founder effect


Summary: A phenomenon that is observed when a small subgroup of a larger POPULATION establishes itself as a separate and isolated entity. The subgroup's GENE POOL carries only a fraction of the genetic diversity of the parental population resulting in an increased frequency of certain diseases in the subgroup, especially those diseases known to be autosomal recessive.

Top Publications

  1. ncbi Worldwide human relationships inferred from genome-wide patterns of variation
    Jun Z Li
    Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305 5120, USA
    Science 319:1100-4. 2008
  2. pmc Support from the relationship of genetic and geographic distance in human populations for a serial founder effect originating in Africa
    Sohini Ramachandran
    Department of Biological Sciences, Stanford University, Stanford, CA 94305, USA
    Proc Natl Acad Sci U S A 102:15942-7. 2005
  3. pmc Genome-wide association analysis of metabolic traits in a birth cohort from a founder population
    Chiara Sabatti
    Department of Human Genetics and Los Angeles, Los Angeles, California 90095, USA
    Nat Genet 41:35-46. 2009
  4. pmc A major Y-chromosome haplogroup R1b Holocene era founder effect in Central and Western Europe
    Natalie M Myres
    Sorenson Molecular Genealogy Foundation, Salt Lake City, UT, USA
    Eur J Hum Genet 19:95-101. 2011
  5. ncbi C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect
    Antonia Ratti
    Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy
    Neurobiol Aging 33:2528.e7-14. 2012
  6. pmc Nationwide prevalence of sporadic and familial idiopathic pulmonary fibrosis: evidence of founder effect among multiplex families in Finland
    U Hodgson
    Department of Medicine, Division of Pulmonary Medicine, Helsinki University Central Hospital, Helsinki, Finland
    Thorax 57:338-42. 2002
  7. pmc Tracing European founder lineages in the Near Eastern mtDNA pool
    M Richards
    Institute of Molecular Medicine, University of Oxford, Oxford and Department of Biology, University College London, United Kingdom
    Am J Hum Genet 67:1251-76. 2000
  8. ncbi Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects
    L Rodríguez-Pazos
    Department of Dermatology, Faculty of Medicine, Complejo Hospitalario Universitario, SERGAS, 15782 Santiago de Compostela, Spain
    Br J Dermatol 165:906-11. 2011
  9. ncbi Admixed ancestry and stratification of Quebec regional populations
    Claude Bherer
    Centre de recherche du CHU Sainte Justine, Universite de Montreal, Montreal, Quebec, Canada
    Am J Phys Anthropol 144:432-41. 2011
  10. ncbi Evidence for a founder effect after introduction of Tomato yellow leaf curl virus-mild in an insular environment
    Helene Delatte
    CIRAD, UMR C53 PVBMT, CIRAD Université de La Réunion, Pole de protection des plantes, 7 ch de l IRAT, Ligne Paradis, 97410, Saint Pierre, Reunion, France
    J Mol Evol 65:112-8. 2007

Detail Information

Publications251 found, 100 shown here

  1. ncbi Worldwide human relationships inferred from genome-wide patterns of variation
    Jun Z Li
    Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305 5120, USA
    Science 319:1100-4. 2008
    ..The relationship between haplotype heterozygosity and geography was consistent with the hypothesis of a serial founder effect with a single origin in sub-Saharan Africa...
  2. pmc Support from the relationship of genetic and geographic distance in human populations for a serial founder effect originating in Africa
    Sohini Ramachandran
    Department of Biological Sciences, Stanford University, Stanford, CA 94305, USA
    Proc Natl Acad Sci U S A 102:15942-7. 2005
    ..shows that the geographic pattern of heterozygosities in this data set is consistent with a model of a serial founder effect starting at a single origin...
  3. pmc Genome-wide association analysis of metabolic traits in a birth cohort from a founder population
    Chiara Sabatti
    Department of Human Genetics and Los Angeles, Los Angeles, California 90095, USA
    Nat Genet 41:35-46. 2009
    ..The association observed between low-density lipoprotein and an infrequent variant in AR suggests the potential of such a cohort for identifying associations with both common, low-impact and rarer, high-impact quantitative trait loci...
  4. pmc A major Y-chromosome haplogroup R1b Holocene era founder effect in Central and Western Europe
    Natalie M Myres
    Sorenson Molecular Genealogy Foundation, Salt Lake City, UT, USA
    Eur J Hum Genet 19:95-101. 2011
  5. ncbi C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect
    Antonia Ratti
    Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy
    Neurobiol Aging 33:2528.e7-14. 2012
  6. pmc Nationwide prevalence of sporadic and familial idiopathic pulmonary fibrosis: evidence of founder effect among multiplex families in Finland
    U Hodgson
    Department of Medicine, Division of Pulmonary Medicine, Helsinki University Central Hospital, Helsinki, Finland
    Thorax 57:338-42. 2002
    ..The prevalence of sporadic and familial idiopathic pulmonary fibrosis (IPF) cases in Finland was evaluated according to the revised recommendations of the American Thoracic Society...
  7. pmc Tracing European founder lineages in the Near Eastern mtDNA pool
    M Richards
    Institute of Molecular Medicine, University of Oxford, Oxford and Department of Biology, University College London, United Kingdom
    Am J Hum Genet 67:1251-76. 2000
    ..of extant mtDNA lineages entered Europe in several waves during the Upper Palaeolithic, (iii) there was a founder effect or bottleneck associated with the Last Glacial Maximum, 20,000 years ago, from which derives the largest ..
  8. ncbi Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects
    L Rodríguez-Pazos
    Department of Dermatology, Faculty of Medicine, Complejo Hospitalario Universitario, SERGAS, 15782 Santiago de Compostela, Spain
    Br J Dermatol 165:906-11. 2011
    ..Mutations in six genes have been identified in autosomal recessive congenital ichthyosis (ARCI). To date, few studies have analysed the spectrum of these mutations in specific populations...
  9. ncbi Admixed ancestry and stratification of Quebec regional populations
    Claude Bherer
    Centre de recherche du CHU Sainte Justine, Universite de Montreal, Montreal, Quebec, Canada
    Am J Phys Anthropol 144:432-41. 2011
    ..Moreover, our results demonstrate that the study of deep ascending genealogies can accurately reveal population structure...
  10. ncbi Evidence for a founder effect after introduction of Tomato yellow leaf curl virus-mild in an insular environment
    Helene Delatte
    CIRAD, UMR C53 PVBMT, CIRAD Université de La Réunion, Pole de protection des plantes, 7 ch de l IRAT, Ligne Paradis, 97410, Saint Pierre, Reunion, France
    J Mol Evol 65:112-8. 2007
    ..effective size of TYLCV-Mld[RE] has undergone a sudden increase from 2001 to 2004, which is consistent with a founder effect due to the introduction of a small number of virus individuals in an insular environment...
