Experts and Doctors on genotype in Boston, Massachusetts, United States


Locale: Boston, Massachusetts, United States
Topic: genotype

Top Publications

  1. Iakoubova O, Dushkin H, Beier D. Genetic analysis of a quantitative trait in a mouse model of polycystic kidney disease. Am J Respir Crit Care Med. 1997;156:S72-7 pubmed
    ..This type of effect, which is an example of genetic epistasis, will make the molecular characterization of loci that contribute to complex traits markedly more difficult than the analysis of monogenic disorders. ..
  2. Baron R, Palmer L, Tantisira K, Gabriel S, Sonna L, Le L, et al. DNA sequence variants in epithelium-specific ETS-2 and ETS-3 are not associated with asthma. Am J Respir Crit Care Med. 2002;166:927-32 pubmed
    ..This study suggests that epithelium-specific ETS-2 and ETS-3 genes are unlikely to contain polymorphic loci that have a major impact on asthma susceptibility in our population. ..
  3. Weir B, Woo M, Getz G, Perner S, Ding L, Beroukhim R, et al. Characterizing the cancer genome in lung adenocarcinoma. Nature. 2007;450:893-8 pubmed
    ..More generally, our results indicate that many of the genes that are involved in lung adenocarcinoma remain to be discovered. ..
  4. Palmer A, Kishony R. Understanding, predicting and manipulating the genotypic evolution of antibiotic resistance. Nat Rev Genet. 2013;14:243-8 pubmed publisher
  5. Himes B, Sheppard K, Berndt A, Leme A, Myers R, Gignoux C, et al. Integration of mouse and human genome-wide association data identifies KCNIP4 as an asthma gene. PLoS ONE. 2013;8:e56179 pubmed publisher
    ..Our results suggest that a useful approach to identify genes associated with human asthma is to leverage mouse AHR association data. ..
  6. Tyrrell J, Richmond R, Palmer T, Feenstra B, Rangarajan J, Metrustry S, et al. Genetic Evidence for Causal Relationships Between Maternal Obesity-Related Traits and Birth Weight. JAMA. 2016;315:1129-40 pubmed publisher
    ..If replicated, these findings may have implications for counseling and managing pregnancies to avoid adverse weight-related birth outcomes. ..
  7. Soni S, Bala S, Gwynn B, Sahr K, Peters L, Hanspal M. Absence of erythroblast macrophage protein (Emp) leads to failure of erythroblast nuclear extrusion. J Biol Chem. 2006;281:20181-9 pubmed
    ..The availability of an Emp null model provides a unique experimental system to study the enucleation process and to evaluate the function of macrophages in definitive erythropoiesis...
  8. Han J, Qureshi A, Nan H, Zhang J, Song Y, Guo Q, et al. A germline variant in the interferon regulatory factor 4 gene as a novel skin cancer risk locus. Cancer Res. 2011;71:1533-9 pubmed publisher
    ..6 × 10(-3)). Given that the T allele was shown previously to be associated with increased expression of IRF4 locus, further studies are warranted to elucidate the role of the IRF4 gene in human pigmentation and skin cancer development. ..
  9. Milton J, Sebastiani P, Solovieff N, Hartley S, Bhatnagar P, Arking D, et al. A genome-wide association study of total bilirubin and cholelithiasis risk in sickle cell anemia. PLoS ONE. 2012;7:e34741 pubmed publisher
    ..15 × 10(-4)). These results confirm that the UGT1A region is the major regulator of bilirubin metabolism in African Americans with sickle cell anemia, similar to what is observed in other ethnicities...

More Information

Publications388 found, 100 shown here

  1. Wong K, Chang S, Weiler S, Ganesan S, Chaudhuri J, Zhu C, et al. Telomere dysfunction impairs DNA repair and enhances sensitivity to ionizing radiation. Nat Genet. 2000;26:85-8 pubmed
    ..Our findings establish a intimate relationship between functionally intact telomeres and the genomic, cellular and organismal response to ionizing radiation. ..
  2. Pitteloud N, Quinton R, Pearce S, Raivio T, Acierno J, Dwyer A, et al. Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. J Clin Invest. 2007;117:457-63 pubmed
    ..Therefore, 2 different gene defects can synergize to produce a more severe phenotype in IHH families than either alone. This genetic model could account for some phenotypic heterogeneity seen in GnRH deficiency...
