Experts and Doctors on alleles in United States

Summary

Locale: United States
Topic: alleles

Top Publications

  1. Strecker T, Halsell S, Fisher W, Lipshitz H. Reciprocal effects of hyper- and hypoactivity mutations in the Drosophila pattern gene torso. Science. 1989;243:1062-6 pubmed
    ..Mutations in the tailless terminal gene act as dominant maternal suppressors of the hyperactive torso allele, indicating that the torso product acts through, or in concert with, the tailless product. ..
  2. Chapman T, Heikeman A, Bjorkman P. The inhibitory receptor LIR-1 uses a common binding interaction to recognize class I MHC molecules and the viral homolog UL18. Immunity. 1999;11:603-13 pubmed
    ..LIR-1 recognition of class I molecules resembles the CD4-class II MHC interaction more than the KIR-class I interaction, implying a functional distinction between LIR-1 and KIRs. ..
  3. Tabb A, Utsugi T, Wooten Kee C, Sasaki T, Edling S, Gump W, et al. Genes encoding ribosomal proteins Rps0A/B of Saccharomyces cerevisiae interact with TOM1 mutants defective in ribosome synthesis. Genetics. 2001;157:1107-16 pubmed
    ..Ribosome synthesis is therefore included among the cellular processes governed by members of the hect-domain-containing E3 ubiquitin-protein ligase family. ..
  4. Lazzaro B, Clark A. Evidence for recurrent paralogous gene conversion and exceptional allelic divergence in the Attacin genes of Drosophila melanogaster. Genetics. 2001;159:659-71 pubmed
    ..All three genes are characterized by divergent haplotypes, and one Attacin AB allele appears to have recently increased rapidly in frequency in the population. ..
  5. Oates J, Levesque M, Hobbs M, Smith E, Molano I, Page G, et al. Nitric oxide synthase 2 promoter polymorphisms and systemic lupus erythematosus in african-americans. J Rheumatol. 2003;30:60-7 pubmed
    ..The extent of linkage disequilibrium between the G-954C and CCTTT-8 repeat NOS2 promoter polymorphisms suggests that they were co-inherited. ..
  6. Barton J, Rivers C, Niyongere S, Bohannon S, Acton R. Allele frequencies of hemojuvelin gene (HJV) I222N and G320V missense mutations in white and African American subjects from the general Alabama population. BMC Med Genet. 2004;5:29 pubmed
    ..HJV I222N and G320V are probably uncommon causes or modifiers of primary iron overload in adult whites and African Americans in Alabama. Double heterozygosity for HJV I222N and HFE C282Y may not promote increased iron absorption. ..
  7. Czarny M, Babcock K, Baus R, Manoharan H, Pitot H. Hepatocellular carcinomas of the albumin SV40 T-antigen transgenic rat display fetal-like re-expression of lgf2 and deregulation of H19. Mol Carcinog. 2007;46:747-57 pubmed
    ..These results imply that another regulatory mechanism other than the generally accepted ICR/CTCF mechanism may play a role in the control of Igf2 and H19 expression. ..
  8. Kittur J, Knudson R, Lasho T, Finke C, Gangat N, Wolanskyj A, et al. Clinical correlates of JAK2V617F allele burden in essential thrombocythemia. Cancer. 2007;109:2279-84 pubmed
    ..JAK2V617F allele burden imparts additional phenotypic effects in ET. ..
  9. Ellett J, Evans Z, Zhang G, Chavin K, Spyropoulos D. A rapid PCR-based method for the identification of ob mutant mice. Obesity (Silver Spring). 2009;17:402-4 pubmed publisher
    ..This primer-specific PCR method allows simultaneous identification of +/+, ob/+, and ob/ob genotypes prior to breeding age to facilitate breeding and research studies in an important model of clinical obesity. ..

More Information

Publications597 found, 100 shown here

  1. Kemp B, Church D, Hatzold J, Conradt B, Lambie E. Gem-1 encodes an SLC16 monocarboxylate transporter-related protein that functions in parallel to the gon-2 TRPM channel during gonad development in Caenorhabditis elegans. Genetics. 2009;181:581-91 pubmed publisher
    ..GEM-1GFP is expressed within the gonadal precursor cells and localizes to the plasma membrane. Therefore, we propose that GEM-1 acts in parallel to the GON-2 channel to promote cation uptake within the developing gonad. ..
