inheritance patterns

Summary

Summary: The different ways GENES and their ALLELES interact during the transmission of genetic traits that effect the outcome of GENE EXPRESSION.

Top Publications

  1. ncbi A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p
    Myrto Papaioannou
    Department of Molecular Genetics, Institute of Ophthalmology, UCL, 11 43 Bath Street, London, EC1V 9EL, UK
    Hum Genet 118:501-3. 2005
  2. ncbi Transgenerational epigenetic inheritance: prevalence, mechanisms, and implications for the study of heredity and evolution
    Eva Jablonka
    The Cohn Institute for the History and Philosophy of Science and Ideas, Tel Aviv University, Tel Aviv 69978, Israel
    Q Rev Biol 84:131-76. 2009
  3. pmc Telomere length is paternally inherited and is associated with parental lifespan
    Omer T Njajou
    Department of Medicine and Institute of Human Genetics, University of California, San Francisco, CA 94143, USA
    Proc Natl Acad Sci U S A 104:12135-9. 2007
  4. pmc Overdominant quantitative trait loci for yield and fitness in tomato
    Yaniv Semel
    Institute of Plant Sciences and Genetics, Faculty of Agriculture, Hebrew University of Jerusalem, P O Box 12, Rehovot 76100, Israel
    Proc Natl Acad Sci U S A 103:12981-6. 2006
  5. ncbi Testing marker-based estimates of heritability in the wild
    David W Coltman
    Department of Biological Sciences, University of Alberta, Edmonton, AB T6G 2E9, Canada
    Mol Ecol 14:2593-9. 2005
  6. pmc Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders
    Christian Rödelsperger
    Institute for Medical and Human Genetics, Berlin
    Bioinformatics 27:829-36. 2011
  7. pmc The Collaborative Cross at Oak Ridge National Laboratory: developing a powerful resource for systems genetics
    Elissa J Chesler
    Systems Genetics Group, Biosciences Division, Oak Ridge National Laboratory, Bldg 1059 MS 6420, P O Box 2008, Oak Ridge, TN 37831 6420, USA
    Mamm Genome 19:382-9. 2008
  8. ncbi Effects of genetic drift on variance components under a general model of epistasis
    N H Barton
    Institute of Cell, Animal and Population Biology, University of Edinburgh, EH9 3JT, United Kingdom
    Evolution 58:2111-32. 2004
  9. pmc Strong purifying selection in transmission of mammalian mitochondrial DNA
    James Bruce Stewart
    Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden
    PLoS Biol 6:e10. 2008
  10. pmc Doubly uniparental inheritance of mitochondria as a model system for studying germ line formation
    Liliana Milani
    Department of Biologia Evoluzionistica Sperimentale, University of Bologna, Bologna, Italy
    PLoS ONE 6:e28194. 2011

Detail Information

Publications231 found, 100 shown here

  1. ncbi A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p
    Myrto Papaioannou
    Department of Molecular Genetics, Institute of Ophthalmology, UCL, 11 43 Bath Street, London, EC1V 9EL, UK
    Hum Genet 118:501-3. 2005
    ..3 at recombination fraction theta=0). The linked region is flanked by markers D9S285 and D9S1874, corresponding to a genetic distance of 31 cM, in the region 9p22-p13...
  2. ncbi Transgenerational epigenetic inheritance: prevalence, mechanisms, and implications for the study of heredity and evolution
    Eva Jablonka
    The Cohn Institute for the History and Philosophy of Science and Ideas, Tel Aviv University, Tel Aviv 69978, Israel
    Q Rev Biol 84:131-76. 2009
    ....
  3. pmc Telomere length is paternally inherited and is associated with parental lifespan
    Omer T Njajou
    Department of Medicine and Institute of Human Genetics, University of California, San Francisco, CA 94143, USA
    Proc Natl Acad Sci U S A 104:12135-9. 2007
    ..Our data, which are based on one of the largest family studies of human TL, support a link between TL and aging and lifespan and suggest a strong genetic influence, possibly via an imprinting mechanism, on TL regulation...
  4. pmc Overdominant quantitative trait loci for yield and fitness in tomato
    Yaniv Semel
    Institute of Plant Sciences and Genetics, Faculty of Agriculture, Hebrew University of Jerusalem, P O Box 12, Rehovot 76100, Israel
    Proc Natl Acad Sci U S A 103:12981-6. 2006
    ..We propose that the alliance of ODO QTL with higher reproductive fitness was selected for in evolution and was domesticated by man to improve yields of crop plants...
  5. ncbi Testing marker-based estimates of heritability in the wild
    David W Coltman
    Department of Biological Sciences, University of Alberta, Edmonton, AB T6G 2E9, Canada
    Mol Ecol 14:2593-9. 2005
    ..The high degree of uncertainty in marker-based estimates suggests that the method may be sufficient to detect the presence of genetic variance for highly heritable traits, but not sufficiently reliable to estimate genetic parameters...
  6. pmc Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders
    Christian Rödelsperger
    Institute for Medical and Human Genetics, Berlin
    Bioinformatics 27:829-36. 2011
    ..Although databases such as dbSNP or HapMap can be used to reduce the plethora of candidate genes by filtering out common variants, the remaining set of genes still remains on the order of dozens...
  7. pmc The Collaborative Cross at Oak Ridge National Laboratory: developing a powerful resource for systems genetics
    Elissa J Chesler
    Systems Genetics Group, Biosciences Division, Oak Ridge National Laboratory, Bldg 1059 MS 6420, P O Box 2008, Oak Ridge, TN 37831 6420, USA
    Mamm Genome 19:382-9. 2008
    ..Herein we present a progress report of the Collaborative Cross breeding program at ORNL and a description of the kinds of investigations that this resource will support...
  8. ncbi Effects of genetic drift on variance components under a general model of epistasis
    N H Barton
    Institute of Cell, Animal and Population Biology, University of Edinburgh, EH9 3JT, United Kingdom
    Evolution 58:2111-32. 2004
    ..Although our analyses clarify the conditions under which drift is expected to increase V(A), we question the evolutionary importance of such increases...
  9. pmc Strong purifying selection in transmission of mammalian mitochondrial DNA
    James Bruce Stewart
    Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden
    PLoS Biol 6:e10. 2008
    ....
  10. pmc Doubly uniparental inheritance of mitochondria as a model system for studying germ line formation
    Liliana Milani
    Department of Biologia Evoluzionistica Sperimentale, University of Bologna, Bologna, Italy
    PLoS ONE 6:e28194. 2011
    ..During male embryo development, spermatozoon mitochondria aggregate in proximity of the first cleavage furrow and end up in the primordial germ cells, while they are dispersed in female embryos...
  11. pmc Comparative mitochondrial genomics of freshwater mussels (Bivalvia: Unionoida) with doubly uniparental inheritance of mtDNA: gender-specific open reading frames and putative origins of replication
    Sophie Breton
    Department of Biological Sciences, Kent State University, Kent, Ohio 44242, USA
    Genetics 183:1575-89. 2009
    ..We propose that unassigned regions are the most promising candidate sequences in which to find regulatory and/or gender-specific sequences that could determine whether a mitochondrial genome will be maternally or paternally transmitted...