  11. pmc Dual origins of dairy cattle farming--evidence from a comprehensive survey of European Y-chromosomal variation
    Ceiridwen J Edwards
    Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland
    PLoS ONE 6:e15922. 2011
  12. ncbi Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype
    Nancy Braverman
    McKusick Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Hum Mutat 20:284-97. 2002 we described three novel PEX7 mutant alleles, including one, L292X, with a high frequency due to a founder effect. We have now extended our analysis to 60 RCDP probands and identified a total of 24 PEX7 alleles, accounting ..
  13. pmc Effect of variation in CHI3L1 on serum YKL-40 level, risk of asthma, and lung function
    Carole Ober
    University of Chicago, Chicago, IL 60637, USA
    N Engl J Med 358:1682-91. 2008
    ..We hypothesized that single-nucleotide polymorphisms (SNPs) that affect YKL-40 levels also influence asthma status and lung function...
  14. ncbi Genomic and genealogical investigation of the French Canadian founder population structure
    Marie Hélène Roy-Gagnon
    Department of Social and Preventive Medicine, Universite de Montreal, Montreal, QC, Canada
    Hum Genet 129:521-31. 2011
  15. ncbi The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript
    A Vega
    Unidad de Medicina Molecular, INGO-SERGAS, Universidad de Santiago de Compostela, Santiago de Compostela, Spain
    Hum Mutat 17:520-1. 2001
    ..Our results are consistent with the possibility that these families shared a common ancestry with BRCA1 R71G being a founder mutation of Spanish origin...
  16. pmc On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations
    Nancy Hamel
    Program in Cancer Genetics, Department of Oncology, McGill University, Montreal, Quebec, Canada
    Eur J Hum Genet 19:300-6. 2011
  17. ncbi Phonemic diversity supports a serial founder effect model of language expansion from Africa
    Quentin D Atkinson
    Department of Psychology, University of Auckland, Private Bag 92019, Auckland, New Zealand
    Science 332:346-9. 2011
    Human genetic and phenotypic diversity declines with distance from Africa, as predicted by a serial founder effect in which successive population bottlenecks during range expansion progressively reduce diversity, underpinning support for ..
  18. ncbi Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians
    Denise Yan
    Department of Otolaryngology, University of Miami, 1666 NW 12th Avenue, Miami, FL 33136, USA
    Hum Genet 114:44-50. 2003
    ..Similarly, the finding that this mutation appears on a single haplotype provides no support for the possibility that recurrent mutation is the explanation for the high frequency of the allele...
  19. ncbi Population history and its impact on medical genetics in Quebec
    A M Laberge
    Service de Genetique Medicale, Hopital Ste Justine, Montreal, Quebec, Canada
    Clin Genet 68:287-301. 2005
    ..Three genetic diseases of Quebec First Nations children are also discussed: Cree encephalitis (MIM 608505), Cree leukoencephalopathy (MIM 603896) and North American Indian childhood cirrhosis (MIM 604901)...
  20. ncbi Genetic consequences of white-tailed deer (Odocoileus virginianus) restoration in Mississippi
    Randy W DeYoung
    Department of Wildlife and Fisheries, Box 9690, Mississippi State University, MS 39762, USA
    Mol Ecol 12:3237-52. 2003
    ..However, the use of diverse transplant stocks and the varied demographic histories of populations resulted in fine-scale genetic structuring...
  21. pmc mtDNA history of the Cayapa Amerinds of Ecuador: detection of additional founding lineages for the Native American populations
    O Rickards
    Dipartimento di Biologia, Universita di Roma Tor Vergata, Rome Italy
    Am J Hum Genet 65:519-30. 1999
  22. ncbi Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland
    Heidi Fodstad
    Research Program in Molecular Medicine, Biomedicum Helsinki, Finland
    Ann Med 36:53-63. 2004
    ..We had previously identified 14 different LOTS-causing mutations in 92 Finnish families...
  23. ncbi A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews
    I Lerer
    Department of Human Genetic, Hadassah Hebrew University Hospital and Medical School, Jerusalem, Israel
    Hum Mutat 18:460. 2001
  24. pmc BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: an open resource for collaborative research
    Susan L Neuhausen
    Department of Epidemiology, University of California Irvine, Irvine, CA 92697 7550, USA
    Breast Cancer Res Treat 116:379-86. 2009
    ..The value of the resource has been greatly enhanced by determining the germline BRCA1 and BRCA2 mutation statuses of nearly 6,000 probands...
  25. ncbi Founder effect in different European countries for the recurrent P392L SQSTM1 mutation in Paget's Disease of Bone
    Pui Yan Jenny Chung
    Department of Medical Genetics, University and University Hospital of Antwerp, Universiteitsplein 1, 2610, Wilrijk, Belgium
    Calcif Tissue Int 83:34-42. 2008
    ..We investigated whether a founder effect of the P392L SQSTM1 mutation was present in Belgian (n = 233), Dutch (n = 82), and Spanish (n = 64) patients ..
  26. pmc New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish
    Deborah J Morris-Rosendahl
    Institute for Human Genetics, University Clinic Freiburg, Freiburg, Germany
    Eur J Hum Genet 18:1100-6. 2010
    ..Tyr470X), for which a Danish patient was homozygous, occurred on a haplotype that is shared by the unrelated heterozygous parents of the patient. This suggests a possible founder effect for this mutation in the Danish population.
  27. pmc Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation
    Maimoona A Zariwala
    University of North Carolina at Chapel Hill 27599 7248, USA, and Department of Pediatrics and Adolescent Medicine, University Hospital Freiburg, Germany
    Am J Respir Crit Care Med 174:858-66. 2006
    ..Disease-causing mutations have been reported in DNAI1 and DNAH5 encoding outer dynein arm (ODA) proteins of cilia...
  28. ncbi Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect
    Sonia Garritano
    International Agency for Research on Cancer IARC, Lyon, Rhone, France
    Hum Mutat 31:143-50. 2010
    ..1x10(-9), demonstrating a founder effect. Analysis of the patterns of 103 tumors diagnosed in 12 families showed that the presence of p...
  29. ncbi Microsatellite diversity, pedigree relatedness and the contributions of founder lineages to thoroughbred horses
    E P Cunningham
    Department of Genetics, Trinity College, Dublin 2, Ireland
    Anim Genet 32:360-4. 2001
    ..Seventy-eight percent of alleles in the current population are derived from 30 founders, 27 of these male. Ten founder females account for 72% of maternal lineages, while one founder stallion is responsible for 95% of paternal lineages...
  30. ncbi Comprehensive mutational analysis of BRCA1/BRCA2 for Korean breast cancer patients: evidence of a founder mutation
    M W Seong
    Department of Laboratory Medicine, Seoul National University Hospital and Clinical Research Institute, Seoul, Korea
    Clin Genet 76:152-60. 2009
    ..haplotypes using intragenic single nucleotide polymorphisms (SNPs) to investigate the possibility of a founder effect among recurrent mutations. In our series, 38 patients (18...