  2. Huang L, Brooks S, Li W, Fellers J, Nelson J, Gill B. Evolution of new disease specificity at a simple resistance locus in a crop-weed complex: reconstitution of the Lr21 gene in wheat. Genetics. 2009;182:595-602 pubmed publisher
    ..We suggest that selection pressure in crop-weed complexes contributes to this process...
  3. Chen Y, Li X, Li J. A novel approach for haplotype-based association analysis using family data. BMC Bioinformatics. 2010;11 Suppl 1:S45 pubmed publisher
    ..We present a novel haplotype-based association approach using family data. Experiment results demonstrate that it achieves significantly higher power than TDT-based approaches. ..
  4. Lank S, Wiseman R, Dudley D, O Connor D. A novel single cDNA amplicon pyrosequencing method for high-throughput, cost-effective sequence-based HLA class I genotyping. Hum Immunol. 2010;71:1011-7 pubmed publisher
    ..Unprecedented typing throughput results from a novel single cDNA-PCR amplicon strategy requiring only 1 PCR amplification per sample. This method dramatically reduces cost for genotyping of large cohorts. ..
  5. Li S, Wang H, Smith A, Zhang B, Zhang X, Schoch G, et al. Predicting multiallelic genes using unphased and flanking single nucleotide polymorphisms. Genet Epidemiol. 2011;35:85-92 pubmed publisher
    ..These preliminary results suggest the feasibility of predicting other polymorphic genetic alleles, since HLA loci are almost certainly among most polymorphic genes. ..
  6. Beevers C, Marti C, Lee H, Stote D, Ferrell R, Hariri A, et al. Associations between serotonin transporter gene promoter region (5-HTTLPR) polymorphism and gaze bias for emotional information. J Abnorm Psychol. 2011;120:187-97 pubmed publisher
    ..This bias toward positive stimuli during the later stages of information processing likely reflects a strategic effort to downregulate heightened reactivity to negative stimuli among 5-HTTLPR S/LG allele carriers. ..
  7. Shull A, Clendenning M, Ghoshal Gupta S, Farrell C, Vangapandu H, Dudas L, et al. Somatic mutations, allele loss, and DNA methylation of the Cub and Sushi Multiple Domains 1 (CSMD1) gene reveals association with early age of diagnosis in colorectal cancer patients. PLoS ONE. 2013;8:e58731 pubmed publisher
    ..Deep amplicon sequencing and methylation-specific PCR reveal that CSMD1 alterations can correlate with earlier clinical presentation in colorectal tumors, thus further implicating CSMD1 as a tumor suppressor gene. ..
  8. O Connor T, Kiezun A, Bamshad M, Rich S, Smith J, Turner E, et al. Fine-scale patterns of population stratification confound rare variant association tests. PLoS ONE. 2013;8:e65834 pubmed publisher
    ..Our results have important implications for the design, analysis, and interpretation of rare variant genome-wide association studies. ..
  9. Chambers R, Call G, Meyer D, Smith J, Techau J, Pearman K, et al. Nicotine increases lifespan and rescues olfactory and motor deficits in a Drosophila model of Parkinson's disease. Behav Brain Res. 2013;253:95-102 pubmed publisher
    ..Our results suggest that nicotine also may be protective in familial PD patients, who can be easily identified before motor symptoms occur. ..
  10. Klein R, Li X, Kuo J, Klein B, Cotch M, Wong T, et al. Associations of candidate genes to age-related macular degeneration among racial/ethnic groups in the multi-ethnic study of atherosclerosis. Am J Ophthalmol. 2013;156:1010-1020.e1 pubmed publisher
    ..The relationships of 11 candidate genes to early AMD varied among 4 racial/ethnic groups, and partially explained the observed variations in early AMD prevalence among them. ..
  11. Swiderski M, Innes R. The Arabidopsis PBS1 resistance gene encodes a member of a novel protein kinase subfamily. Plant J. 2001;26:101-12 pubmed
    ..These data suggest that PBS1 and Pto may fulfil different functions in the recognition of pathogen avirulence proteins. We discuss several possible models for the roles of PBS1 and RPS5 in AvrPphB recognition. ..