  3. Roffman J, Weiss A, Purcell S, Caffalette C, Freudenreich O, Henderson D, et al. Contribution of methylenetetrahydrofolate reductase (MTHFR) polymorphisms to negative symptoms in schizophrenia. Biol Psychiatry. 2008;63:42-8 pubmed
    ..Further, the biochemical interaction of low serum folate with 677T-variant MTHFR may induce downstream effects salient to the expression of negative symptoms. ..
  4. Biederman J, Kim J, Doyle A, Mick E, Fagerness J, Smoller J, et al. Sexually dimorphic effects of four genes (COMT, SLC6A2, MAOA, SLC6A4) in genetic associations of ADHD: a preliminary study. Am J Med Genet B Neuropsychiatr Genet. 2008;147B:1511-8 pubmed publisher
    ..Although our results are not fully validated yet, they should motivate further investigation of gender effects in ADHD genetic association studies. ..
  5. Sánchez Mora C, Ribases M, Ramos Quiroga J, Casas M, Bosch R, Boreatti Hümmer A, et al. Meta-analysis of brain-derived neurotrophic factor p.Val66Met in adult ADHD in four European populations. Am J Med Genet B Neuropsychiatr Genet. 2010;153B:512-523 pubmed publisher
    ..Despite the potential role of BDNF in ADHD, our data do not support the involvement of p.Val66Met in the pathogenesis of this neuropsychiatric disorder. ..
  6. VanDussen K, Liu T, Li D, Towfic F, Modiano N, Winter R, et al. Genetic variants synthesize to produce paneth cell phenotypes that define subtypes of Crohn's disease. Gastroenterology. 2014;146:200-9 pubmed publisher
    ..Histologic analysis of Paneth cell phenotypes can be used to divide patients with CD into subgroups with distinct pathognomonic and clinical features. ..
  7. Goodliffe J, Olmos Serrano J, Aziz N, Pennings J, Guedj F, Bianchi D, et al. Absence of Prenatal Forebrain Defects in the Dp(16)1Yey/+ Mouse Model of Down Syndrome. J Neurosci. 2016;36:2926-44 pubmed publisher
    ..Therefore, although this new model does not express prenatal morphological phenotypes associated with DS, abnormalities in the postnatal period appear sufficient to produce significant cognitive deficits in Dp16. ..
  8. Hiraike Y, Waki H, Yu J, Nakamura M, Miyake K, Nagano G, et al. NFIA co-localizes with PPARγ and transcriptionally controls the brown fat gene program. Nat Cell Biol. 2017;19:1081-1092 pubmed publisher
    ..These results indicate that NFIA activates the cell-type-specific enhancers and facilitates the binding of PPARγ to control the brown fat gene program. ..
  9. Grant F, Romero J, Jeunemaitre X, Hunt S, Hopkins P, Hollenberg N, et al. Low-renin hypertension, altered sodium homeostasis, and an alpha-adducin polymorphism. Hypertension. 2002;39:191-6 pubmed
    ..Homozygosity for this alpha-adducin allele may be an important determinant for approximately 10% of individuals with low-renin hypertension. ..
  10. Tranah G, Chan A, Giovannucci E, Ma J, Fuchs C, Hunter D. Epoxide hydrolase and CYP2C9 polymorphisms, cigarette smoking, and risk of colorectal carcinoma in the Nurses' Health Study and the Physicians' Health Study. Mol Carcinog. 2005;44:21-30 pubmed
  11. Dalkilic I, Schienda J, Thompson T, Kunkel L. Loss of FilaminC (FLNc) results in severe defects in myogenesis and myotube structure. Mol Cell Biol. 2006;26:6522-34 pubmed
    ..These data provide the first evidence that FLNc has a crucial role in muscle development and maintenance of muscle structural integrity and suggest the presence of a TRIO-FLNc-dependent pathway in maintaining proper myotube structure. ..
  12. Li J, Wang L, Mamon H, Kulke M, Berbeco R, Makrigiorgos G. Replacing PCR with COLD-PCR enriches variant DNA sequences and redefines the sensitivity of genetic testing. Nat Med. 2008;14:579-84 pubmed publisher
    ..COLD-PCR will transform the capabilities of PCR-based genetic testing, including applications in cancer, infectious diseases and prenatal identification of fetal alleles in maternal blood. ..