  12. pmc Investigating the contribution of common genetic variants to the risk and pathogenesis of ADHD
    Evangelia Stergiakouli
    MRC Centre in Neuropsychiatric Genetics and Genomics, Cardiff University School of Medicine, Cardiff, Wales
    Am J Psychiatry 169:186-94. 2012
    ..The authors undertook a GWAS of ADHD and examined whether associated SNPs, including those below conventional levels of significance, influenced the same biological pathways affected by CNVs...
  13. ncbi Heritable alteration in DNA methylation induced by nitrogen-deficiency stress accompanies enhanced tolerance by progenies to the stress in rice (Oryza sativa L.)
    H P Kou
    Key Laboratory of Molecular Epigenetics of MOE and Institute of Genetics and Cytology, Northeast Normal University, Changchun 130024, China
    J Plant Physiol 168:1685-93. 2011
    ....
  14. pmc Mitochondrial genomes and Doubly Uniparental Inheritance: new insights from Musculista senhousia sex-linked mitochondrial DNAs (Bivalvia Mytilidae)
    Marco Passamonti
    Department of Biologia Evoluzionistica Sperimentale, University of Bologna, Bologna, Italy
    BMC Genomics 12:442. 2011
    ..Recently, new evidence for DUI was found in the mytilid bivalve Musculista senhousia. This paper describes the complete sex-linked mitochondrial genomes of this species...
  15. pmc Global eQTL mapping reveals the complex genetic architecture of transcript-level variation in Arabidopsis
    Marilyn A L West
    Department of Plant Sciences, University of California, Davis, California 95616 8780, USA
    Genetics 175:1441-50. 2007
    ..It reveals that the genetic control of transcript level is highly variable and multifaceted and that this complexity may be a general characteristic of eukaryotes...
  16. ncbi Epigenetics as a unifying principle in the aetiology of complex traits and diseases
    Arturas Petronis
    The Krembil Family Epigenetics Laboratory, Centre for Addiction and Mental Health, 250 College Street, Toronto, Ontario M5T 1R8, Canada
    Nature 465:721-7. 2010
    ..Epigenetics can provide a new framework for the search of aetiological factors in complex traits and diseases...
  17. pmc The polymorphism architecture of mouse genetic resources elucidated using genome-wide resequencing data: implications for QTL discovery and systems genetics
    Adam Roberts
    Department of Computer Science, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, 27599, USA
    Mamm Genome 18:473-81. 2007
    ..We conclude that the CC represents a dramatic improvement over existing genetic resources for mammalian systems biology applications...
  18. ncbi Strong association of de novo copy number mutations with sporadic schizophrenia
    Bin Xu
    Department of Physiology and Cellular Biophysics, Columbia University, New York, New York 10032, USA
    Nat Genet 40:880-5. 2008
    ....
  19. ncbi Timescales of genetic and epigenetic inheritance
    Oliver J Rando
    Department of Biochemistry and Molecular Pharmacology, University of Massachusetts Medical School, Worcester, MA 01605, USA
    Cell 128:655-68. 2007
    ..Although these observations do not undermine Darwin's theory, they suggest that selection and variability are less independent than once thought...
  20. pmc Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease
    Anne Sophie Jannot
    INSERM U 781, AP HP Hôpital Necker Enfants Malades, Paris, France
    Eur J Hum Genet 20:917-20. 2012
    ..This allows us to conclude that the explanation for this parental asymmetry is that more severe mutations have resulted in a differential reproductive rate between male and female carriers...
  21. ncbi Inherited epigenetic variation--revisiting soft inheritance
    Eric J Richards
    Department of Biology, Washington University, 1 Brookings Drive, St Louis, Missouri 63130, USA
    Nat Rev Genet 7:395-401. 2006
    ..Should the existence of inherited epigenetic variation alter our thinking about evolutionary change?..
  22. ncbi Intralocus sexual conflict and the genetic architecture of sexually dimorphic traits in Prochyliza xanthostoma (Diptera: Piophilidae)
    Russell Bonduriansky
    Department of Zoology, University of Toronto, Toronto, Ontario M5S 3G5, Canada
    Evolution 59:1965-75. 2005
    ..Our results support theory and suggest that intralocus sexual conflict can be resolved substantially by genomic adaptation. Further work is required to identify the proximate mechanisms underlying these patterns...
  23. pmc Three epigenetic information channels and their different roles in evolution
    N Shea
    Faculty of Philosophy and Somerville College, University of Oxford, Oxford, UK
    J Evol Biol 24:1178-87. 2011
    ....
  24. ncbi Protean phenotypic features of the A3243G mitochondrial DNA mutation
    Petra Kaufmann
    Department of Neurology, The Neurological Institute, Columbia University Medical Center, New York, NY 10032, USA
    Arch Neurol 66:85-91. 2009
    ....
  25. ncbi Understanding transgenerational epigenetic inheritance via the gametes in mammals
    Lucia Daxinger
    Queensland Institute of Medical Research, Herston, Queensland 4006, Australia
    Nat Rev Genet 13:153-62. 2012
    ..Interestingly, many cases of epigenetic inheritance seem to involve repeat sequences...
  26. pmc Paternal leakage and heteroplasmy of mitochondrial genomes in Silene vulgaris: evidence from experimental crosses
    Kerin E Bentley
    Department of Biological Sciences, Vanderbilt University, Nashville, Tennessee 37235, USA
    Genetics 185:961-8. 2010
    ..vulgaris and with regard to the potential impact of mitochondrial paternal leakage and heteroplasmy on both the evolution of the mitochondrial genome and the evolution of gynodioecy...
  27. ncbi Stress-induced DNA methylation changes and their heritability in asexual dandelions
    Koen J F Verhoeven
    Department of Terrestrial Ecology, Netherlands Institute of Ecology NIOO KNAW, Heteren, The Netherlands
    New Phytol 185:1108-18. 2010
    ..This highlights the potential of epigenetic inheritance to play an independent role in evolutionary processes, which is superimposed on the system of genetic inheritance...
  28. pmc Previous estimates of mitochondrial DNA mutation level variance did not account for sampling error: comparing the mtDNA genetic bottleneck in mice and humans
    Passorn Wonnapinij
    Center of Human Genetics Research, Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, TN 37232, USA
    Am J Hum Genet 86:540-50. 2010
    ..Our results show that variance measurements based on fewer than 20 measurements are generally unreliable and ideally more than 50 measurements are required to reliably compare variances with less than a 2-fold difference...
  29. ncbi Corn hybrids display lower metabolite variability and complex metabolite inheritance patterns
    Jan Lisec
    Max Planck Institute of Molecular Plant Physiology, Am Muhlenberg 1, 14476 Potsdam, Germany
    Plant J 68:326-36. 2011
    ..Deviations of metabolite levels from the average levels of the hybrids correlate negatively with biomass, which could be applied for developing predictors of hybrid performance based on characteristics of metabolite patterns...
  30. pmc A transmission disequilibrium test for general pedigrees that is robust to the presence of random genotyping errors and any number of untyped parents
    Derek Gordon
    Laboratory of Statistical Genetics, Rockefeller University, Box 192, 1230 York Avenue, New York, NY 10021, USA
    Eur J Hum Genet 12:752-61. 2004
    ..5 x 10(-9) for the marker locus nearest to the sitosterolemia disease genes. We have developed software to perform TDT(ae) calculations, which may be accessed from our ftp site...