  12. Takahashi M, Frost C, Oyadomari K, Pinho M, Sao D, Chima Okereke O, et al. A novel immunodetection screen for vacuolar defects identifies a unique allele of VPS35 in S. cerevisiae. Mol Cell Biochem. 2008;311:121-36 pubmed publisher
    ..Our results indicate that ENV genes may define new gene functions at the late endosome to vacuole interface. ..
  13. Jude C, Climer L, Xu D, Artinger E, Fisher J, Ernst P. Unique and independent roles for MLL in adult hematopoietic stem cells and progenitors. Cell Stem Cell. 2007;1:324-37 pubmed publisher
    ..These studies demonstrate that Mll plays selective and independent roles within the hematopoietic system, maintaining quiescence in HSCs and promoting proliferation in progenitors...
  14. Robbins M, Sekhon R, Meeley R, Chopra S. A Mutator transposon insertion is associated with ectopic expression of a tandemly repeated multicopy Myb gene pericarp color1 of maize. Genetics. 2008;178:1859-74 pubmed publisher
    ..We propose that the Mu1 insertion interferes with the DNA methylation and related chromatin packaging of P1-wr, thereby inducing expression from gene copy (or copies) that is otherwise suppressed. ..
  15. Toth G, Zraly C, Thomson T, Jones C, Lapetino S, Muraskas J, et al. Congenital anomalies and rhabdoid tumor associated with 22q11 germline deletion and somatic inactivation of the SMARCB1 tumor suppressor. Genes Chromosomes Cancer. 2011;50:379-88 pubmed publisher
    ..The presence of tandem oriented BCRL modules located within interspersed low copy repeat elements throughout the 22q11 distal region may predispose this area for microdeletions through nonalleleic homologous recombination. ..
  16. Muralla R, Lloyd J, Meinke D. Molecular foundations of reproductive lethality in Arabidopsis thaliana. PLoS ONE. 2011;6:e28398 pubmed publisher
  17. Rangani G, Khodakovskaya M, Alimohammadi M, Hoecker U, Srivastava V. Site-specific methylation in gene coding region underlies transcriptional silencing of the Phytochrome A epiallele in Arabidopsis thaliana. Plant Mol Biol. 2012;79:191-202 pubmed publisher
    ..Further, as the identified site (exon 1) is not critical for the promoter activity, transcription elongation rather than transcription initiation is likely to be affected by this site-specific CG methylation. ..
  18. Glubb D, Maranian M, Michailidou K, Pooley K, Meyer K, Kar S, et al. Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1. Am J Hum Genet. 2015;96:5-20 pubmed publisher
    ..We propose that the cancer risk alleles act to increase MAP3K1 expression in vivo and might promote breast cancer cell survival. ..
  19. Nguyen J, Viterbo D, Anand R, Verra L, Sloan L, Richard G, et al. Differential requirement of Srs2 helicase and Rad51 displacement activities in replication of hairpin-forming CAG/CTG repeats. Nucleic Acids Res. 2017;45:4519-4531 pubmed publisher
    ..These results clarify the many roles of Srs2 in facilitating replication through fork-blocking hairpin lesions. ..
  20. Patchett S, Musalgaonkar S, Malyutin A, Johnson A. The T-cell leukemia related rpl10-R98S mutant traps the 60S export adapter Nmd3 in the ribosomal P site in yeast. PLoS Genet. 2017;13:e1006894 pubmed publisher
    ..These results strongly support a model that Nmd3 must be dislodged from the P site to allow Sdo1 activation of Efl1, and define a failure in the removal of Nmd3 as the molecular defect of the T-ALL-associated rpl10-R98S mutation. ..
  21. Whitney M, Saito H, Jakobs P, Gibson R, Moses R, Grompe M. A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews. Nat Genet. 1993;4:202-5 pubmed
    ..Three additional Jewish patients bearing this allele were found upon screening 21 other families. We conclude that a common mutation in FACC accounts for the majority of Fanconi anaemia in Ashkenazi-Jewish families. ..
  22. Hammell C, Gross S, Zenklusen D, Heath C, Stutz F, Moore C, et al. Coupling of termination, 3' processing, and mRNA export. Mol Cell Biol. 2002;22:6441-57 pubmed
    ..Of the core 3' processing factors tested (Rna14p, Rna15p, Pcf11p, Hrp1p, Fip1p, and Cft1p), only Hrp1p shuttles. Overexpression of Rat8p/Dbp5p suppresses both 3' processing and mRNA export defects found in xpo1-1 cells. ..