  13. Mignone L, Giovannucci E, Newcomb P, Titus Ernstoff L, Trentham Dietz A, Hampton J, et al. Meat consumption, heterocyclic amines, NAT2, and the risk of breast cancer. Nutr Cancer. 2009;61:36-46 pubmed publisher
    ..There were no statistically significant interactions with NAT2 genotype. Results do not support an important association of HCAs with breast cancer risk, although potential biases in case-control studies should be considered. ..
  14. Paredes R, Cheng I, Kuritzkes D, Tuomala R. Postpartum antiretroviral drug resistance in HIV-1-infected women receiving pregnancy-limited antiretroviral therapy. AIDS. 2010;24:45-53 pubmed publisher
    ..Triple-drug PLAT decreases the odds for M184V selection. Routine postpartum genotypic resistance testing may be useful to guide future treatment decisions in mothers. ..
  15. Kucherlapati M, Esfahani S, Habibollahi P, Wang J, Still E, Bronson R, et al. Genotype directed therapy in murine mismatch repair deficient tumors. PLoS ONE. 2013;8:e68817 pubmed publisher
    ..Pathways upregulated in some resistant tumors also include PDPK1, suggesting that metabolic inhibitors may also be useful in treating these tumors. ..
  16. Kris M, Johnson B, Berry L, Kwiatkowski D, Iafrate A, Wistuba I, et al. Using multiplexed assays of oncogenic drivers in lung cancers to select targeted drugs. JAMA. 2014;311:1998-2006 pubmed publisher
    ..The Lung Cancer Mutation Consortium was formed to perform multiplexed assays testing adenocarcinomas of the lung for drivers in 10 genes to enable clinicians to select targeted treatments and enroll patients into clinical trials...
  17. Chen Y, Sadow P, Suh H, Lee K, Choi J, Suh Y, et al. BRAF(V600E) Is Correlated with Recurrence of Papillary Thyroid Microcarcinoma: A Systematic Review, Multi-Institutional Primary Data Analysis, and Meta-Analysis. Thyroid. 2016;26:248-55 pubmed publisher
    ..BRAF mutation may be helpful in risk-stratifying patients with PTMC for surgical management versus observation. ..
  18. Hayek S, Koh K, Grams M, Wei C, Ko Y, Li J, et al. A tripartite complex of suPAR, APOL1 risk variants and ?v?3 integrin on podocytes mediates chronic kidney disease. Nat Med. 2017;23:945-953 pubmed publisher
    ..The synergy of circulating factor suPAR and APOL1 G1 or G2 on ?v?3 integrin activation is a mechanism for CKD. ..
  19. Schatz P, Riggs P, Jacq A, Fath M, Beckwith J. The secE gene encodes an integral membrane protein required for protein export in Escherichia coli. Genes Dev. 1989;3:1035-44 pubmed
    ..The data presented here and in the accompanying paper strongly suggest that secE has an important role in E. coli protein export. ..
  20. Setiawan V, Hankinson S, Colditz G, Hunter D, De Vivo I. HSD17B1 gene polymorphisms and risk of endometrial and breast cancer. Cancer Epidemiol Biomarkers Prev. 2004;13:213-9 pubmed
    ..05) was suggested. These findings suggest that the HSD17B1 may be associated with circulating estradiol levels and interact with body mass index in postmenopausal breast cancer. ..
  21. Levine R, Wadleigh M, Cools J, Ebert B, Wernig G, Huntly B, et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell. 2005;7:387-97 pubmed
    ..In vitro analysis demonstrated that JAK2V617F is a constitutively active tyrosine kinase. ..
  22. Smoller J, Biederman J, Arbeitman L, Doyle A, Fagerness J, Perlis R, et al. Association between the 5HT1B receptor gene (HTR1B) and the inattentive subtype of ADHD. Biol Psychiatry. 2006;59:460-7 pubmed
    ..These analyses suggest that variation in the HTR1B gene may primarily affect the inattentive subtype of ADHD. ..