  31. ncbi Widespread mito-nuclear discordance with evidence for introgressive hybridization and selective sweeps in Lycaeides
    Zachariah Gompert
    Department of Biology, Population and Conservation Biology Program, Texas State University, San Marcos, TX 78666, USA
    Mol Ecol 17:5231-44. 2008
    ....
  32. pmc Quantitative trait loci mapping reveals candidate pathways regulating cell cycle duration in Plasmodium falciparum
    Heather B Reilly Ayala
    Life Sciences, Bethel College, 1001 Bethel Circle, Mishawaka, IN 46545, USA
    BMC Genomics 11:577. 2010
    ....
  33. ncbi Prevalence of mitochondrial DNA disease in adults
    Andrew M Schaefer
    Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, Newcastle University, Newcastle upon Tyne, United Kingdom
    Ann Neurol 63:35-9. 2008
    ..Consequently, the aim of this study was to accurately define the prevalence of mtDNA disease (primary mutation occurs in mtDNA) in the working-age population of the North East of England...
  34. pmc Statistical inference in mixed models and analysis of twin and family data
    XueQin Wang
    Department of Statistics, School of Mathematics and Computational Science, Sun Yat Sen University, Guangzhou, 510275, China
    Biometrics 67:987-95. 2011
    ..Finally, we applied our method and theory to provide a more precise estimate of the heritability of two data sets than the previously reported estimate...
  35. pmc The hitchhiking effect of an autosomal meiotic drive gene
    Luis Miguel Chevin
    UMR de Génétique Végétale du Moulon, INRA Université Paris XI CNRS INA P G, 91190 Gif sur Yvette, France
    Genetics 173:1829-32. 2006
    ..We study this hitchhiking effect in the case of true meiotic drive in autosomes and show that it is more dependent on the recombination rate than in the classical case of a gene positively selected at the organism level...
  36. ncbi Maternal inheritance of plastids and mitochondria in Cycas L. (Cycadaceae)
    Zhi Rong Zhong
    Laboratory of Southern Subtropical Plant Diversity, Fairy Lake Botanical Garden, Shenzhen and Chinese Academy of Sciences, Shenzhen, 518004, China
    Mol Genet Genomics 286:411-6. 2011
    ..In conclusion, these data suggest that the maternal plastid and mitochondrial inheritance in Cycas, native to the old world, are the same as seen in seed plants...
  37. pmc Segregation models for disomic, tetrasomic and intermediate inheritance in tetraploids: a general procedure applied to Rorippa (yellow cress) microsatellite data
    Marc Stift
    Experimental Plant Systematics, Institute for Biodiversity and Ecosystem Dynamics, University of Amsterdam, 1090 GB Amsterdam, The Netherlands
    Genetics 179:2113-23. 2008
    ..Methods that have been developed for either disomic or tetrasomic tetraploids may not be generally applicable, particularly in systems where hybridization is common...
  38. pmc Genetic dissection of maize phenology using an intraspecific introgression library
    Silvio Salvi
    Department of Agroenvironmental Sciences and Technologies, University of Bologna, Viale Fanin 44, 40127 Bologna, Italy
    BMC Plant Biol 11:4. 2011
    ....
  39. ncbi Brief communication: Familial resemblance in digit ratio (2D:4D)
    Martin Voracek
    Department of Basic Psychological Research, School of Psychology, University of Vienna, Vienna A 1010, Austria
    Am J Phys Anthropol 140:376-80. 2009
    ..2D:4D was particularly strongly heritable through male lines (father-son and brother-brother correlations), thus raising the possibility that Y-linked genes (such as the sex-determining region SRY) might influence 2D:4D expression...
  40. ncbi Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling
    Valerie Pelletier
    Unité de Recherches Génétique et Epigénétique des Maladies Métaboliques, Neurosensorielles et du Développement, Institut Nationale de la Santé et de la Recherche Médicale INSERM U781, Hopital Necker Enfants Malades, Paris, France
    Hum Mutat 28:81-91. 2007
    ....
  41. pmc Marker-based quantitative genetics in the wild?: the heritability and genetic correlation of chemical defenses in eucalyptus
    R L Andrew
    School of Botany and Zoology, Australian National University, Daley Road, Canberra, ACT 0200, Australia
    Genetics 171:1989-98. 2005
    ..We suggest that this method will prove to be a useful tool in other studies and offer some recommendations for future applications of the method...
  42. pmc Ontogenetic de novo copy number variations (CNVs) as a source of genetic individuality: studies on two families with MZD twins for schizophrenia
    Sujit Maiti
    Molecular Genetics Unit, Department of Biology, The University of Western Ontario, London, Ontario, Canada
    PLoS ONE 6:e17125. 2011
    ..The results argue for enduring genome-wide changes during cellular transmission, often ignored in most genetic analyses...
  43. ncbi Inheritance of a cancer-associated MLH1 germ-line epimutation
    Megan P Hitchins
    Department of Medical Oncology, St Vincent s Hospital, Sydney, Australia
    N Engl J Med 356:697-705. 2007
    ..These findings demonstrate a novel pattern of inheritance of cancer susceptibility and are consistent with transgenerational epigenetic inheritance...
  44. ncbi Segregation of sperm mitochondria in two- and four-cell embryos of the blue mussel Mytilus edulis: Implications for the mechanism of doubly uniparental inheritance of mitochondrial DNA
    Andrew T Cogswell
    Fisheries and Oceans Canada, Bedford Institute of Oceanography, Ecosystem Research Division, Dartmouth, NS, Canada
    Genome 49:799-807. 2006
    ....
  45. pmc Differential parental transmission of markers in RUNX2 among cleft case-parent trios from four populations
    Jae Woong Sull
    Johns Hopkins Bloomberg School of Public Health, Johns Hopkins University, 615 North Wolfe Street, Baltimore, MD 21205, USA
    Genet Epidemiol 32:505-12. 2008
    ..Thus, RUNX2 appears to influence risk of CL/P through a parent-of-origin effect with excess maternal transmission...
  46. ncbi Genetics of quantitative traits in Arabidopsis thaliana
    M J Kearsey
    School of Biosciences, The University of Birmingham, Birmingham, B15 2TT, UK
    Heredity (Edinb) 91:456-64. 2003
    ..The possible involvement of other interacting height QTL is discussed...
  47. pmc Is evolution Darwinian or/and Lamarckian?
    Eugene V Koonin
    National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD 20894, USA
    Biol Direct 4:42. 2009
    ..In contrast, Darwin assigned a greater importance to random, undirected change that provided material for natural selection...
  48. pmc Evidence for maternally transmitted small interfering RNA in the repression of transposition in Drosophila virilis
    Justin P Blumenstiel
    Department of Organismic and Evolutionary Biology, Harvard University, Cambridge, MA 02138, USA
    Proc Natl Acad Sci U S A 102:15965-70. 2005
    ..virilis. We also present evidence that the maternal inheritance of these endogenous siRNAs may contribute to maternal repression of Penelope...
  49. pmc Moving toward a system genetics view of disease
    Solveig K Sieberts
    Rosetta Inpharmatics, LLC, 401 Terry Avenue N, Seattle, Washington 98109, USA
    Mamm Genome 18:389-401. 2007
    ....
  50. pmc Retention of gene products in syncytial spermatids promotes non-Mendelian inheritance as revealed by the t complex responder
    Nathalie Véron
    Department of Developmental Genetics, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany
    Genes Dev 23:2705-10. 2009
    ..The wild-type allele of Tcr, sperm motility kinase-1 (Smok1), behaves in the same manner, suggesting that Tcr/Smok reveal a common mechanism prone to evolve non-Mendelian inheritance in mammals...