  23. Ambrosone C, Moysich K, Furberg H, Freudenheim J, Bowman E, Ahmed S, et al. CYP17 genetic polymorphism, breast cancer, and breast cancer risk factors. Breast Cancer Res. 2003;5:R45-51 pubmed
  24. Muro I, Berry D, Huh J, Chen C, Huang H, Yoo S, et al. The Drosophila caspase Ice is important for many apoptotic cell deaths and for spermatid individualization, a nonapoptotic process. Development. 2006;133:3305-15 pubmed
    ..Finally, we demonstrate that Ice participates in, but is not absolutely required for, the non-apoptotic process of spermatid differentiation. ..
  25. Haugarvoll K, Toft M, Ross O, Stone J, Heckman M, White L, et al. ELAVL4, PARK10, and the Celts. Mov Disord. 2007;22:585-7 pubmed
    ..Our data suggest that the association between ELAVL4 and PD previously observed might be explained by a Celtic-founder effect. ..
  26. Rossetti S, Kubly V, Consugar M, Hopp K, Roy S, Horsley S, et al. Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. Kidney Int. 2009;75:848-55 pubmed publisher
    ..Our study indicates that the dosage of functional PKD1 protein may be critical for cyst initiation. ..
  27. Khatib H, Maltecca C, Monson R, Schutzkus V, Rutledge J. Monoallelic maternal expression of STAT5A affects embryonic survival in cattle. BMC Genet. 2009;10:13 pubmed publisher
    ..Our results imply that STAT5A affects embryonic survival in a manner influenced by developmental stage and allele parent of origin. ..
  28. Meinke D, Sweeney C, Muralla R. Integrating the genetic and physical maps of Arabidopsis thaliana: identification of mapped alleles of cloned essential (EMB) genes. PLoS ONE. 2009;4:e7386 pubmed publisher
    ..The alignment of genetic and physical maps presented here should facilitate the continued analysis of essential genes in Arabidopsis and further characterization of a broad spectrum of mutant phenotypes in a model plant. ..
  29. O Connor M, Gregory S. Inactivation of the RluD pseudouridine synthase has minimal effects on growth and ribosome function in wild-type Escherichia coli and Salmonella enterica. J Bacteriol. 2011;193:154-62 pubmed publisher
    ..coli K-12 strains carrying a partially defective RF2 protein are especially susceptible to perturbation of ribosome-RF interactions, such as that caused by loss of h69 ? modifications. ..
  30. Radovick S, Nations M, Du Y, Berg L, Weintraub B, Wondisford F. A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency. Science. 1992;257:1115-8 pubmed
    ..A point mutation in this gene was identified on one allele in a patient with combined pituitary hormone deficiency. Mutant Pit-1 binds DNA normally but acts as a dominant inhibitor of Pit-1 action in the pituitary. ..
  31. De Veaux L, Hoagland N, Smith G. Seventeen complementation groups of mutations decreasing meiotic recombination in Schizosaccharomyces pombe. Genetics. 1992;130:251-62 pubmed
    ..These results indicate that these multiple rec gene products are required for high level meiotic recombination throughout the S. pombe genome. ..
  32. Drysdale R, Warmke J, Kreber R, Ganetzky B. Molecular characterization of eag: a gene affecting potassium channels in Drosophila melanogaster. Genetics. 1991;127:497-505 pubmed
    ..Two different eag mutations separated by over 20 kb interrupt the same transcript identifying it as the likely eag message. cDNAs representing a portion of this transcript have been isolated.(ABSTRACT TRUNCATED AT 250 WORDS) ..
  33. Ballinger D, Benzer S. Photophobe (Ppb), a Drosophila mutant with a reversed sign of phototaxis; the mutation shows an allele-specific interaction with sevenless. Proc Natl Acad Sci U S A. 1988;85:3960-4 pubmed
    ..These data show that the sev gene, in addition to its role in the differentiation of photoreceptor cell 7, plays a role along with Ppb in a common visual information-processing pathway. ..
  34. Spear B. Mouse alpha-fetoprotein gene 5' regulatory elements are required for postnatal regulation by raf and Rif. Mol Cell Biol. 1994;14:6497-505 pubmed
    ..Furthermore, the AFP 5' control region is sufficient to confer raf and Rif responsiveness to the linked H-2Dd structural gene, suggesting that raf and Rif act at the level of transcriptional initiation. ..