  31. ncbi Population-based study of changing breast cancer risk in Icelandic BRCA2 mutation carriers, 1920-2000
    Laufey Tryggvadottir
    Icelandic Cancer Registry, Skógarhlío 8, Reykjavik, Iceland
    J Natl Cancer Inst 98:116-22. 2006
    ..We examined the cumulative breast cancer incidence and mortality before age 70 over a diagnosis period of 80 years in Icelandic women who carried the BRCA2 founder mutation 999del5...
  32. ncbi The deletion of exons 3-5 of BRCA1 is the first founder rearrangement identified in breast and/or ovarian cancer Spanish families
    Sarai Palanca
    Laboratorio de Biologia Molecular, Escuela de enfermería 7ª planta, Hospital Universitario La Fe, Avd Campanar 21, 46009, Valencia, Spain
    Fam Cancer 12:119-23. 2013
    ..8097_22733del14637, identified in families of southeastern of the Valencian Community is the first founder rearrangement until now reported in Spanish population, confirming the hypothesis that this mutation could have Iberian ancestry...
  33. ncbi Genetic drift outweighs balancing selection in shaping post-bottleneck major histocompatibility complex variation in New Zealand robins (Petroicidae)
    Hilary C Miller
    Allan Wilson Centre for Molecular Ecology and Evolution, Institute of Molecular Biosciences, Massey University, Private Bag 102904, Auckland, New Zealand
    Mol Ecol 13:3709-21. 2004
    ..However, balancing selection appears to influence MHC diversity over evolutionary timescales, and the effects of gene conversion are evident...
  34. pmc Joint estimates of quantitative trait locus effect and frequency using synthetic recombinant populations of Drosophila melanogaster
    Stuart J Macdonald
    Department of Ecology and Evolutionary Biology, University of California, Irvine, California 92697, USA
    Genetics 176:1261-81. 2007
    ..Models that seek to explain the maintenance of genetic variation make different predictions about the population frequency of QTL alleles. Thus, mapping QTL in eight-way recombinant populations can distinguish between these models...
  35. ncbi Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadian breast/ovarian cancer families
    Helene Vezina
    Interdisciplinary Research Group on Demography and Genetic Epidemiology GRIG, University of Quebec at Chicoutimi, Chicoutimi, Canada, G7H 2B1
    Hum Genet 117:119-32. 2005
    ..This study was designed to analyze the role of this founder effect in the introduction and diffusion of the BRCA1 recurrent R1443X mutant allele...
  36. ncbi Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population
    R Cagliani
    IRCCS E Medea, Associazione La Nostra Famiglia, Via Don Luigi Monza 20, 23842 Bosisio Parini LC, Italy
    Neuromuscul Disord 13:788-95. 2003
    ..The possible existence of a founder effect for the Arg959Trp mutation in the Italian population is discussed.
  37. ncbi [The limited spectrum of pathogenic BRCA1 and BRCA2 mutations in the French Canadian breast and breast-ovarian cancer families, a founder population of Quebec, Canada]
    Patricia N Tonin
    Department of Medicine, McGill University, and The Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada
    Bull Cancer 93:841-6. 2006
  38. ncbi Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda
    Slaheddine Marrakchi
    CHU Heidi Chaker, Department of Dermatology, Sfax, Tunisia
    J Invest Dermatol 120:351-5. 2003
    ..Four ancestral haplotypes were observed in 69 patients from countries around the Mediterranean basin, and an additional haplotype was found in the German and Scottish patients...
  39. ncbi Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population
    Paul A Brink
    Department of Internal Medicine, University of Stellenbosch, South Africa
    Circulation 112:2602-10. 2005
    ..We are investigating one such founder effect, originating in South Africa in approximately ad 1700 and segregating the same KCNQ1 mutation (A341V).
  40. pmc A novel MERTK deletion is a common founder mutation in the Faroe Islands and is responsible for a high proportion of retinitis pigmentosa cases
    Elsebet Ostergaard
    Department of Clinical Genetics 4062, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark
    Mol Vis 17:1485-92. 2011
    ..The aim of the study was to elucidate the genetic background of retinitis pigmentosa (RP) in a Faroe Islands population, a genetic isolate in the North Atlantic Ocean...
  41. pmc Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities
    Cameron M Beech
    Comprehensive Cancer Center, The Ohio State University, Columbus, OH 43210, USA
    Orphanet J Rare Dis 6:74. 2011
    ..We present evidence that this founder mutation causes a substantial percentage of cases among diverse ethnicities and that the mutation is as old as human civilization...
  42. ncbi Founder effects, inbreeding, and loss of genetic diversity in four avian reintroduction programs
    Ian G Jamieson
    Department of Zoology, University of Otago, Dunedin, New Zealand
    Conserv Biol 25:115-23. 2011
  43. ncbi Testing founder effect speciation: divergence population genetics of the spoonbills Platalea regia and Pl. minor (Threskiornithidae, Aves)
    Carol K L Yeung
    Department of Life Science, National Taiwan Normal University, Taipei, Taiwan, ROC
    Mol Biol Evol 28:473-82. 2011
    Although founder effect speciation has been a popular theoretical model for the speciation of geographically isolated taxa, its empirical importance has remained difficult to evaluate due to the intractability of past demography, which in ..
  44. pmc Multiple local and recent founder effects of TGM1 in Spanish families
    Laura Fachal
    Fundación Pública Galega de Medicina Xenómica SERGAS, Grupo de Medicina Xenómica USC, CIBERER, IDIS, Santiago de Compostela, Spain
    PLoS ONE 7:e33580. 2012
    ..Moreover, these mutations were reported only once outside of Galicia, pointing to the existence of historical episodes of local severe genetic drift in this region...
  45. ncbi High frequency of BRCA1 founder mutations in Polish women with nonfamilial breast cancer
    Pawel Gaj
    Department of Gastroenterology and Hepatology, Medical Center for Postgraduate Education, Warsaw, Poland
    Fam Cancer 11:623-8. 2012
    ..185delAG, C5370T, 3875del4, 4153delA) studied in the Masovian voivodeship population confirmed a strong founder effect for BRCA1 mutations in the Polish population, and the results of BRCA2 testing confirmed a high diversity in ..
  46. pmc A population-based study of autosomal-recessive disease-causing mutations in a founder population
    Jessica X Chong
    Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA
    Am J Hum Genet 91:608-20. 2012
  47. ncbi Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies
    Y O Shevchenko
    Genetic Studies Section, Laboratory of Skin Biology, National Institute of Arthritis and Musculoskeletal and Skin Disease, National Institutes of Health, Bethesda, MD 20892 2757, USA
    Hum Genet 106:492-9. 2000
    ..A mutation at this same site occurs in the majority of Norwegian patients as a founder effect. In our ethnically diverse patient population, none of whom have known Norwegian ancestry, haplotype analysis ..
  48. ncbi A newly discovered founder population: the Roma/Gypsies
    Luba Kalaydjieva
    Western Australian Institute for Medical Research and Centre for Medical Research, The University of Western Australia, Nedlands, Perth, Australia
    Bioessays 27:1084-94. 2005
    ..The string of population bottlenecks and founder effects have shaped a unique genetic profile, whose potential for genetic research can be met only by study designs that acknowledge cultural tradition and self-identity...