  23. Prather D, Krogan N, Emili A, Greenblatt J, Winston F. Identification and characterization of Elf1, a conserved transcription elongation factor in Saccharomyces cerevisiae. Mol Cell Biol. 2005;25:10122-35 pubmed
    ..Finally, purification of Elf1 suggests an association with casein kinase II, previously implicated in roles in transcription. Together, these results suggest an important role for Elf1 in the regulation of transcription elongation. ..
  24. Hsu Y, Niu T, Song Y, Tinker L, Kuller L, Liu S. Genetic variants in the UCP2-UCP3 gene cluster and risk of diabetes in the Women's Health Initiative Observational Study. Diabetes. 2008;57:1101-7 pubmed publisher
    ..These data warrant further confirmation in future prospective and experimental studies. ..
  25. Raby B, Van Steen K, Lasky Su J, Tantisira K, Kaplan F, Weiss S. Importin-13 genetic variation is associated with improved airway responsiveness in childhood asthma. Respir Res. 2009;10:67 pubmed publisher
    ..The degree of this improvement is similar to that observed with long-term inhaled corticosteroid treatment, suggesting that IPO13 variation may improve nuclear bioavailability of endogenous glucocorticoids. ..
  26. MacLeod I, O Donnell B, Moyo S, Lockman S, Shapiro R, Kayembe M, et al. Prevalence of human papillomavirus genotypes and associated cervical squamous intraepithelial lesions in HIV-infected women in Botswana. J Med Virol. 2011;83:1689-95 pubmed publisher
    ..The associations attributed to specific oncogenic HPV subtypes and cervical squamous intraepithelial lesions presented here provide critical information to inform future vaccine policy within Botswana. ..
  27. Cahill L, Levy A, Chiuve S, Jensen M, Wang H, Shara N, et al. Haptoglobin genotype is a consistent marker of coronary heart disease risk among individuals with elevated glycosylated hemoglobin. J Am Coll Cardiol. 2013;61:728-37 pubmed publisher
    ..004), whereas the Hp2-2 genotype with HbA(1c) <6.5% was not associated with risk (relative risk: 1.34 [95% confidence interval: 0.73 to 2.46]). Hp genotype was a significant predictor of CHD among individuals with elevated HbA(1c). ..
  28. Wang L, Neuberg D, Christiani D. Asbestos exposure, manganese superoxide dismutase (MnSOD) genotype, and lung cancer risk. J Occup Environ Med. 2004;46:556-64 pubmed
    ..52-3.01) and no association (OR = 1.00; 95% CI = 0.36-2.73) among the "high" AES group. We observed no statistically significant interaction between MnSOD genotype and asbestos exposure for lung cancer risk. ..
  29. Kang J, Wiggs J, Rosner B, Haines J, Abdrabou W, Pasquale L. Endothelial nitric oxide synthase gene variants and primary open-angle glaucoma: interactions with hypertension, alcohol intake, and cigarette smoking. Arch Ophthalmol. 2011;129:773-80 pubmed publisher
    ..004). Interactions were not observed with alcohol intake. The associations between hypertension and cigarette smoking in relation to POAG depended on NOS3 SNPs. ..
  30. Hu M, Maroo S, Kyne L, Cloud J, Tummala S, Katchar K, et al. A prospective study of risk factors and historical trends in metronidazole failure for Clostridium difficile infection. Clin Gastroenterol Hepatol. 2008;6:1354-60 pubmed publisher
    ..Infection with the epidemic NAP-1 strain was not associated with metronidazole failure in endemic CDI. ..
  31. Staropoli J, Haliw L, Biswas S, Garrett L, Holter S, Becker L, et al. Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system. PLoS ONE. 2012;7:e38310 pubmed publisher
    ..These data highlight additional organ systems in which to study CLN3 function, and early phenotypes have been established in homozygous Cln3(?) (ex7/8) mice that merit further study for JNCL biomarker development. ..
  32. Perlis R, Ruderfer D, Hamilton S, Ernst C. Copy number variation in subjects with major depressive disorder who attempted suicide. PLoS ONE. 2012;7:e46315 pubmed publisher
    ..These data suggest potential CNVs to be investigated further in relation to suicide attempts in MD using large sample sizes. ..