  35. Klein M, Schultz D, Edwards A, Matise T, Rust K, Berselli C, et al. Age-related macular degeneration. Clinical features in a large family and linkage to chromosome 1q. Arch Ophthalmol. 1998;116:1082-8 pubmed
    ..This knowledge will contribute to the development of preventive and improved treatment strategies. ..
  36. Pfau R, Van Den Bussche R, McBee K, Lochmiller R. Allelic diversity at the Mhc-DQA locus in cotton rats (Sigmodon hispidus) and a comparison of DQA sequences within the family muridae (Mammalia: Rodentia). Immunogenetics. 1999;49:886-93 pubmed
    ..norvegicus, and six Australian species of Rattus. Results depicted monophyly for each genus, and this concordance between species and gene trees represents a lack of evidence for trans-species persistence of alleles among these genera...
  37. Chang C, Hopper N, Sternberg P. Caenorhabditis elegans SOS-1 is necessary for multiple RAS-mediated developmental signals. EMBO J. 2000;19:3283-94 pubmed
    ..This SOS-1-independent signaling is not inhibited by SLI-1/Cbl and is not mediated by PTP-2/SHP, raising the possibility that there could be another RasGEF...
  38. Wu K, Wu P, Aris J. Nucleolar protein Nop12p participates in synthesis of 25S rRNA in Saccharomyces cerevisiae. Nucleic Acids Res. 2001;29:2938-49 pubmed
    ..Thus, Nop12p is a novel nucleolar protein required for pre-25S rRNA processing and normal rates of cell growth at low temperatures. ..
  39. Harvey A, Speksnijder G, Baugh L, Morris J, Ivarie R. Consistent production of transgenic chickens using replication-deficient retroviral vectors and high-throughput screening procedures. Poult Sci. 2002;81:202-12 pubmed
    ..Fourth-generation chicks that were nontransgenic, hemizygous, or homozygous for the transgene were identified with the combined genetic screening methods. ..
  40. Wang L, Ribaudo M, Zhao K, Yu N, Chen Q, Sun Q, et al. Novel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese family. Am J Med Genet A. 2003;121A:235-9 pubmed
    ..4 (RP11), the 12 bp PRPF31 deletion identified in this study appears to show high penetrance. These data expand the spectrum of PRPF31 mutations causing adRP, and confirm the role of PRPF31 in the pathogenesis of RP. ..
  41. Stellwagen A, Haimberger Z, Veatch J, Gottschling D. Ku interacts with telomerase RNA to promote telomere addition at native and broken chromosome ends. Genes Dev. 2003;17:2384-95 pubmed
    ..Thus, the interaction between Ku and TLC1 RNA enables telomerase to act at both broken and normal chromosome ends. ..
  42. Covault J, Pettinati H, Moak D, Mueller T, Kranzler H. Association of a long-chain fatty acid-CoA ligase 4 gene polymorphism with depression and with enhanced niacin-induced dermal erythema. Am J Med Genet B Neuropsychiatr Genet. 2004;127B:42-7 pubmed
    ..38%; P = 0.003) and a non-significant excess of the T allele in schizophrenia (44%; P = 0.29). The allele frequency for subjects with alcohol dependence did not differ from controls. ..
  43. Singh C, Curtis C, Yamamoto Y, Hall N, Kruse D, He H, et al. Eukaryotic translation initiation factor 5 is critical for integrity of the scanning preinitiation complex and accurate control of GCN4 translation. Mol Cell Biol. 2005;25:5480-91 pubmed
    ..Taken together, our results indicate that eIF5-CTD plays a critical role in both the assembly of the 43S complex and the post-assembly process in the 48S complex, likely during the scanning process. ..
  44. Salaita L, Kar R, Majee M, Downie A. Identification and characterization of mutants capable of rapid seed germination at 10 degrees C from activation-tagged lines of Arabidopsis thaliana. J Exp Bot. 2005;56:2059-69 pubmed
    ..The screen successfully recovered mutants completing germination faster than wild type at 10 degrees C. ..