  49. ncbi Founder effect for a 26-bp deletion in the RFXANK gene in North African major histocompatibility complex class II-deficient patients belonging to complementation group B
    W Wiszniewski
    INSERM U 429, Institut National de la Sante et de la Recherche Medicale, Hopital des Enfants Malades, Paris, France
    Immunogenetics 51:261-7. 2000
    ..All of these patients are of North African origin. A founder effect for this mutation was documented, since all tested patients, except one, display a common haplotype spanning ..
  50. ncbi Genetic factors and the founder effect explain familial MS in Sardinia
    M G Marrosu
    Multiple Sclerosis Center, Department of Neuroscience, Ospedale Binaghi, Cagliari, Italy
    Neurology 58:283-8. 2002
  51. ncbi Fragmentation of the Québec population genetic pool (Canada): evidence from the genetic contribution of founders per region in the 17th and 18th centuries
    A Gagnon
    Programme de Recherches en Démographie Historique PRDH, Département de Démographie, Universite de Montreal, Montreal, Quebec H3C 3J7, Canada
    Am J Phys Anthropol 114:30-41. 2001
    ..a nonuniform distribution of these diseases through the population, suggesting that the French-Canadian founder effect has been geographically stratified...
  52. ncbi Genetic homogeneity of mutational spectrum of group-A xeroderma pigmentosum in Tunisian patients
    Olfa Messaoud
    Molecular Investigation of Genetic Orphan Diseases Research Unit, Pasteur Institute of Tunis, Tunis, Tunisia
    Int J Dermatol 49:544-8. 2010
    ..The aim of this study was to investigate the mutational spectrum of XPA in Tunisia, in order to propose a simple tool for molecular diagnosis...
  53. ncbi Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway
    M Pigg
    Department of Genetics and Pathology, University Hospital, Uppsala, Sweden
    Eur J Hum Genet 6:589-96. 1998
    ..The mutation was previously observed in one family with a resulting cDNA that included the entire intron 5. These results suggest that the mutation can result in variant transcripts in different individuals...
  54. ncbi E109K is a SEC23B founder mutation among Israeli Moroccan Jewish patients with congenital dyserythropoietic anemia type II
    Achiya Amir
    Department of Pediatrics B, Schneider Children s Medical Center of Israel, Sackler Faculty of Medicine, Tel Aviv University, Israel
    Acta Haematol 125:202-7. 2011
    ..Recently, the gene mutated in CDA type II (CDA II), SEC23B, was identified. All Israeli patients with CDA II are of North African (mainly Moroccan) Jewish descent. We investigated the molecular basis of CDA II in those patients...
  55. pmc Diluting the founder effect: cryptic invasions expand a marine invader's range
    Joe Roman
    Department of Organismic and Evolutionary Biology, Harvard University, 26 Oxford Street, Cambridge, MA 02138, USA
    Proc Biol Sci 273:2453-9. 2006
    ..Such gene flow not only increases the likelihood of persistence of invasive species, but it can also rapidly expand the range of long-established nonindigenous species...
  56. ncbi The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4
    R Claramunt
    Instituto de Biomedicina, Consejo Superior de Investigaciones Cientificas, Valencia, Spain
    Clin Genet 71:343-9. 2007
    ..Estimation of the allelic age revealed that the SH3TC2 p.R1109X mutation may have arisen about 225 years ago, probably as the consequence of a bottleneck...
  57. ncbi High frequency and allele-specific differences of BRCA1 founder mutations in breast cancer and ovarian cancer patients from Belarus
    N V Bogdanova
    Clinics of Obstetrics and Gynaecology, Hannover Medical School, Hannover, Germany
    Clin Genet 78:364-72. 2010
  58. pmc Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population
    Belinda K Cornes
    Paediatric Surgery Division, Department of Surgery, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pokfulam, Hong Kong, Special Administrative Region, People s Republic of China
    PLoS ONE 5:e10918. 2010
    ..Due to the high frequency of RET(R114H) in this population, we sought to investigate whether this mutation may be a founder HSCR mutation in the Chinese population...
  59. ncbi Recent demographic bottlenecks are not accompanied by a genetic signature in banner-tailed kangaroo rats (Dipodomys spectabilis)
    Joseph D Busch
    Department of Forestry and Natural Resources, Purdue University, West Lafayette, IN 47907, USA
    Mol Ecol 16:2450-62. 2007
    ..We interpret our kangaroo rat data in light of the broader literature and conclude that in natural populations connected by dispersal, demographic bottlenecks may prove difficult to detect using molecular genetic data...
  60. pmc Mutation history of the roma/gypsies
    Bharti Morar
    Laboratory of Molecular Genetics, Western Australian Institute for Medical Research and UWA Centre for Medical Research, University of Western Australia, Perth, Australia
    Am J Hum Genet 75:596-609. 2004
    ..Sharing of mutations and high carrier rates supported a strong founder effect, and the identity of the congenital myasthenia 1267delG mutation in Gypsy and Indian/Pakistani chromosomes ..
  61. ncbi Molecular evidence for a founder effect in invasive house finch (Carpodacus mexicanus) populations experiencing an emergent disease epidemic
    Dana M Hawley
    Department of Ecology and Evolutionary Biology, Cornell University, Ithaca, New York 14853, USA
    Mol Ecol 15:263-75. 2006
    ..Overall, our results provide compelling molecular evidence for a founder effect during the introduction of eastern house finches that reduced diversity levels at polymorphic microsatellite ..
  62. ncbi Founder mutations among the Dutch
    Maurice P A Zeegers
    Department of Epidemiology, Maastricht University, PO Box 616, 6200 MD, Maastricht, The Netherlands
    Eur J Hum Genet 12:591-600. 2004
    ..These observations demonstrate the opportunity for gene discovery for other diseases and traits in the Netherlands...
  63. pmc Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews
    Y Anikster
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA
    Am J Hum Genet 69:1218-24. 2001
    ..Milder mutations in OPA3 should be sought in patients with optic atrophy with later onset, even in the absence of additional neurological abnormalities...
  64. ncbi Single, rapid coastal settlement of Asia revealed by analysis of complete mitochondrial genomes
    Vincent Macaulay
    Department of Statistics, University of Glasgow, Glasgow G12 8QQ, Scotland, UK
    Science 308:1034-6. 2005
    ..There was an early offshoot, leading ultimately to the settlement of the Near East and Europe, but the main dispersal from India to Australia approximately 65,000 years ago was rapid, most likely taking only a few thousand years...
  65. ncbi The contribution of founder mutations to early-onset breast cancer in French-Canadian women
    P Ghadirian
    Epidemiology Research Unit, Research Centre, Centre Hospitalier de l Universite de Montreal Hotel Dieu, Montreal, Quebec, Canada
    Clin Genet 76:421-6. 2009
    ..It is reasonable to offer screening for founder mutations to all French-Canadian women with breast cancer before age 50. The frequency of these mutations in the general population (0.5%) is too low to advocate population-based screening...