  33. Day F, Ruth K, Thompson D, Lunetta K, Pervjakova N, Chasman D, et al. Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair. Nat Genet. 2015;47:1294-1303 pubmed publisher
    ..Mendelian randomization analyses supported a causal effect of later ANM on breast cancer risk (∼6% increase in risk per year; P = 3 × 10(-14)), likely mediated by prolonged sex hormone exposure rather than DDR mechanisms. ..
  34. Tishkoff D, Johnson A, Kolodner R. Molecular and genetic analysis of the gene encoding the Saccharomyces cerevisiae strand exchange protein Sep1. Mol Cell Biol. 1991;11:2593-608 pubmed
    ..The interaction between sep1, rad50, and spo13 mutations suggested that SEP1 acts in meiosis in a pathway that is parallel to the RAD50 pathway. ..
  35. Bohannon D, Sonenshein A. Positive regulation of glutamate biosynthesis in Bacillus subtilis. J Bacteriol. 1989;171:4718-27 pubmed
    ..In addition, the gltC gene product repressed its own transcription. The DNA sequence of gltC revealed that its putative product is very similar to a number of positive regulatory proteins from gram-negative bacteria (the LysR family). ..
  36. Cohen S, Levy S, Foulds J, Rosner J. Salicylate induction of antibiotic resistance in Escherichia coli: activation of the mar operon and a mar-independent pathway. J Bacteriol. 1993;175:7856-62 pubmed
    ..However, salicylate can also activate an unidentified, mar-independent pathway(s) which engenders multiple antibiotic resistance. ..
  37. Maas R, Elfering S, Glaser T, Jepeal L. Deficient outgrowth of the ureteric bud underlies the renal agenesis phenotype in mice manifesting the limb deformity (ld) mutation. Dev Dyn. 1994;199:214-28 pubmed
    ..However, since ld transcripts can be detected in both metanephric mesenchyme and ureteric bud, the molecular basis for the deficiency in ureteric bud outgrowth could reside in either component. ..
  38. Foster P, Rosche W. Increased episomal replication accounts for the high rate of adaptive mutation in recD mutants of Escherichia coli. Genetics. 1999;152:15-30 pubmed
  39. Ma X, Warram J, Trischitta V, Doria A. Genetic variants at the resistin locus and risk of type 2 diabetes in Caucasians. J Clin Endocrinol Metab. 2002;87:4407-10 pubmed
    ..However, our data suggest a synergistic effect of sequence differences at the resistin locus and obesity on risk of type 2 diabetes. Further studies are needed to confirm this finding in other populations. ..
  40. Cui J, Zhou X, Chazaro I, Destefano A, Manolis A, Baldwin C, et al. Association of polymorphisms in the promoter region of the PNMT gene with essential hypertension in African Americans but not in whites. Am J Hypertens. 2003;16:859-63 pubmed
    ..These results suggest that genetic variants of PNMT may play a role in the development of essential hypertension. ..
  41. Rakowski S, Winterkorn E, Paul E, Steele D, Halpern E, Thiele E. Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors. Kidney Int. 2006;70:1777-82 pubmed
  42. Zhang Y, Gottardo L, Thompson R, Powers C, Nolan D, Duffy J, et al. A visfatin promoter polymorphism is associated with low-grade inflammation and type 2 diabetes. Obesity (Silver Spring). 2006;14:2119-26 pubmed
    ..Our findings suggest that the visfatin/PBEF gene may play a role in determining T2D susceptibility, possibly by modulating chronic, low-grade inflammatory responses. ..
  43. Raychaudhuri S, Thomson B, Remmers E, Eyre S, Hinks A, Guiducci C, et al. Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk. Nat Genet. 2009;41:1313-8 pubmed publisher
    ..0008 replication, P = 4 x 10(-6) overall) and FCGR2A (rs12746613, P = 0.0022 replication, P = 2 x 10(-5) overall). Many of these loci are also associated to other immunologic diseases. ..
  44. Li J, Zou L, Zhou Y, Li L, Zhu Y, Yang Y, et al. A low-frequency variant in SMAD7 modulates TGF-? signaling and confers risk for colorectal cancer in Chinese population. Mol Carcinog. 2017;56:1798-1807 pubmed publisher
    ..The rs3764482 variant may block the TGF-? signaling via impeding the activation of downstream genes, leading to cancer cell proliferation, thus contributing to CRC pathogenesis. ..