  45. Shakir M, Gill J, Lundquist E. Interactions of UNC-34 Enabled with Rac GTPases and the NIK kinase MIG-15 in Caenorhabditis elegans axon pathfinding and neuronal migration. Genetics. 2006;172:893-913 pubmed
    ..MIG-2 Rac, which acts with CED-10 Rac, RAC-2 Rac, and UNC-34 Ena in axon pathfinding and cell migration, also acts with MIG-15 in PQR directional migration. ..
  46. Paulus J, Halloran M. Zebrafish bashful/laminin-alpha 1 mutants exhibit multiple axon guidance defects. Dev Dyn. 2006;235:213-24 pubmed
    ..In contrast to CNS axons, most peripheral axons appear normal in bal mutants. Our results, thus, reveal important and diverse functions for laminin-alpha1 in guiding developing axons in vivo. ..
  47. Mysliwiec M, Chen J, Powers P, Bartley C, Schneider M, Lee Y. Generation of a conditional null allele of jumonji. Genesis. 2006;44:407-11 pubmed
    ..Therefore, this mouse line harboring the conditional jmj null allele will provide a valuable tool for deciphering the tissue and cell lineage specific roles of JMJ. ..
  48. Chu X, Erdman R, Susek M, Gerst H, Derr K, Al Agha M, et al. Association of morbid obesity with FTO and INSIG2 allelic variants. Arch Surg. 2008;143:235-40; discussion 241 pubmed publisher
    ..However, FTO/INSIG2 double homozygotes and homozygote/heterozygote pairs had significantly higher BMIs than the other groups. Increased BMI in morbid obesity is associated with a combination of FTO and INSIG2 SNPs. ..
  49. Lazaryan A, Song W, Lobashevsky E, Tang J, Shrestha S, Zhang K, et al. Human leukocyte antigen class I supertypes and HIV-1 control in African Americans. J Virol. 2010;84:2610-7 pubmed publisher
    ..The study demonstrated the dominant role of HLA-B supertypes in HIV-1 clade B-infected African Americans and further dissected the contributions of individual class I alleles and their population frequencies to the supertype effects. ..
  50. Rodrigo Peiris T, Xu X, Zhao Q, Wang H, Meier I. RanGAP is required for post-meiotic mitosis in female gametophyte development in Arabidopsis thaliana. J Exp Bot. 2011;62:2705-14 pubmed publisher
    ..Nuclear division arrest during a mitotic stage suggests a role for plant RanGAP in mitotic cell cycle progression during female gametophyte development. ..
  51. Hill Burns E, Factor S, Zabetian C, Thomson G, Payami H. Evidence for more than one Parkinson's disease-associated variant within the HLA region. PLoS ONE. 2011;6:e27109 pubmed publisher
    ..60). Our findings suggest more than one PD-HLA association; either different alleles of the same gene, or separate loci. ..
  52. Lawson L, Vander Meer R, Shoemaker D. Male reproductive fitness and queen polyandry are linked to variation in the supergene Gp-9 in the fire ant Solenopsis invicta. Proc Biol Sci. 2012;279:3217-22 pubmed publisher
    ..Our findings highlight how strong worker-induced selection acting to maintain the Gp-9(b) allele in the polygyne social form may simultaneously result in reduced reproductive fitness for individual sexual offspring. ..
  53. Chen Q, Bleecker A. Analysis of ethylene signal-transduction kinetics associated with seedling-growth response and chitinase induction in wild-type and mutant arabidopsis. Plant Physiol. 1995;108:597-607 pubmed
    ..The relationship between the model and the biochemical mechanisms of well-characterized signal-transduction systems in animals is discussed. ..
  54. Carango P, Noble J, Marks H, Funanage V. Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy. Genomics. 1993;18:340-8 pubmed
  55. Cordell H, Elston R. Fieller's theorem and linkage disequilibrium mapping. Genet Epidemiol. 1999;17:237-52 pubmed
    ..We successfully apply our method to data from several published studies in which the true disease gene location is known. ..
  56. Bochud M, Eap C, Elston R, Bovet P, Maillard M, Schild L, et al. Association of CYP3A5 genotypes with blood pressure and renal function in African families. J Hypertens. 2006;24:923-9 pubmed
    ..The age effect may be due, in part, to the action of CYP3A5 on renal sodium handling. ..