  66. pmc The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool
    Alessandro Achilli
    Dipartimento di Genetica e Microbiologia, Universita di Pavia, Pavia, Italy
    Am J Hum Genet 75:910-8. 2004
    ..The survey revealed that the previously reported excess of H among these families is caused entirely by H3 and is due to a major, probably nonrecent, founder event...
  67. pmc DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss
    Michael S Hildebrand
    Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA
    Hum Mutat 32:825-34. 2011
    ..Collectively, our results indicate that DFNA8/12 hearing loss is a frequent type of ADNSHL...
  68. pmc A serial founder effect model for human settlement out of Africa
    Omkar Deshpande
    Department of Computer Science, Stanford University, Stanford, CA 94305, USA
    Proc Biol Sci 276:291-300. 2009
    ..We discuss a new simulation model for the serial founder effect out of Africa and compare it with results from previous studies...
  69. pmc Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number
    D W Parsons
    Department of Pathology, Ohio State University, Columbus, Ohio, USA
    Am J Hum Genet 63:1712-23. 1998
    ..We note that telSMN missense mutations are associated with milder disease in our patients and that the severe type I SMA phenotype caused by frameshift mutations can be ameliorated by an increase in cenSMN gene copy number...
  70. ncbi Screening for a BRCA2 rearrangement in high-risk breast/ovarian cancer families: evidence for a founder effect and analysis of the associated phenotypes
    Patrícia M Machado
    Molecular Biology Department and Breast Cancer Risk Evaluation Clinic, Instituto Português de Oncologia de Lisboa, Francisco Gentil, Lisboa, Portugal
    J Clin Oncol 25:2027-34. 2007
    ..BRCA2 rearrangements are rare genetic events. A large BRCA2 genomic insertion was recurrently observed in our participants, and we sought to characterize it at the molecular and phenotypic level...
  71. pmc Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect
    R Claramunt
    J Med Genet 42:358-65. 2005
  72. ncbi Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East
    Stephan M Tanner
    Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio 43210, USA
    Hum Mutat 23:327-33. 2004
    ..We suggest that in both regions, physician awareness of this disease causes it to be more readily diagnosed than elsewhere; thus, it may well be more common worldwide than previously thought...
  73. pmc Evidence for a "Founder Effect" among HIV-infected injection drug users (IDUs) in Pakistan
    Mohammad A Rai
    Department of Biological and Biomedical Sciences, Aga Khan University, Karachi, Pakistan
    BMC Infect Dis 10:7. 2010
    ..We have previously reported a HIV-1 subtype A infection in a community of injection drug users (IDUs) in Karachi, Pakistan. We now show that this infection among the IDUs may have originated from a single source...
  74. ncbi Identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the aetiology of retinitis pigmentosa in humans
    M J Nevet
    Department of Genetics and The Rappaport Family Institute for Research in the Medical Sciences, Faculty of Medicine, Technion Israel Institute of Technology, Haifa, Israel
    J Med Genet 47:533-7. 2010
    ..The same homozygous PRCD mutation has been previously identified in a single human RP patient from Bangladesh. To date, this is the only RP-causing mutation of PRCD reported in humans...
  75. ncbi Founder effect in an island population of bighorn sheep
    P W Hedrick
    Department of Biology, Arizona State University, Tempe, AZ 85287, USA
    Mol Ecol 10:851-7. 2001
  76. pmc Evidence for a founder mutation causing DFNA5 hearing loss in East Asians
    Hong Joon Park
    Soree Ear Clinics, Seoul, South Korea
    J Hum Genet 55:59-62. 2010
    ..Our observation raises the possibility that this mutation may be a common cause of autosomal dominant progressive hearing loss in East Asians...
  77. ncbi Inter- and extra-Indian admixture and genetic diversity in reunion island revealed by analysis of mitochondrial DNA
    Vincent Dubut
    Universite Bordeaux 1, CNRS, UMR 5199 PACEA, Laboratoire d Anthropologie des Populations du Passé, Talence, France
    Ann Hum Genet 73:314-34. 2009
    ..Furthermore, we showed that the settlement of Reunion Island by Indians did not involve a founder effect, except in the very beginning of the Reunionese settlement (at the end of the 17(th) century)...
  78. pmc A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment
    L Van Laer
    Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B 2610 Antwerp, Belgium
    J Med Genet 38:515-8. 2001
    ..We report evidence that the high frequency of this allelic variant is the result of a founder effect rather than a mutational hot spot in GJB2, which was the prevailing hypothesis...
  79. pmc Legacy of mutiny on the Bounty: founder effect and admixture on Norfolk Island
    Stuart Macgregor
    Queensland Institute of Medical Research, Brisbane, QLD, Australia
    Eur J Hum Genet 18:67-72. 2010
    ..single large pedigree of 5742 individuals, spanning >200 years, we analyzed the influence of admixture and founder effect on various cardiovascular disease (CVD)-related traits...
  80. ncbi Founder TIGR/myocilin mutations for glaucoma in the Québec population
    Mathieu Faucher
    Molecular Endocrinology and Oncology, Laval University Hospital CHUL Research Center, Quebec City, QC, Canada G1V 4G2
    Hum Mol Genet 11:2077-90. 2002
    ..Our data demonstrated that genetic screening for TIGR/MYOC mutations should be offered to glaucoma families and to close relatives of unrelated patients aware of a family history for the disorder...
  81. pmc Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa
    A J Tipping
    Division of Medical and Molecular Genetics, Guy s, King s, and St Thomas School of Medicine, 8th Floor Guy s Tower, Guy s Hospital, London Bridge, London SE1 9RT, United Kingdom
    Proc Natl Acad Sci U S A 98:5734-9. 2001
    ..FA has a very high incidence in the Afrikaner population of South Africa, possibly due to a founder effect. Previously we observed allelic association between polymorphic markers flanking the FA group A gene (FANCA) ..
  82. pmc Reconstructing the Indian origin and dispersal of the European Roma: a maternal genetic perspective
    Isabel Mendizabal
    Institute of Evolutionary Biology CSIC UPF, CEXS UPF PRBB, Barcelona, Spain
    PLoS ONE 6:e15988. 2011
  83. ncbi History and integrity of thoroughbred dam lines revealed in equine mtDNA variation
    E W Hill
    Department of Genetics, Smurfit Institute of Genetics, Trinity College, Dublin, Ireland
    Anim Genet 33:287-94. 2002
    ..We have used this combination of molecular and historical information to identify some of the founder dams and to make new interpretations about the early history of the thoroughbred...
  84. ncbi A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa
    Nadem Soufir
    Laboratoire de Biochimie hormonale et génétique, Hopital Bichat, APHP, Universite Paris VII, 46 rue Henri Huchard, Paris, France
    J Invest Dermatol 130:1537-42. 2010
    ..1643_1644delTG (p.Val548AlafsX25) in 87% of XP-C patients. Haplotype analysis showed a common founder effect for this mutation in the Mediterranean region, with an estimated age of 50 generations or 1,250 years...
