-3)...
  20. Post-Synaptic Striatal TrkB: Role in the Response to Cocaine
    Michelle Ehrlich; Fiscal Year: 2009
    ..and neuromolecular adaptations to cocaine will be measured in the dorsal and ventral striatum of male, homozygote, non-hypomorphic, floxed trkB/DARPP-32 Cre mice relative to controls...
  21. REGULATION OF SURFACTANT SECRETION IN TYPE II LUNG CELL
    Jeffrey Whitsett; Fiscal Year: 1999
    ..Heterozygote and homozygote mice are being produced by gene ablation...
  22. SERT polymorphisms and human cortical 5-HT2A receptors
    Ronald Cowan; Fiscal Year: 2007
    ..system is actually tri-allelic, with highest levels of in vitro 5-HTT (SERT) expression present in the L-A L-A homozygote. Several reports have identified associations between a given allele pattern and psychiatric conditions, ..
  23. AUTONOMIC INTERACTIONS IN DEVELOPING HEART
    MARGARET KIRBY; Fiscal Year: 2001
    ..Many of these genes have recently been targeted for null mutation in mice. The homozygote Mash-1 mutant mouse has no parasympathetic cardiac innervation, indicating an inability of the cardiac neural ..
  24. GAP JUNCTIONAL COMMUNICATION IN LENS FUNCTION
    Nalin Kumar; Fiscal Year: 2001
    ..Once both knockout animals have been generated, homozygote mice containing knockouts of both a3 and a8 connexin genes will be analyzed...
  25. A Drosophila mutant for MnSOD:its functional role in development and tissue aging
    Amy Belton; Fiscal Year: 2006
    ..enable me to (1) investigate the effect of anti-oxidant activity during development because the severity of the homozygote phenotype seen-death within 24 hours clearly suggest residual effect from development; (2) investigate the ..
  26. Immunoglobulin Allotypes in Hepatitis C Virus Infection
    JANARDAN PANDEY; Fiscal Year: 2008
    ..Results of this investigation will advance our understanding of the role of host genetic factors in clearance and persistence of hepatitis C virus infection. ..
  27. Diet Therapy of Long-Chain Fatty Acid Oxidation Defects
    MELANIE GILLINGHAM; Fiscal Year: 2005
    ..abstract_text> ..
  28. Genetic Associations with Biased Processing of Emotion Cues in MDD
    CHRISTOPHER BEEVERS; Fiscal Year: 2009
    ..Thus, the proposed study should advance our knowledge of the etiological and maintenance processes for MDD and provide specific direction for the design of treatment programs for this serious psychiatric problem. ..
  29. PHARMACOGENETICS OF DRUG AND CARCINOGEN METABOLISM
    David Hein; Fiscal Year: 2009
    ..We also will assess the effect of NAT1 and NAT2 genotypes in breast cancer risk through participation in ongoing molecular epidemiology investigations of breast cancer in Shanghai China and in Nashville, Tennessee. ..
  30. Vaccine therapy of congenital adrenal Hyperplasia
    Scott Rivkees; Fiscal Year: 2003
    ..We also anticipate being able to extend this novel approach to the treatment of other receptor-mediated endocrine disorders, such as hyperthyroidism. ..
  31. The Role of Adenosine in Hypoglycemic Brain Injury
    Scott Rivkees; Fiscal Year: 2003
    ..We anticipate that these studies will yield new insights into the mechanisms of hypoglycemic brain injury and may lead to the development of practical strategies for reducing hypoglycemic brain injury. ..
  32. The genetic basis of type 1 diabetes autoimmunity in African Americans
    Janelle Noble; Fiscal Year: 2008
    ..abstract_text> ..
  33. Gene-nutrient Etiologies of Neural Tube Defects
    Gary M Shaw; Fiscal Year: 2010
    ..Because NTDs result in substantial morbidity as well as high emotional and economic costs, further scientific understanding leading to possible prevention would greatly benefit society. ..
  34. Chemopreventive Actions of Equol Enantiomers
    Kenneth Setchell; Fiscal Year: 2007
    ..These studies are relevant to humans given the ammended health claim for soy and cancer risk-reduction currently being reviewed by the FDA. ..
  35. 14th Internatinal Symposium on Inherited Diseases
    David Whitcomb; Fiscal Year: 2004
    ..The format, venue, and content are designed to maximize participation, education, translation and implementation of the key elements of the many new findings in the genetics of the pancreas. ..
  36. NEURONAL DEGENERATION HEREDITARY CEROID-LIPOFUSCINOSIS
    Martin Katz; Fiscal Year: 2003
    ....
  37. The FIAT-ATF4 interaction and the control of bone mass
    Rene St Arnaud; Fiscal Year: 2010
    ..These experiments will elucidate the molecular mechanisms through which FIAT regulates bone mass accrual in vivo. ..
  38. A Genetic Approach to Virulence in C. albicans
    Suzanne Noble; Fiscal Year: 2007
    ..Results from this work should enhance our understanding of fungal pathogenesis and identify novel targets for antifungal therapy. [unreadable] [unreadable]..
  39. Angiogenesis in the Lung
    Elizabeth Wagner; Fiscal Year: 2010
    ..In an animal model of chronic pulmonary thromboembolic disease, this project will determine the inflammatory cytokines and cells responsible for new vessel growth, and pharmacological and interventional inhibitors. ..
  40. Adenosinergic Mechanisms of Intrauterine Growth Retardation
    Scott A Rivkees; Fiscal Year: 2010
    ..The goals of this proposal are to identify the mechanisms by which adenosine acts to protect the embryo in utero and how altered embryonic adenosine action leads to long-term adverse effects in adulthood. ..