  57. Nelson J, Wang S, Wu Y, Li X, Antony G, White F, et al. Single-nucleotide polymorphism discovery by high-throughput sequencing in sorghum. BMC Genomics. 2011;12:352 pubmed publisher
    ..Two strategies were used for DNA library preparation. Missing SNP genotype data were imputed by local haplotype comparison. The effect of library type and genomic diversity on SNP discovery and imputation are evaluated...
  58. Hirano T, Beck D, Wright C, Demuth D, Hackett M, Lamont R. Regulon controlled by the GppX hybrid two component system in Porphyromonas gingivalis. Mol Oral Microbiol. 2013;28:70-81 pubmed publisher
    ..Both the ?GppX mutant and a ?PGN_0151 mutant were deficient in monospecies biofilm formation, suggesting a role for the GppX-PGN_0151 regulon in colonization and survival of the organism...
  59. Lowry D, Purmal C, Juenger T. A population genetic transect of Panicum hallii (Poaceae). Am J Bot. 2013;100:592-601 pubmed publisher
    ..Panicum hallii is an emerging model system for perennial grass and bioenergy research, yet very little is known about the relationship between climate and population structure in this system. •..
  60. Miller J, Cunningham D, Lyle V, Finch C. Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease. Proc Natl Acad Sci U S A. 1991;88:4761-5 pubmed
  61. Honeyman A, Stewart G. The nucleotide sequence of the rodC operon of Bacillus subtilis. Mol Microbiol. 1989;3:1257-68 pubmed
    ..This is the first nucleotide sequence analysis of both the wild-type and mutant alleles of a morphogene in B. subtilis. ..
  62. Wang Q, Stacy T, Miller J, Lewis A, Gu T, Huang X, et al. The CBFbeta subunit is essential for CBFalpha2 (AML1) function in vivo. Cell. 1996;87:697-708 pubmed
    ..Here we demonstrate that homozygous mutation of the Cbfb gene results in the same phenotype. Our results demonstrate that the CBFbeta subunit is required for CBFalpha2 function in vivo. ..
  63. Sundberg H, Davis T. A mutational analysis identifies three functional regions of the spindle pole component Spc110p in Saccharomyces cerevisiae. Mol Biol Cell. 1997;8:2575-90 pubmed
    ..Our results strongly argue that Spc110p links the gamma-tubulin complex to the central plaque of the SPB. ..
  64. Vincent K, Wang Q, Jay S, Hobbs K, Rymond B. Genetic interactions with CLF1 identify additional pre-mRNA splicing factors and a link between activators of yeast vesicular transport and splicing. Genetics. 2003;164:895-907 pubmed
  65. Mason D, Mathe E, Fleming R, Goldfarb D. The Drosophila melanogaster importin alpha3 locus encodes an essential gene required for the development of both larval and adult tissues. Genetics. 2003;165:1943-58 pubmed
    ..These results are consistent with the view that the importin alpha's have both overlapping and distinct functions and that their role in animal development involves the spatial and temporal control of their expression. ..
  66. Maezawa I, Nivison M, Montine K, Maeda N, Montine T. Neurotoxicity from innate immune response is greatest with targeted replacement of E4 allele of apolipoprotein E gene and is mediated by microglial p38MAPK. FASEB J. 2006;20:797-9 pubmed
    ..These findings suggest a new mechanism by which inheritance of different APOE alleles may influence the outcome of neurodegenerative diseases associated with microglial innate immune response. ..
  67. Burrage L, Baskin Hill A, Sinasac D, Singer J, Croniger C, Kirby A, et al. Genetic resistance to diet-induced obesity in chromosome substitution strains of mice. Mamm Genome. 2010;21:115-29 pubmed publisher
  68. Akagi K, Li J, Symer D. How do mammalian transposons induce genetic variation? A conceptual framework: the age, structure, allele frequency, and genome context of transposable elements may define their wide-ranging biological impacts. Bioessays. 2013;35:397-407 pubmed publisher
    ..We present a conceptual framework to understand how the ages, allele frequencies, molecular structures, and especially the genomic context of mammalian TEs each can influence their various possible functional consequences. ..
  69. Schneider G, Bowser M, Shin D, Barr F, Ratajczak M. The paternally imprinted DLK1-GTL2 locus is differentially methylated in embryonal and alveolar rhabdomyosarcomas. Int J Oncol. 2014;44:295-300 pubmed publisher
    ..This difference in imprinting elucidates a novel genetic difference between these two RMS subtypes and may provide a potential diagnostic tool to distinguish between these subtypes. ..