  85. ncbi Strong linkage disequilibrium for the frequent GJB2 35delG mutation in the Greek population
    Haris Kokotas
    Department of Genetics, Institute of Child Health, Athens, Greece
    Am J Med Genet A 146:2879-84. 2008
    ..A strong linkage disequilibrium was found between the 35delG mutation and markers inside or flanking the GJB2 gene. Furthermore, we found a common haplotype with a previous study, suggesting a common founder for the 35delG mutation...
  86. ncbi Contribution of CYP1B1 mutations and founder effect to primary congenital glaucoma in Mexico
    Juan Carlos Zenteno
    Department of Genetics Research Unit, Institute of Ophthalmology Conde de Valenciana, Mexico City, Mexico
    J Glaucoma 17:189-92. 2008
    ..In this work, the molecular analysis of the CYP1B1 gene in a group of Mexican PCG patients is reported...
  87. ncbi Detection of the founder effect in Finnish CADASIL families
    Kati Mykkänen
    Department of Medical Genetics, University of Turku, Kiinamyllynkatu 10, FIN 20520 Turku, Finland
    Eur J Hum Genet 12:813-9. 2004
    ..Most of the families carrying this mutation originate from the western coast of Finland, thus suggesting a founder effect. No previous reports of a founder effect in CADASIL have been published...
  88. pmc Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect
    Linda L Bachinski
    Section of Cancer Genetics, Department of Molecular Genetics, University of Texas M D Anderson Cancer Center, Houston, TX 77030, USA
    Am J Hum Genet 73:835-48. 2003
    ..Taken together, these data suggest a single founding mutation in DM2 patients of European origin. We estimate the age of the founding haplotype and of the DM2 (CCTG) expansion mutation to be approximately 200-540 generations...
  89. ncbi The contribution of founder mutations in BRCA1 to breast and ovarian cancer in Lithuania
    P Elsakov
    Institute of Oncology, Vilnius University, Vilnius, Lithuania
    Clin Genet 78:373-6. 2010
  90. ncbi Genetic variation increases during biological invasion by a Cuban lizard
    Jason J Kolbe
    Department of Biology, Campus Box 1137, Washington University, Saint Louis, Missouri 63130 4899, USA
    Nature 431:177-81. 2004
    ..If these costs are to be mitigated, a greater understanding of the causes, progression and consequences of biological invasions is needed...
  91. ncbi The Norwegian founder mutations in BRCA1: high penetrance confirmed in an incident cancer series and differences observed in the risk of ovarian cancer
    K Heimdal
    Section of Genetic Counseling, Department of Cancer Genetics, Norwegian Radium Hospital, N 0310 Oslo, Norway
    Eur J Cancer 39:2205-13. 2003
    ..This may be due to methodological differences, but may reflect differences between mutations and/or modifying factors in different populations...
  92. ncbi Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of myocilin
    Paul N Baird
    Centre for Eye Research Australia, University of Melbourne, 32 Gisborne Street, East Melbourne, Victoria 3002, Australia
    Hum Genet 112:110-6. 2003
    ..These findings indicate that the Q368STOP mutation in all 15 families shared a common origin prior to the European settlement of Australia in the early 1800s...
  93. ncbi Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects
    Orland Diez
    Servei de Genètica, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
    Hum Mutat 22:301-12. 2003
    ..Knowledge of the spectrum of mutations and their geographical distribution in Spain will allow a more effective detection strategy in countries with large Spanish populations...
  94. pmc Founder mutations in xeroderma pigmentosum
    Deborah Tamura
    Dermatology Branch, National Cancer Institute, Bethesda, MD 20892, USA
    J Invest Dermatol 130:1491-3. 2010
    ..These patients have a high frequency of skin cancer. The presence of this founder mutation provides an opportunity for genetic counseling and early diagnosis of XP...
  95. ncbi Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin
    Sylvain Hanein
    Unité de Recherches sur les Handicaps Génétiques de l Enfant Hôpital Necker Enfants Malades, 149 rue de Sevres, 75743 Paris Cedex 15, France
    Hum Mutat 20:322-3. 2002
    ..nonsense mutation in three unrelated and non-consanguineous LCA families of Finnish origin, suggesting a founder effect. Interestingly, no linkage desequilibrium was found using polymorphic markers flanking the RETGC1 gene, ..
  96. ncbi Inferences on population history of a seed chalcid wasp: invasion success despite a severe founder effect from an unexpected source population
    M A Auger-Rozenberg
    INRA, UR633 Unité de Recherche de Zoologie Forestière, 2163 Avenue de la Pomme de Pin CS 40001 Ardon, F 45075, Orleans, Cedex 2, France
    Mol Ecol 21:6086-103. 2012
    ..atlantica. Evolutionary hypotheses are discussed to account for this unlikely scenario...
  97. ncbi A founding LRRK2 haplotype shared by Tunisian, US, European and Middle Eastern families with Parkinson's disease
    L Warren
    Research and Development, GlaxoSmithKline Pharmaceuticals, Research Triangle Park, NC 27709, USA
    Parkinsonism Relat Disord 14:77-80. 2008
    ..The most recent common founder of the mutation was dated to 2600 (95% CI: 1950-3850) years ago although additional studies are warranted to ensure an accurate age estimate for this mutation...
  98. ncbi Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method: a study of 38 British Isles pedigrees
    M Votruba
    Department of Molecular Genetics, Institute of Ophthalmology, London, UK
    Hum Genet 102:79-86. 1998
    ..test, likelihood ratio test (LRT) and P values] and haplotype parsimony analysis showed evidence of a founder effect in 36 of the 38 pedigrees. Six markers (D3S3669, D3S1523, D3S3642, D3S2305, D3S3590 and D3S3562), spanning 1...
  99. ncbi Hypothesizing an ancient Greek origin of the GJB2 35delG mutation: can science meet history?
    Haris Kokotas
    Department of Genetics, Institute of Child Health, Aghia Sophia Children s Hospital, Athens, Greece
    Genet Test Mol Biomarkers 14:183-7. 2010
    ..was so far between the arguments whether or not the 35delG mutation constitutes a mutational hot-spot or a founder effect; however, it was recently clarified that the latter seems the most likely...
  100. ncbi Recurrent BRCA1 and BRCA2 germline mutations in ovarian cancer: a founder mutation of BRCA1 identified in the Chinese population
    Ui Soon Khoo
    Department of Pathology, Queen Mary Hospital, The University of Hong Kong, Hong Kong
    Hum Mutat 19:307-8. 2002 two unrelated individuals with shared haplotype as revealed by allelotype analysis, thus demonstrating founder effect. Two other recurrent mutations were also identified, the 2371-2372delTG mutation in BRCA1 and the 3337C>T ..