  51. ncbi Inheritance in tetraploid yeast revisited: segregation patterns and statistical power under different inheritance models
    M Stift
    Division of Ecology and Evolutionary Biology, University of Glasgow, Glasgow G12 8QQ, UK
    J Evol Biol 23:1570-8. 2010
    ..The possibility of tetrad analysis in tetraploid yeast offers a valuable opportunity to improve our understanding of meiosis and inheritance of tetraploids...
  52. pmc Genome-wide discovery of loci influencing chemotherapy cytotoxicity
    James W Watters
    Department of Medicine, Siteman Cancer Center, Washington University School of Medicine, 660 South Euclid Avenue, Campus Box 8069, St Louis, MO 63110, USA
    Proc Natl Acad Sci U S A 101:11809-14. 2004
    ....
  53. pmc Transgenerational epigenetic inheritance: more questions than answers
    Lucia Daxinger
    Epigenetics Laboratory, Queensland Institute of Medical Research, Herston, Brisbane, Queensland, Australia
    Genome Res 20:1623-8. 2010
    ....
  54. pmc The genetic architecture of fitness in a seed beetle: assessing the potential for indirect genetic benefits of female choice
    T Bilde
    Animal Ecology Department of Ecology and Evolution, Evolutionary Biology Centre, University of Uppsala, Uppsala SE 753 32, Sweden
    BMC Evol Biol 8:295. 2008
    ..From reciprocal crosses of inbred lines, we assayed egg production, egg-to-adult survival, and lifetime offspring production of the outbred F1 daughters (F1 productivity)...
  55. ncbi Practice Parameter: evaluation of distal symmetric polyneuropathy: role of laboratory and genetic testing (an evidence-based review). Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and Am
    J D England
    American Academy of Neurology, St Paul, MN 55116, USA
    Neurology 72:185-92. 2009
    ..Since the evaluation of this disorder is not standardized, the available literature was reviewed to provide evidence-based guidelines regarding the role of laboratory and genetic tests for the assessment of DSP...
  56. ncbi A genetic mouse model to investigate hyperoxic acute lung injury survival
    Daniel R Prows
    Department of Pediatrics, University of Cincinnati College of Medicine, Children s Hospital Medical Center, Cincinnati, Ohio 45229 3039, USA
    Physiol Genomics 30:262-70. 2007
    ..HALI survival is multigenic with a complex mode of inheritance, which should be amenable to genetic dissection with this mouse model...
  57. ncbi Mitochondrial heteroplasmy and paternal leakage in natural populations of Silene vulgaris, a gynodioecious plant
    Stephanie A Pearl
    Department of Biological Sciences, Vanderbilt University, Nashville, TN, USA
    Mol Biol Evol 26:537-45. 2009
    ..Knowledge of the dynamics of mitochondrial populations within individuals plays an important role in understanding the evolution of gynodioecy, and we discuss our findings within this context...
  58. ncbi Practice parameter: the evaluation of distal symmetric polyneuropathy: the role of laboratory and genetic testing (an evidence-based review). Report of the American Academy of Neurology, the American Association of Neuromuscular and Electrodiagnostic Medi
    J D England
    Louisiana State University Health Sciences Center, New Orleans, USA
    PM R 1:5-13. 2009
    ..Since the evaluation of this disorder is not standardized, the available literature was reviewed to provide evidence-based guidelines regarding the role of laboratory and genetic tests for the assessment of DSP...
  59. ncbi Complete maternal inheritance of bifenazate resistance in Tetranychus urticae Koch (Acari: Tetranychidae) and its implications in mode of action considerations
    Thomas Van Leeuwen
    Laboratory of Agrozoology, Department of Crop Protection, Faculty of Bioscience Engineering, Ghent University, Coupure Links 653, 9000 Ghent, Belgium
    Insect Biochem Mol Biol 36:869-77. 2006
    ..The obtained results suggest a target-site other than GABA-gated chloride channels, most likely encoded by and located in the mitochondria...
  60. pmc The evolution of sex-specific grandparental harm
    William R Rice
    Department of Ecology, Evolution and Marine Biology, University of California, Santa Barbara, CA 93106, USA
    Proc Biol Sci 277:2727-35. 2010
    ..We conclude that SA-zygotic drive is plausibly operating in humans via sexually antagonistic grandparental care...
  61. pmc Genetic and environmental influences on infant weight and weight change: the Fels Longitudinal Study
    Ellen W Demerath
    Lifespan Health Research Center, Wright State University School of Medicine, Dayton, Ohio 45420 4014, USA
    Am J Hum Biol 19:692-702. 2007
    ..Understanding genetic influences on growth rate in a well-nourished, nutritionally stable population may help us interpret the causes and consequences of centile crossing in nutritionally compromised contexts...
  62. ncbi Exceptional paternal inheritance of plastids in Arabidopsis suggests that low-frequency leakage of plastids via pollen may be universal in plants
    Arun K Azhagiri
    Waksman Institute, Rutgers, The State University of New Jersey, 190 Frelinghuysen Road, Piscataway, NJ 08854 8020, USA
    Plant J 52:817-23. 2007
    ..The genetic tools employed here will facilitate testing the effect of Arabidopsis nuclear mutations on plastid inheritance and allow for the design of mutant screens to identify nuclear genes controlling plastid inheritance...
  63. pmc A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
    Andrew J Sharp
    Department of Genome Sciences, University of Washington School of Medicine, 1705 NE Pacific St, Seattle, Washington 98195, USA
    Nat Genet 40:322-8. 2008
    ..The frequency of these microdeletions in mental retardation cases is approximately 0.3% (6/2,082 tested), a prevalence comparable to that of Williams, Angelman and Prader-Willi syndromes...
  64. pmc An unusual case of gender-associated mitochondrial DNA heteroplasmy: the mytilid Musculista senhousia (Mollusca Bivalvia)
    Marco Passamonti
    Department of Biologia Evoluzionistica Sperimentale, University of Bologna, Bologna, I 40126, Italy
    BMC Evol Biol 7:S7. 2007
    ..DUI systems represent a unique experimental model for testing the evolutionary mechanisms that apply to mitochondrial genomes and their transmission patterns as well as to mtDNA recombination...
  65. ncbi Allele-specific relative telomere lengths are inherited
    Jesper Graakjaer
    Telomeres and Cancer Lab, UMR7147, CNRS I, Curie UPMC, Paris, France
    Hum Genet 119:344-50. 2006
    ..16; P=0.195). This study indicates that, even though there is a telomerase-mediated maintenance/elongation of telomeres in germ cells, allele-specific relative telomere lengths are preserved in the next generation...
  66. ncbi Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes
    Zhishuo Ou
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genet Med 10:267-77. 2008
    ..To date, only a small number of patients with 22q11.2 microduplication have been identified...
  67. pmc Accounting for relatedness in family based genetic association studies
    P F McArdle
    Department of Epidemiology and Preventive Medicine, University of Maryland School of Medicine, Baltimore, MD 21201, USA
    Hum Hered 64:234-42. 2007
    ..Assess the differences in point estimates, power and type 1 error rates when accounting for and ignoring family structure in genetic tests of association...