  41. A1-ADENOSINE RECEPTOR ACTION IN HIPPOCAMPUS
    Scott Rivkees; Fiscal Year: 2003
    ..We anticipate these studies will lead to new insights into the mechanisms of A1AR action. We also anticipate that these studies will identify A1ARs as an important regulator of axon growth. ..
  42. LINKING OCCUPATIONAL INJURY AND ILLNESS DATA BASES
    Kenneth Rosenman; Fiscal Year: 2002
    ..We have assembled an interdisciplinary team consisting of an occupational health physician, epidemiologists, a biostatistician and a computer programmer. We have arranged access to all nine data systems. ..
  43. TITINS ROLE IN MODULATING CARDIAC PASSIVE TENSION
    Marion Greaser; Fiscal Year: 2002
    ..Titin changes may be related to the hypertrophic response that commonly is brought about by high blood pressure and thus is a frequent problem in human health. ..
  44. FOLATE PATHWAY GENES AND RISK FOR OROFACIAL CLEFTS
    Gary Shaw; Fiscal Year: 2002
    ..abstract_text> ..
  45. Endothelial Progenitor Cells: Clinical Correlates and Prognosis in the Community
    Thomas Wang; Fiscal Year: 2009
    ..abstract_text> ..
  46. 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. ..
  47. Pulmonary Hypertension and the Hypoxic Response in SCD
    Victor Gordeuk; Fiscal Year: 2008
    ..Aim 3. Using micro array analysis and high throughput genotyping, examine patterns of gene expression and candidate gene polymorphisms of the HIF-mediated hypoxic response in SCD and CP patients with and without PHTN. ..
  48. The Progesterone Receptor Gene and Ovarian Cancer Risk
    CELESTE PEARCE; Fiscal Year: 2005
    ..We will also test our previous two case-control studies for any additional identified SNPs, including 326 cases and 493 controls (many of the SNPs have already been tested in these populations). ..
  49. Mechanisms Relating Conduct Disorder and Drug Abuse
    Robert Miranda; Fiscal Year: 2005
    ..abstract_text> ..
  50. ISOLATION OF THE NEUROBLASTOMA PREDISPOSITION GENE
    John Maris; Fiscal Year: 2006
    ..Ultimately, these experiments should lead to the identification of a common pathway to neuroblastoma tumorigenesis that will be an outstanding target for rationally designed therapeutics. ..
  51. MECHANISMS OF ENZYMIC AND HYDRIDE TRANSFERS
    Gregory Petsko; Fiscal Year: 2006
    ..abstract_text> ..
  52. A System for Rapid PCR, Mutation Scanning and Genotyping
    Carl Wittwer; Fiscal Year: 2006
    ..unreadable] [unreadable]..
  53. GENETICS AND PATHOLOGY OF NON-OBESE DIABETIC (NOD) MICE
    Edward Leiter; Fiscal Year: 2005
    ..These latter investigations are of particular importance in view of an ongoing NIDDK trial to prevent T1D in humans deemed at high risk by oral insulin treatment. ..
  54. A-1 Adenosine Receptor Action in Developing Heart
    Scott Rivkees; Fiscal Year: 2005
    ..We anticipate that these studies will identify Rho and ROCK as critical signaling molecules in heart development and reveal that cardiac GTPase activity transduces the effects of adenosine. ..
  55. Anti-Adenosine Therapy of Neonatal Brain Injury
    Scott Rivkees; Fiscal Year: 2007
    ..It is anticipated that these studies will lead to novel and practical strategies for directly preventing brain injury. [unreadable] [unreadable]..
  56. ROBUST LINKAGE METHODS FOR HUMAN PEDIGREE DATA
    Katrina Goddard; Fiscal Year: 2004
    ..At the end of the project period, a comprehensive set of tools for model-free affected relative pair analysis will be available. ..
  57. Creation of a mouse model of isolated GH deficiency
    Roberto Salvatori; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  58. Pilot for a Multicenter Case-Control Study of Pancreatic Cancer in a High Risk r*
    Paul Brennan; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable] [unreadable] [unreadable] [unreadable] [unreadable] [unreadable] [unreadable] [unreadable] [unreadable] [unreadable] [unreadable] [unreadable] [unreadable] [unreadable] [unreadable] [unreadable]..
  59. MOLECULAR GENETICS OF HEREDITARY PANCREATITIS
    David Whitcomb; Fiscal Year: 2008
    ..The HP and familial pancreatitis studies are especially important because of the statistical power of family studies and the ability to detect modifier genes in a uniform background of susceptibility factors. ..
  60. Consequences of generalized lack of GHRH
    Roberto Salvatori; Fiscal Year: 2005
    ..By recombinase technique, we will generate KO lines with no Neor, avoiding any interference with distant or neighboring genes. In addition, results obtained in the GHRHKO1 line will be confirmed or disproved. ..
  61. Genetic Deafness in the Alumni of Gallaudet University
    Kathleen Arnos; Fiscal Year: 2008
    ..unreadable] [unreadable]..
  62. Genetic modification of PUFA biosynthesis and CHD
    Ana Baylin; Fiscal Year: 2008
    ..This strengthens evaluation of risk, and application to current dietary goals. The large number of SNPs proposed for final analysis will add to the resolution and power to identify the genes that underlie CHD. ..
  63. Molecular Epidemiology of Esophageal Cancer Prognosis
    Geoffrey Liu; Fiscal Year: 2008
    ..Furthermore, the proposed studies address directly a prioritized research area identified by the NCI Stomach and Esophageal Cancers Progress Review Group (Year 2002). ..
  64. Perfusion fMRI of Cue-Induced Nicotine Craving
    Teresa Franklin; Fiscal Year: 2005
    ..Thus, research into its neurological underpinnings is critical in guiding the development of behavioral and pharmacological therapies to battle nicotine addiction. ..