  101. ncbi Interaction between founder effect and selection during biological invasion in an aquatic plant
    Agnes Kliber
    Department of Biology, Queen s University Kingston, Ontario K7L 3N6 Canada
    Evolution 59:1900-13. 2005
    ..This result is consistent with severe founder effect. Because sex creates genotypic variation and produces offspring with greater dispersal potential than those ..

Research Grants63

  1. The Metabolic Impact of Congenital Heterozygous ApoC-III Deficiency in Humans
    TONI ILANA POLLIN; Fiscal Year: 2013
    ..rare or absent in the general population but has reached a relatively high prevalence in the Amish by a founder effect. While these recent findings strongly implicate direct apoC- III lowering as a promising therapeutic ..
    Daniel Geschwind; Fiscal Year: 1999
    ..a small region of County Cork, Ireland, that is shared by these families is striking and may reflect a genetic founder effect. Candidate genes and chromosomal regions will be tested for linkage to left-handedness using polymorphic DNA ..
    Nicholas Barden; Fiscal Year: 1991
    ..These large families, because of genetic homogeneity and a founder effect, greatly increase the chance and discriminatory factor for finding linkage between genetic markers and bipolar ..
    Richard Lifton; Fiscal Year: 2002
    ..In Hispanic Americans, particularly Mexican Americans, the disease is nearly always related to a founder effect as shown by haplotype analysis...
    Edward Patterson; Fiscal Year: 2004
    ..Patterson will have fully developed into an independent investigator who can bridge the gap from characterizing clinical inherited neuromuscular disorders to identifying the causative molecular pathobiology. ..
  6. Genetics of cardiovascular risk factors in large founder population birth control
    Leena Peltonen; Fiscal Year: 2009
    ..The NFBC is drawn from a population that combines a significant founder effect and subsequent isolation with a Western life style and comprehensive health care system with excellent ..
    Guy Rouleau; Fiscal Year: 2001 map the gene (or genes) that predispose to familial RLS using subjects from a homogeneous population with a founder effect where RLS prevalence rates have been shown to be increased...
  8. Molecular Characterization of Cayman Ataxia, ATCAY
    Margit Burmeister; Fiscal Year: 2007
    ..Ataxia is a recessive ataxia found so far exclusively on one region of Grand Cayman island where it arose by founder effect. Cayman Ataxia patients show severe truncal ataxia, ocular movement abnormalities, and mental retardation...
    Richard Spritz; Fiscal Year: 2002
    ..recessive disorder which is quite common (1/200) on Isla Margarita in the Caribbean, probably as result of a founder effect from one of the original Spanish settlers...
  10. Genetic Discrimination Knowledge in Primary Care
    Jeffrey Weitzel; Fiscal Year: 2004
    ..Because genetic testing for hereditary cancer represents a new paradigm for predictive genetic testing in other adult onset disorders, the results of the proposed study will potentially have broad-based implications. ..
    Jeffrey Weitzel; Fiscal Year: 2005
    ..abstract_text> ..
    Henry Lynch; Fiscal Year: 2004
  13. Experimental Therapeutics of Neuromuscular Disease
    ROBERT GRIGGS; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable] [unreadable]..
  14. Associating genetic variation to resistance to severe malaria in East Africa
    David Reich; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  15. Genetic Components of Autism Spectrum Disorders
    Linda Brzustowicz; Fiscal Year: 2007
    ..abstract_text> ..
  16. Screening Small Molecules for Rescue of Peroxisome Assembly Defects
    Steven Steinberg; Fiscal Year: 2007
    ..Identified compounds will be tested in cell lines from patients with other known defects to determine broad applicability. Ultimately these drugs could be developed for patient use. [unreadable] [unreadable] [unreadable]..
  17. DBS Effects on Mood and Cognition in Parkinsons Disease
    Michael Okun; Fiscal Year: 2007
    ..This proposal includes active and experienced mentoring, access to diverse resources, and a scientific environment suited specifically for the development of the PI as an independent physician scientist. ..
  18. Mucosal and Peripheral NK-T Cells in HIV Infection
    Otto Yang; Fiscal Year: 2007
    ..Exploring NK-T cells in HIV-1 infection could there have a high impact on the development of new strategies in prevention and treatment. [unreadable] [unreadable]..
  19. Gene Expression Phenotype in Autosomal Recessive Disease
    Vivian Cheung; Fiscal Year: 2007
    ..The approach can also be broadened to study the contribution of heterozygosity of recessive diseases to the complex genetic architecture of human diseases and traits. [unreadable] [unreadable]..
  20. Genetic Determinants of Bipolar Disorder
    Vishwajit Nimgaonkar; Fiscal Year: 2007
    ..An important dividend of this large study will be the expansion of the repository to include DNA data on relatives and on an independent sample of controls, thus facilitating future genetic studies. ..
    Vishwajit Nimgaonkar; Fiscal Year: 2007
    ..This is a competing supplement for MH 56242, 'Genetic Susceptibility in Schizophrenia'. [unreadable] [unreadable] [unreadable]..
  22. Genome-wide analysis of genetic variation and expression.
    Vivian G Cheung; Fiscal Year: 2010
    ..Therefore, the molecular and analytical approaches developed here can be generalized and applied to the study of other quantitative traits in humans, including complex genetic diseases. ..
  23. Molecular Genetics of Schizophrenia Susceptibility
    Linda Brzustowicz; Fiscal Year: 2008
    ..We anticipate that these methods will be of future use for finding additional susceptibility genes for schizophrenia and other complex disorders. ..
  24. The Molecular Basis of Infantile Neuroaxonal Dystrophy
    Susan Hayflick; Fiscal Year: 2008
    ..abstract_text> ..
  25. A Whole Genome Admixture Scan for Multiple Sclerosis
    David Reich; Fiscal Year: 2008
    ..We will then move to a targeted haplotype-based association study in the most interesting regions to clone new genes associated with MS. ..
  26. Genome-Wide Association Studies of Asthma in Populations of African Descent
    Kathleen Barnes; Fiscal Year: 2008
    ..Findings from this study will provide a better understanding of the complex pathways related to risk of asthma and associated phenotypes. [unreadable] [unreadable] [unreadable]..
    Kathleen Barnes; Fiscal Year: 2008
    ..We hope that with the data to be generated, we will positively impact the health of urban US populations who are disproportionally suffering from asthma morbidity and mortality. ..
  28. Dichlorphenamide vs Acetazolamide for Periodic Paralysis
    Robert C Griggs; Fiscal Year: 2010
    ..abstract_text> ..
  29. Mechanisms of Hypertension-induced Renal Injury
    Allen W Cowley; Fiscal Year: 2010
    ..An understanding of these mechanisms could lead to new therapeutic approaches for the prevention of kidney disease in hypertension. ..
  30. Novel Genetic Risk Factors for Alzheimer's Disease (AD) & Frontotemporal Dementia
    Daniel Geschwind; Fiscal Year: 2009
    ..abstract_text> ..