  68. ncbi Complex genetic architecture of population differences in adult lifespan of a beetle: nonadditive inheritance, gender differences, body size and a large maternal effect
    C W Fox
    Department of Entomology, Agricultural Science Center North, University of Kentucky, Lexington, KY 40546, USA
    J Evol Biol 17:1007-17. 2004
    ..The detection of epistasis, dominance, and sex-specific genetic effects on C. maculatus lifespan is consistent with results from line cross and quantitative trait locus studies of D. melanogaster...
  69. pmc Extreme primary and secondary protein structure variability in the chimeric male-transmitted cytochrome c oxidase subunit II protein in freshwater mussels: evidence for an elevated amino acid substitution rate in the face of domain-specific purifying sele
    Eric G Chapman
    Department of Biological Sciences, Kent State University, Kent, OH 44242, USA
    BMC Evol Biol 8:165. 2008
    ..Additionally, male unionoidean bivalves have a approximately 550 bp 3' coding extension to the cox2 gene (Mcox2e), that is apparently absent from all other metazoan taxa...
  70. pmc Inheritance of vertebral number in the three-spined stickleback (Gasterosteus aculeatus)
    Jussi S Alho
    Ecological Genetics Research Unit, Department of Biosciences, University of Helsinki, Helsinki, Finland
    PLoS ONE 6:e19579. 2011
    ..In the case of the three-spined stickleback, independent evolution of body size and number of vertebrae should be possible given the low genetic correlation between the two traits...
  71. ncbi Incapacitating the evolutionary capacitor: Hsp90 modulation of disease
    Patricia L Yeyati
    Medical Research Council Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh, UK
    Curr Opin Genet Dev 18:264-72. 2008
    ..There is, therefore, a strong environmentally elicited link between the capacity to reveal hidden variation as human disease phenotype and as novel morphological forms for evolutionary selection...
  72. ncbi Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84
    Hashem Shahin
    Department of Life Sciences, Bethlehem University, Bethlehem, Palestinian National Authority
    J Med Genet 47:643-5. 2010
    ..5 MB homozygous haplotype on chromosome 12q21 with lod score 4.30. This homozygous region harbours the protein tyrosine phosphatase receptor Q gene PTPRQ, which is known to be essential to hearing in mouse...
  73. ncbi Inheritance patterns, consanguinity & risk for asthma
    Bijanzadeh Mahdi
    Department of Studies in Zoology, University of Mysore, J S S Medical College, J S S Hospital, Mysore, India
    Indian J Med Res 132:48-55. 2010
    ..there is paucity of data on asthma inheritance in Indian population, the present study was undertaken to investigate the inheritance patterns of asthma and the effect of family history and consanguineous marriage on asthma inheritance.
  74. ncbi Viability effects and not meoitic drive cause dramatic departures from Mendelian inheritance for malic enzyme in hybrids of Tigriopus californicus populations
    C S Willett
    Department of Biology, University of North Carolina, Chapel Hill, Chapel Hill, NC, USA
    J Evol Biol 20:1196-205. 2007
    ..These results imply that selection against deleterious gene combinations and not aberrant segregation (i.e. meiotic drive) is likely to lead to dramatic departures from Mendelian inheritance observed in these crosses...
  75. ncbi A simple and robust TDT-type test against genotyping error with error rates varying across families
    K F Cheng
    Biostatistics Center and Department of Public Health, China Medical University, Taichung, Taiwan ROC
    Hum Hered 64:114-22. 2007
    ..Simulation studies confirm that the new test has very reasonable performance...
  76. pmc Genetic biases for showy males: are some genetic systems especially conducive to sexual selection?
    Hudson Kern Reeve
    Department of Neurobiology and Behavior, Cornell University, Ithaca, NY 14853, USA
    Proc Natl Acad Sci U S A 100:1089-94. 2003
    ..Thus, taxonomic biases for showy males may stem from differences in sex chromosome systems...
  77. ncbi Pedigree analysis of constitutional delay of growth and maturation: determination of familial aggregation and inheritance patterns
    Ines L Sedlmeyer
    Department of Medicine, Children s Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA
    J Clin Endocrinol Metab 87:5581-6. 2002
    ..9, respectively; estimated relative risk for second-degree relatives were 3.2 and 4.4, respectively. Inheritance patterns varied, but many families showed an apparent autosomal dominant pattern, with or without incomplete ..
  78. ncbi Effects of cytoplasmic genes on sperm viability and sperm morphology in a seed beetle: implications for sperm competition theory?
    D K Dowling
    Animal Ecology Department of Ecology and Evolution, Evolutionary Biology Centre, Uppsala University, Uppsala, Sweden
    J Evol Biol 20:358-68. 2007
    ..We discuss some potential implications of these findings for sperm competition theory...
  79. ncbi Frequency of LRRK2 mutations in early- and late-onset Parkinson disease
    L N Clark
    Taub Institute for Research on Alzheimer s Disease and the Aging Brain, Columbia University, P and S Building, 14 434, 630 West 168th Street, New York, NY 10032, USA
    Neurology 67:1786-91. 2006
    ..To evaluate the frequency of leucine-rich repeat kinase gene (LRRK2) mutations and single nucleotide polymorphisms (SNPs) in early-onset Parkinson disease (EOPD) and late-onset Parkinson disease (LOPD)...
  80. ncbi Evidence for vertical inheritance and loss of the leukotoxin operon in genus Mannheimia
    Jesper Larsen
    Department of Veterinary Pathobiology, Faculty of Life Sciences, University of Copenhagen, Stigbøjlen, Frederiksberg C, Denmark
    J Mol Evol 64:423-37. 2007
    ..On the other hand, it indicates that losses of the leukotoxin operons in the radiating lineages of M. ruminalis have catalyzed their adaptation to a commensal environment and reproductive isolation (speciation)...
  81. ncbi Multiple-breed genetic inference using heavy-tailed structural models for heterogeneous residual variances
    F F Cardoso
    EMBRAPA Pecuária Sul Brazilian Agricultural Research Corporation Southern Cattle and Sheep Center, Bage, RS 96401 970, Brazil
    J Anim Sci 83:1766-79. 2005
    ....
  82. pmc Hypothesis for heritable, anti-viral immunity in crustaceans and insects
    Timothy W Flegel
    Center of Excellence for Shrimp Molecular Biology and Biotechnology Centex Shrimp, Mahidol University, Rama 6 Road, Bangkok 10400, Thailand
    Biol Direct 4:32. 2009
    ..However, recent developments suggest that specific responses may be based on viral sequences inserted into the host genome...
  83. pmc Cortical, but not posterior subcapsular, cataract shows significant familial aggregation in an older population after adjustment for possible shared environmental factors
    Nathan Congdon
    The Johns Hopkins University Schools of Medicine and Public Health, Baltimore, Maryland, USA
    Ophthalmology 112:73-7. 2005
    ..To quantify the risk for age-related cortical cataract and posterior subcapsular cataract (PSC) associated with having an affected sibling after adjusting for known environmental and personal risk factors...
  84. pmc Inheritance patterns of progressive hearing loss in laboratory strains of mice
    Konrad Noben-Trauth
    Section on Neurogenetics, NIDCD, National Institutes of Health, 5 Research Court, Rockville, MD 20850 3227, USA
    Brain Res 1277:42-51. 2009
    ..Here we review hearing loss inheritance patterns as they were discovered in different strains of mice and discuss the relevance of candidate genes to late-..