  70. Haft R, Keating D, Schwaegler T, Schwalbach M, Vinokur J, Tremaine M, et al. Correcting direct effects of ethanol on translation and transcription machinery confers ethanol tolerance in bacteria. Proc Natl Acad Sci U S A. 2014;111:E2576-85 pubmed publisher
    ..coli, and that adaptive mutations in metJ, rho, and rpsQ help protect these central dogma processes in the presence of ethanol. ..
  71. Van Driest S, Wells Q, Stallings S, Bush W, Gordon A, Nickerson D, et al. Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records. JAMA. 2016;315:47-57 pubmed publisher
    ..In an unselected population, the putatively pathogenic genetic variants were not associated with an abnormal phenotype. These findings raise questions about the implications of notifying patients of incidental genetic findings. ..
  72. Rehker J, Rodhe J, Nesbitt R, Boyle E, Martin B, Lord J, et al. Caspase-8, association with Alzheimer's Disease and functional analysis of rare variants. PLoS ONE. 2017;12:e0185777 pubmed publisher
  73. Cai Z, Pease L. Structural and functional analysis of three D/L-like class I molecules from H-2v: indications of an ancestral family of D/L genes. J Exp Med. 1992;175:583-96 pubmed
    ..We propose that current alleles are derived from more than one ancestral locus in a manner similar to the origin of the gamma 2 a immunoglobulin constant region alleles. ..
  74. Roher A, Kuo Y, Esh C, Knebel C, Weiss N, Kalback W, et al. Cortical and leptomeningeal cerebrovascular amyloid and white matter pathology in Alzheimer's disease. Mol Med. 2003;9:112-22 pubmed
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    ..americana). Low bootstrap support, even upon exclusion of (known) hybrid genotypes from the data matrix, suggests the existence of ancient hybridization or that the botanical races originated more recently than previously thought...
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    ..Further, this activity is dependent on the presence of the C-terminus-specific negative regulator Chibby. Our data clearly show that nuclear localization of beta-catenin is in fact necessary for Wnt pathway activation. ..
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    ..Overall, these results suggest that dhfr alleles that confer high levels of resistance to antifolates are rare, even in eastern and southern Africa, where pyrimethamine has been intensively used. ..
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    ..frq-driven luciferase as a reporter of the circadian oscillator may in this way provide a means for assessing prospective role(s) of metabolic and/or ancillary oscillators within cellular circadian systems. ..
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    ..These findings demonstrate that nutrients can negatively regulate Smk1 through the Ras/cAMP pathway and that Ime2 is a key activator of Smk1 signaling. ..
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    ..Deleterious recessive mutations completely linked to the ancestral Y chromosome can prevent invasion of a neo-W chromosome or result in a stable equilibrium at which XY and ZW systems segregate simultaneously at two linkage groups. ..
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    ..However, ICAM1 SNPs were not strongly related to either IMT or CAC. Our findings in CARDIA suggest that ICAM1 variants are not major early contributors to subclinical atherosclerosis. ..
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    ..Thus, it appears that Mamu-A1*007:01 presents SIV-derived peptides to antigen-specific CD8(+) T cells and is part of the immune response to SIV(mac)239...
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    ..Thus, mutations of the aru EPS8L3 gene interact with the alleles of a particular genetic background to regulate arouser expression and reveals a role of this gene in memory. ..
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    ..These results support a model in which transcription from the Snrpn upstream exons directs the maternal imprint at the PWS-IC. ..
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    ..g., gene conversion) and encourages further work to dissect the evolutionary processes acting upon genomic regions that determine mating compatibility...
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    ..Together, these results provide clear evidence that ESET controls hypertrophic differentiation of growth plate chondrocytes and endochondral ossification during embryogenesis and postnatal development...
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    ..We also observed a change in body size across the range. Body size, as measured by male hind femur length, correlated closely with latitude, a possible indication of differential selection across the species range. ..
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    ..Thus, we suggest that the current version of the biosensor lacks adequate sensitivity and should be improved prior to its use as a point-of-care diagnostic for G6PD deficiency. ..
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    ..Duplication of the RCCX modules probably occurred before the speciation of great apes and humans as they contain the same breakpoint region of RP and Gene X gene duplication. ..