  31. Novel Designs and Outcome Measures for Bench to Bedside Research on NMD
    ROBERT GRIGGS; Fiscal Year: 2007
    ..In this effort to provide new treatments for neuromuscular disease, this conference will help to further public health goals. [unreadable] [unreadable] [unreadable]..
  32. SiRNA Gene Therapy for HIV/AIDS
    Ramesh Akkina; Fiscal Year: 2008
    ..4. Transduce siRNA constructs into the newly described CD34+/KDR+ primitive hematopoietic progenitor cells and derive macrophages in vitro and thymocytes in vivo, and evaluate their HIV-1 resistance. [unreadable] [unreadable]..
  33. Modulators of Nitric Oxide Synthase Activity in Sickle Cell Disease
    Mary E Fabry; Fiscal Year: 2010
    ..These observations may be applicable to patient interventions. ..
  34. The Molecular Basis of Syndromic Retinitis Pigmentosa
    Susan Hayflick; Fiscal Year: 2007
    ..abstract_text> ..
  35. Genetic Studies of Immune Responsiveness to Cockroach
    Kathleen Barnes; Fiscal Year: 2007
    ..We will also examine the interactive effect of current cockroach allergen exposure and susceptibility loci associated with asthma severity. ..
  36. A Universal Env Immunogen for all HIV-1 Subtypes
    Feng Gao; Fiscal Year: 2004
    ..Results from this study will determine if con/con Env protein can serve as a universal immunogen for all HIV-1 subtypes and will be used as a guideline to design broadly reactive immunization strategies. ..
  37. Igf2r Tumor Suppression in Igf2 and TGFa Transgenic Mice
    DIMITRINA PRAVTCHEVA; Fiscal Year: 2004
    ..The combined results from these experiments will help evaluate the effectiveness of IGF2R as a tumor suppressor and its potential usefulness for gene therapy of human tumors. ..
    Daniel Geschwind; Fiscal Year: 2004
    ..Physical mapping and candidate screening for mutations will be pursued as the region is narrowed to identify the IBGC gene. A genome scan will be performed in families who are not linked to the chr.14 locus. ..
  39. Immunogenicity of an HIV virus-like particle vaccine
    Feng Gao; Fiscal Year: 2004
    ..abstract_text> ..
  40. The Course and Social Context of Depressive Symptoms
    LIANNE KURINA; Fiscal Year: 2003
    ..The specific aims will be addressed with secondary analyses of longitudinal data from the Health and Retirement Study (HRS). ..
    Daniel Geschwind; Fiscal Year: 2003
    ..abstract_text> ..
    Vishwajit Nimgaonkar; Fiscal Year: 2002
    ..Such information, in conjunction with non-genetic risk factors may help identify individuals at increased risk and thus enable prevention. ..
    Fergus Couch; Fiscal Year: 2002
    Vivian Cheung; Fiscal Year: 2002
    ..In the process of characterizing the clones, we will also get information that gives us insight into the concordance rate between RH map, genome sequence map and cytogenetic map. ..
  45. Joint and Muscle Dysfunction of Temporomandibular Joint
    Allen Cowley; Fiscal Year: 2002
  46. ANALYZE: Software for Joint Linkage and LD Analysis
    Joseph Terwilliger; Fiscal Year: 2005
    ..These programs will be distributed as part of the expanded ANALYZE software package to be developed in this proposed project. ..
  47. Pleiotropic and epistatic effects in sickle cell anemia
    RONALD NAGEL; Fiscal Year: 2005
    ..Our institution has well established expertise in transgenic mice, microcirculatory preparations, hemopoiesis and patient follow-up, as a well as experienced SNP, sequencing and CHIP expression facilities. ..
  48. Plan forTrial to find Optimum Steroid Regimen in Duchenne Muscular Dystrophy
    ROBERT GRIGGS; Fiscal Year: 2006
  49. Genetic Analysis of Tau H1 in Parkinsonism
    Matthew Farrer; Fiscal Year: 2006
    ..abstract_text> ..
  50. A Genomewide Search for Autism Susceptibilty Loci
    Daniel Geschwind; Fiscal Year: 2006
    ..All phenotypic and genotype data will be made accessible via the Internet on a rolling basis, further enhancing the value of this resource to the community. ..
    RONALD NAGEL; Fiscal Year: 2006
    ..Trainees will be exposed to more than one senior faculty member. In summary, this research group has a strong training record, a long history of mutual interactions, and is devoted to "orphan maladies"...
  52. Modeling RNA-based HIV gene therapeutics in SCID-hu mice
    Ramesh Akkina; Fiscal Year: 2006
    ..4) Determine the engraftment and thymopoietic potential of lentivirally transduced primitive hematopoietic precursor cells i.e., a) CD34+ and KDR+ cells, b) SP cells in the SCID-hu mouse thymic microenvironment. ..
  53. Identification of targets of FoxP2 in the brain
    Daniel Geschwind; Fiscal Year: 2006
    ..This proposal has a strong screening component in an area where no molecular mechanisms have been identified and fits well within the R21 framework. ..
  54. Novel treatment for muscle disease: Fueling the pipeline and finding the product
    ROBERT GRIGGS; Fiscal Year: 2006
    ..unreadable] [unreadable] [unreadable]..
  55. Mapping a Gene for Parkinsons Disease in Norway
    Matthew Farrer; Fiscal Year: 2005
    ..We will explore the utility of haplotype tagging (htSNPs) to capture disease-association (Aim 3). Identification of the PD-susceptibility gene will be confirmed in US samples and functionally assessed. ..
  56. A Systems Approach to the Understanding of TMJ as a Complex Disease
    Allen Cowley; Fiscal Year: 2006
    ..abstract_text> ..
  57. Schizophrenia Liability Genes among African-Americans
    Vishwajit Nimgaonkar; Fiscal Year: 2006
    ..Finally, we have an outstanding track record of African American participation in research studies, and a deep appreciation of their population genetics. ..
  58. Integrative genetic approaches to Atherosclerosis
    Aldons Jake Lusis; Fiscal Year: 2010
    ..In Aim 3 we utilize a series of transgenic/knockout models to test the role of genes at the locus and to validate findings from Aims 1 and 2. ..
  59. Genetic Analysis of the Diabetes-Prone C57BLKS Strain
    Aldons Lusis; Fiscal Year: 2009
    ..The results will provide an enhanced understanding of the mechanisms of obesity-induced diabetes. ..
  60. Identification and Functional Assessment of Autism Susceptibility Genes
    Linda Brzustowicz; Fiscal Year: 2009
    ..These accomplishments will lead to important translational research so that better diagnoses, treatments and preventions can be developed for ASD. ..
  61. Can Studies of Co-Morbidities with TMJDs Reveal Common Mechanisms of Disease?
    Allen Cowley; Fiscal Year: 2008
    ..A major goal of this meeting is to identify common therapeutic targets related to shared co-morbidities. [unreadable] [unreadable] [unreadable]..
  62. Advancing Diagnostic Approaches for TMJ Disorders
    Allen Cowley; Fiscal Year: 2004
    ..abstract_text> ..