  85. pmc Multiple rare variants in the etiology of autism spectrum disorders
    Joseph D Buxbaum
    Laboratory of Molecular Neuropsychiatry, Seaver Autism Center for Research and Treatment, Department of Psychiatry, Mount Sinai School of Medicine, New York, NY 10029, USA
    Dialogues Clin Neurosci 11:35-43. 2009
    ..In the current review we will overview the evidence for a genetic etiology for ASDs, and summarize recent genetic findings in these disorders...
  86. ncbi Transgenic rice expressing Allium sativum leaf lectin with enhanced resistance against sap-sucking insect pests
    Prasenjit Saha
    Plant Molecular and Cellular Genetics, Bose Institute, P1 12 C I T Scheme VII M, 700054 Kolkata, India
    Planta 223:1329-43. 2006
    ..Analysis of T1 progenies confirmed the inheritance of the transgenes. Thus, ASAL promises to be a potential component in insect resistance rice breeding programme...
  87. ncbi The origin and evolution of mosquito APE retroposons
    James L Crainey
    School of Biological Sciences, Queen Mary, University of London, London, United Kingdom
    Mol Biol Evol 22:2190-7. 2005
    ..The absence of positive results therefore supports the view that retroposon horizontal transfer does not occur or is far more exceptional than for other types of transposable elements...
  88. ncbi Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3-p21.2 between D1S2896 and D1S457 but outside ABCA4
    Qingjiong Zhang
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Building 10, Room 10B10, 10 Center Drive, MSC 1860, Bethesda, MD, 20892 1860, USA
    Hum Genet 118:356-65. 2005
    ..This novel locus lies approximately 4.9 cM (7.1 Mbp) from ABCA4, which is excluded from the linked region. Identification and study of this gene may help to elucidate the phenotypic diversity of arRP mapping to this region...
  89. ncbi Evidence for paternal transmission and heteroplasmy in the mitochondrial genome of Silene vulgaris, a gynodioecious plant
    D E McCauley
    Department of Biological Sciences, Vanderbilt University, Nashville, TN 37235, USA
    Heredity (Edinb) 95:50-8. 2005
    ....
  90. ncbi Genetic architecture of population differences in oviposition behaviour of the seed beetle Callosobruchus maculatus
    C W Fox
    Department of Entomology, S 225 Agricultural Science Center North, University of Kentucky, Lexington, KY 40546, USA
    J Evol Biol 17:1141-51. 2004
    ....
  91. ncbi Evaluation of distal symmetric polyneuropathy: the role of laboratory and genetic testing (an evidence-based review)
    J D England
    Louisiana State University Health Sciences Center, Baton Rouge, Louisiana, USA
    Muscle Nerve 39:116-25. 2009
    ..There is insufficient evidence to determine the usefulness of routine genetic testing in patients with cryptogenic polyneuropathy who do not exhibit a hereditary neuropathy phenotype (Level U)...
  92. pmc Mitochondrial mRNA polymorphisms in different Arabidopsis accessions
    Joachim Forner
    Institut Molekulare Botanik, Universitat Ulm, Ulm, Germany
    Plant Physiol 148:1106-16. 2008
    ..These variations can now be used to identify the nuclear genes responsible, as well as the mitochondrial cis-elements required, for 5' end generation of mitochondrial transcripts...
  93. ncbi Molecular criteria for determining new hybrid species--an application to the Sonneratia hybrids
    Renchao Zhou
    State Key Laboratory of Biocontrol and Key Laboratory of Gene Engineering of the Ministry of Education, Zhongshan University, Guangzhou 510275, People s Republic of China
    Mol Phylogenet Evol 35:595-601. 2005
    ..Thus, S. x gulngai and S. x hainanensis are not true hybrid species. The segregation patterns of molecular markers should be heeded in interpreting the existence of hybrid species...
  94. ncbi Late-onset hereditary axonal neuropathies
    C L Bennett
    Department of Pediatrics, University of Washington Medical School, Children s Hospital and Regional Medical Center, Seattle, WA, USA
    Neurology 71:14-20. 2008
    ..Onset is usually in childhood, adolescence, or young adulthood. The objective of this study was to define late-onset forms of the disorder...
  95. doi Genetic testing for the spastic paraplegias: drowning by numbers
    Alexandra Durr
    Neurology 71:236-8. 2008
  96. doi Corticobasal syndrome and primary progressive aphasia as manifestations of lrrk2 gene mutations
    Owen A Ross
    Neurology 71:303; author reply 303-4. 2008
  97. ncbi A novel in-frame deletion in the CAV3 gene in a Korean patient with rippling muscle disease
    Jong Seok Bae
    Department of Neurology, Inje University, College of Medicine, Busan, Republic of Korea
    J Neurol Sci 260:275-8. 2007
    ..307_312delGTGGTG; Phe103_Phe104del). Further analysis of his family members showed that his mother and elder sister also have the same mutation. To the best of our knowledge, this is the first report of genetically confirmed RMD in Korea...
  98. ncbi A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21
    G Stevanin
    INSERM U679, Federative Institute for Neuroscience Research IFR70, Pitie Salpetriere Hospital, Paris, France
    Neurology 68:1837-40. 2007
    ..We have mapped the disease locus SPG32 to chromosome 14q12-q21 within a 30-cM interval, which excludes the atlastin gene...
  99. ncbi A study of LRRK2 mutations and Parkinson's disease in Brazil
    Márcia Mattos Gonçalves Pimentel
    Serviço de Genética Humana, Departamento de Biologia Celular e Genetica, Instituto de Biologia Roberto Alcantara Gomes, Universidade do Estado do Rio de Janeiro, RJ, Brazil
    Neurosci Lett 433:17-21. 2008
    ..G2019S. Our findings suggest that the LRRK2 p.G2019S mutation has a substantial contribution to PD susceptibility among Brazilian population and add new clues to current research of this disease...
  100. ncbi Homoplasmy, heteroplasmy, and mitochondrial dystonia
    R McFarland
    Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, University of Newcastle upon Tyne, Newcastle upon Tyne, UK
    Neurology 69:911-6. 2007
    ..A mitochondrial etiology was considered in each case because of the association of dystonia with other less prominent clinical features such as epilepsy...
  101. ncbi The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy
    Robert McFarland
    Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, Framlington Place, Newcastle University, Newcastle upon Tyne, England NE2 4HH, UK
    Neuromuscul Disord 18:63-7. 2008
    ..This report is therefore the first description of the phenotype associated solely with this mutation and confirms its pathogenicity...

Research Grants62

  1. Characterization of RGC death susceptibility alleles
    Robert W Nickells; Fiscal Year: 2013
    ..the majority of these studies have so far examined rarer forms of the disease that exhibit Mendelian inheritance patterns. The majority of glaucomas, however, are complex genetic diseases that have multiple interacting loci that ..
  2. Transmissibility of Neurodegenerative Diseases
    DMITRY Y GOLDGABER; Fiscal Year: 2011
    ..clinical and neuropathological manifestations Most of the familial cases with simple autosomal dominant inheritance patterns are caused by a genetic mutation in one of several recently identified genes The familial cases together ..
  3. Exome Sequencing in Familial Cardiovascular Malformations
    KIM LEWIS MCBRIDE; Fiscal Year: 2012
    ..genes can be identified by highly selective genome-wide approaches, using families exhibiting Mendelian inheritance patterns for LVOT malformations...
  4. Transgenerational Epigenetic Programming of the Thyroid Axis
    Arturo Hernandez; Fiscal Year: 2013
    ..we propose herein experiments to: (1) Define the phenotypic consequences of the transgenerational inheritance patterns of the Dio3 observed in the descendants of an animal with an altered HPT axis; (2) Identify the epigenetic ..
  5. Genomic Organization of Recombination Hot Spots
    Kenneth Paigen; Fiscal Year: 2013
    ..of equal concern in elucidating the structure of this novel regulatory system and its ability to influence inheritance patterns. We will study the quantitative regulation of three hotspots whose activities are regulated by genes that ..
  6. ENHANCED DEVELOPMENT OF THE XIPHOPHORUS MODEL SYSTEM
    RONALD WALTER; Fiscal Year: 2011
    ..traditional strength of the Xiphophorus experimental model involves the non-biased assessment of genetic inheritance patterns associated with complex phenotypes within intact animals...
  7. Exome sequencing and functional studies in familial CHD
    Peter White; Fiscal Year: 2013
    ..genes can be identified by a genome-wide sequencing approach, using families exhibiting Mendelian inheritance patterns. The rationale for the proposed research is that the discovery of genetic causes of CHDs has the potential ..
  8. Genetic Basis of Congenital Anophthalmia
    THOMAS M GLASER; Fiscal Year: 2013
    ..Most cases are sporadic, but autosomal recessive, dominant and X-linked inheritance patterns have been described, often with reduced penetrance...
  9. ENHANCED DEVELOPMENT OF THE XIPHOPHORUS MODEL SYSTEM
    RONALD WALTER; Fiscal Year: 2013
    ..traditional strength of the Xiphophorus experimental model involves the non-biased assessment of genetic inheritance patterns associated with complex phenotypes within intact animals...
  10. Center for Biomedical Research Excellence, Epigenomics of Development and Disease
    Roxanne A Vaughan; Fiscal Year: 2013
    ..research in trans-generational models to understand how changes in the epigenomic may be linked to complex inheritance patterns and familial risk factors for high incidence diseases...
  11. Dissecting the establishment and regulation of human pluripotency
    Alexander Meissner; Fiscal Year: 2013
    ..Project IV (Eggan) will characterize the inheritance patterns and maintenance of inactivated X chromosomes during reprogramming and in pluripotent cell cultures...
  12. Next Generation Mendelian Genetics
    JAY ASHOK SHENDURE; Fiscal Year: 2010
    ..is likely to replace linkage analysis as the dominant paradigm for studying diseases exhibiting Mendelian inheritance patterns and will provide a new path forward for medical genetics...
  13. Mapping genes for schizophrenia in a founder population
    Maria Karayiorgou; Fiscal Year: 2013
    ..one of the first family-based studies to explore the important question of how CNVs contribute to the known inheritance patterns of schizophrenia and dictates the research direction of this project for the next funding cycle...
  14. Roles of Cytokinesis in Polarized Neural Stem Cell Divisions and Brain Growth
    Noelle D Dwyer; Fiscal Year: 2013
    ..of cytokinesis in cortical neural progenitors at different stages of development, 2) correlate midbody inheritance patterns with symmetric and asymmetric fates, and test the fate consequences of experimentally increasing midbody ..
  15. Host Genetic Control of HIV
    Richard E Sutton; Fiscal Year: 2013
    ..allow us to explore the genetics of elite control, with a focus on family studies, in order to determine inheritance patterns and causative genes...
  16. IDENTICAL BY DESCENT MAPPING OF CRANIOFACIAL ANOMALIES
    Andrew Lidral; Fiscal Year: 1999
    ..In addition, identifying genes for syndromic clefts, which have simple Mendelian inheritance patterns, may also provide clues to the etiology of non-syndromic clefts...
  17. MODELS IN POPULATION GENETICS
    Glenys Thomson; Fiscal Year: 2000
    ..determine the modes of inheritance of the HLA associated diseases have led to a better understanding of the inheritance patterns in insulin dependent diabetes mellitus, rheumatoid arthritis, multiple sclerosis, ankylosing spondylitis, ..
  18. GENE DISCOVERY FOR THE KENNY CAFFEY SYNDROME
    Bruce Gelb; Fiscal Year: 2000
    ..Both autosomal dominant and autosomal recessive inheritance patterns have been described...
  19. Discordant MZ twins in craniofacial gene discovery
    Jeffrey Murray; Fiscal Year: 2006
    ..These difficulties include inheritance patterns that are not Mendelian, the involvement of environmental covariates, stochastic effects and multiple ..
  20. ANIMAL MODEL OF CRANIOSYNOSTOSIS
    Mark Mooney; Fiscal Year: 1993
    ..b>Inheritance patterns, longitudinal craniofacial growth data, and karyotypes will also be collected and assessed in a preliminary ..
  21. LINKAGE AND ASSOCIATION OF GENETIC MARKERS AND DISEASE
    CATHERINE FALK; Fiscal Year: 2001
    ..of advances from this work, better mathematical tools for the study of diseases with complex or ill-defined inheritance patterns will be available...
  22. RETROVIRAL INSERTIONAL MUTAGENESIS IN ES CELLS AND MICE
    ANGELA TYNER; Fiscal Year: 1993
    ..Our specific aim is to develop a strategy for following the inheritance patterns of large numbers of integrated retroviruses at the DNA level...
  23. VALIDITY OF SELF REPORTED FAMILY HISTORY OF LYMPHOMAS
    Sally Glaser; Fiscal Year: 2001
    ..family histories of HD were known to be accurate, efficient studies of HD family association, inheritance patterns and susceptibility genes could be conducted without additional patient contact, using new statistical ..
  24. FUNCTIONAL BRAIN IMAGING AND MENTAL DISORDERS IN AGING
    Gary Small; Fiscal Year: 1999
    ..Families with autosomal dominant inheritance patterns for AD are rare, but such pedigrees provide information for linkage analysis of the FAD gene(s)...
  25. GENETIC KNOWLEDGE AND ATTITUDES IN ALZHEIMER'S DISEASE
    Deborah Blacker; Fiscal Year: 2001
    ..Information about the ethical, legal, and social implications is just as critical as that about inheritance patterns and risk probabilities...
  26. Human Genomic Polymorphism in Autism
    Aravinda Chakravarti; Fiscal Year: 2006
    ..It is commonly assumed that complex disease inheritance patterns arise from the interaction between multiple genetic and environmental factors but the molecular nature of ..
  27. MAPPING COMPLEX DISEASES USING MARKOV CHAIN MONTE CARLO
    Simon Heath; Fiscal Year: 2001
    ..Alzheimer's disease, are those which, while having a genetic component, do not display classical Mendelian inheritance patterns. This is thought to be due to such diseases being controlled by multiple, possibly interacting, genetic and ..
  28. SKELETAL DYSPLASIAS OF PAKISTAN
    Daniel Cohn; Fiscal Year: 2001
    ..To describe the clinical and radiographic phenotypes and the inheritance patterns in skeletal dysplasias of Pakistan and, in a subset of families, to identify the chromosomal location of ..
  29. URINARY TRACT INFECTIONS--IMMUNE BASIS OF SUSCEPTIBILITY
    WALTER HOPKINS; Fiscal Year: 2003
    ..that a heritable trait increases the susceptibility to some women to recurrent UTIs by analysis of familial inheritance patterns; 4) to evaluate the hypothesis that a genetic locus (or loci) in mice will increase susceptibilityto an ..
  30. METHOD FOR GLOBAL AND TARGETED DISCOVERY OF SNP MARKERS
    Pui Yan Kwok; Fiscal Year: 2001
    ..As such, they will help define the genetic factors associated with common diseases with complex inheritance patterns and the relationship between genetic and environmental influences on human health and disease.
  31. NEW METHODS FOR HIGH THROUGHPUT GENOME ANALYSIS
    Pui Yan Kwok; Fiscal Year: 2001
    ..As such, they will help define the genetic factors associated with common diseases, with complex inheritance patterns, and the relationship between genetic and environmental influences on human health and disease.
  32. GENETIC MUTATIONS AS ETIOLOGIC FACTORS IN OSTEOARTHRITIS
    Roland Moskowitz; Fiscal Year: 2004
    ..Interest in a genetic role for the etiology of OA has expanded based on clinical identification of positive inheritance patterns in certain disease subsets such as Heberden's nodes, differences in the prevalence of OA among different ..
  33. GENETIC STUDIES OF OBESITY IN AFRICAN AMERICAN WOMEN
    R Price; Fiscal Year: 1999
    ..This population has a high prevalence and degree of obesity, large average family sizes, differences in inheritance patterns from other groups, and genetic admixture with Whites...
  34. Genome-Wide Screens for Autism Susceptibility Loci
    Dan Arking; Fiscal Year: 2004
    ..Indeed, it is commonly assumed that complex disease inheritance patterns manifest the interaction among multiple genes, the environment, and epigenetic factors...
  35. CHILDHOOD OBESITY AND TYPE II DIABETES IN HISPANIC YOUTH
    Naomi Neufeld; Fiscal Year: 1992
    ..this early onset form of NIDDM in Ventura County; to determine whether undiagnosed cases exit; to explore inheritance patterns in families with young onset NIDDM patients; and to explore the relationship of environmentally ..
  36. Characterizing a genetic history of African populations
    FLOYD REED; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  37. Beta-glucocerebrosidase Mutations and PD in the Ashkenazim
    Lorraine Clark; Fiscal Year: 2006
    ..Significantly, recent studies suggest that mutations in the GBA gene may be associated with Parkinson's disease and the lysosomal/autophagic pathway has also been implicated in PD pathogenesis. [unreadable] [unreadable]..
  38. Genetic Investigation of Arrhythmogenic Right Ventricular Dysplasia
    Daniel Judge; Fiscal Year: 2008
    ..A more efficient type of genetic analysis will be tested. This will lead to better understanding of genetic susceptibility to sudden death from heart disease. [unreadable] [unreadable] [unreadable]..
  39. Pathogenesis and Therapy of Marfan Vascular Disease
    Daniel Judge; Fiscal Year: 2007
    ..Dr. Judge's training will be based in the School of Public Health at Johns Hopkins, and he will be advised by a committee of experts to create a fruitful environment for the development of an independent clinical scientist. ..
  40. ALIGNMENT BASED METHODS FOR MOLECULAR SEQUENCE ANALYSIS
    Steven Henikoff; Fiscal Year: 2001
    ..This effort could yield new eukaryotic family members of great importance for understanding epigenetic phenomena, some of which, such as parental imprinting, are relevant to human disease. ..
  41. WORKSHOPS--MOUSE MUTAGENESIS
    Joseph Nadeau; Fiscal Year: 2003
    ..abstract_text> ..
  42. Gordon Research Conferences: Collagen 2003, 2005, 2007
    Peter Byers; Fiscal Year: 2003
    ..The funds will be used to partially defray conferee travel expenses and registration fees for invited speakers and for young members of the research community. ..
  43. GENETICS OF AGED RELATED CATARACTS IN SALISBURY MARYLAND
    Nathan Congdon; Fiscal Year: 2002
    ....
  44. GENETICS OF A NEWLY EVOLVED TESTES SPECIFIC GENE SDIC
    Daniel Hartl; Fiscal Year: 2003
    ..Aim 5 recognizes Sdic as a candidate gene with a possible role in postmating reproductive isolation between D. melanogaster and D. simulans, which will be tested by interspecific germline transformation. ..
  45. Working Memory and Social Functioning in Schizophrenia
    Tyrone Cannon; Fiscal Year: 2007
    ..abstract_text> ..
  46. Afterdepolarizations and Cardiac Arrhythmias
    James N Weiss; Fiscal Year: 2010
    ..S. citizens each year. The goal is to use this information to develop novel therapies to prevent this deadly manifestation of heart disease. ..
  47. Neural Phenotypes for Schizophrenia and Bipolar Disorder
    Tyrone D Cannon; Fiscal Year: 2010
    ....
  48. International Conference on Episodic Ataxia Syndromes
    Joanna Jen; Fiscal Year: 2005
    ..abstract_text> ..
  49. A Genetic Model of Uveitis
    TAMMY MARTIN; Fiscal Year: 2006
    ..Both transgenic mice and transgenic mice crossed with NOD2 knock-out mice will be studied. [unreadable] [unreadable] [unreadable]..
  50. Retrograde In Situ Isolated Cardiac Gene Delivery
    Charles Bridges; Fiscal Year: 2004
    ..Further development of this approach may ultimately lead to the development of clinically relevant techniques of therapeutic cardiac gene delivery for the treatment of heart failure of diverse etiologies. ..
  51. Somatic Mitochondrial DNA Mutations in Neurons and Glia
    David Simon; Fiscal Year: 2007
    ..unreadable] [unreadable]..
  52. Genetic Modulation of Noise Injury to the Cochlear Lateral Wall
    KEVIN OHLEMILLER; Fiscal Year: 2007
    ..The gene, and the processes in which it is involved, may affect the long-term stability of cochlear injury, and the accumulation of injury that may be diagnosed as presbycusis. ..
  53. GPCR signaling cascades in Cryptococcus neoformans
    Joseph Heitman; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable]..
  54. ADOLESCENT MARIJUANA USE IN NATIVE AMERICANS
    Cindy Ehlers; Fiscal Year: 2008
    ..abstract_text> ..
  55. Genetic Modulation of Noise Injury to the Cochlear Lateral Wall
    KEVIN OHLEMILLER; Fiscal Year: 2009
    ..The gene, and the processes in which it is involved, may affect the long-term stability of cochlear injury, and the accumulation of injury that may be diagnosed as presbycusis. ..
  56. Predictive Learning of Transcriptional Networks
    Saeed Tavazoie; Fiscal Year: 2008
    ..abstract_text> ..
  57. Analysis of Genetic Susceptibility to Anterior Uveitis
    TAMMY MARTIN; Fiscal Year: 2009
    ..Specific Aim 3: To identify specific candidate gene mutations by using SNP marker analysis, by comparative DNA sequencing and by denaturing HPLC analysis. ..
  58. Genetics of mating and fruiting in Cryptococcus neoformans
    Joseph Heitman; Fiscal Year: 2010
    ..neoformans and C. gattii applicable to development of treatment approaches, diagnostics, or environmental interventions to reduce exposure to infectious spores. ..
  59. Cleveland Cell Biology Symposium: Regulation
    ALAN TARTAKOFF; Fiscal Year: 2004
    ..The results should be an intense synthesis of knowledge which will be stimulating for both students and established faculty. ..