  45. Larschan E, Winston F. The S. cerevisiae SAGA complex functions in vivo as a coactivator for transcriptional activation by Gal4. Genes Dev. 2001;15:1946-56 pubmed
    ..These results, taken together with previous studies, demonstrate a dependent pathway for the recruitment of TBP to GAL gene promoters consisting of the recruitment of SAGA by Gal4 and the subsequent recruitment of TBP by SAGA. ..
  46. Huang T, Lock J, Marshall A, Basson C, Seidman J, Seidman C. Causes of clinical diversity in human TBX5 mutations. Cold Spring Harb Symp Quant Biol. 2002;67:115-20 pubmed
  47. Smoller J, Rosenbaum J, Biederman J, Kennedy J, Dai D, Racette S, et al. Association of a genetic marker at the corticotropin-releasing hormone locus with behavioral inhibition. Biol Psychiatry. 2003;54:1376-81 pubmed
    ..These results are consistent with the possibility that variants in the CRH gene are associated with anxiety proneness. ..
  48. Ackerman K, Huang H, Grasemann H, Puma C, Singer J, Hill A, et al. Interacting genetic loci cause airway hyperresponsiveness. Physiol Genomics. 2005;21:105-11 pubmed
  49. Reynolds R, Hartnett M, Atkinson J, Giclas P, Rosner B, Seddon J. Plasma complement components and activation fragments: associations with age-related macular degeneration genotypes and phenotypes. Invest Ophthalmol Vis Sci. 2009;50:5818-27 pubmed publisher
    ..C5a is associated with AMD genotypes. C statistics are stronger with the addition of C3a, Bb, and C5a in predictive models. Results implicate ongoing activation of the alternative complement pathway in AMD pathogenesis. ..
  50. Cardarella S, Ortiz T, Joshi V, Butaney M, Jackman D, Kwiatkowski D, et al. The introduction of systematic genomic testing for patients with non-small-cell lung cancer. J Thorac Oncol. 2012;7:1767-1774 pubmed publisher
  51. Lemaitre R, Johnson C, Hesselson S, Sotoodehnia N, Sotoodhenia N, McKnight B, et al. Common variation in fatty acid metabolic genes and risk of incident sudden cardiac arrest. Heart Rhythm. 2014;11:471-7 pubmed publisher
    ..Further study is needed to validate this observation. ..
  52. Fathi A, Nahed B, Wander S, Iafrate A, Borger D, Hu R, et al. Elevation of Urinary 2-Hydroxyglutarate in IDH-Mutant Glioma. Oncologist. 2016;21:214-9 pubmed publisher
    ..Similar elevations were not identified in the serum or cerebrospinal fluid. 2-Hydroxyglutarate may serve as a useful, noninvasive biomarker to stratify patients newly diagnosed with glioma with regard to prognosis and management. ..
  53. Penney K, Pettersson A, Shui I, Graff R, Kraft P, Lis R, et al. Association of Prostate Cancer Risk Variants with TMPRSS2:ERG Status: Evidence for Distinct Molecular Subtypes. Cancer Epidemiol Biomarkers Prev. 2016;25:745-9 pubmed publisher
    ..When examining risk factors for prostate cancer, the integration of molecular subtypes may enhance understanding of the etiology of this disease. Cancer Epidemiol Biomarkers Prev; 25(5); 745-9. ©2016 AACR. ..
  54. Zhu Y, Lin E. L-1,2-propanediol exits more rapidly than L-lactaldehyde from Escherichia coli. J Bacteriol. 1989;171:862-7 pubmed
    ..The inner cell membrane therefore appears to be much more permeable to the 3-carbon alcohol than to the 3-carbon aldehyde. The almost instantaneous exit of propanediol appears to be a facilitated process. ..
  55. Peter I, Shearman A, Vasan R, Zucker D, Schmid C, Demissie S, et al. Association of estrogen receptor beta gene polymorphisms with left ventricular mass and wall thickness in women. Am J Hypertens. 2005;18:1388-95 pubmed
    ..These data are consistent with the hypothesis that genetic factors may mediate part of the observed sex-based differences in LV structure and remodeling. ..
  56. Reich D, Thangaraj K, Patterson N, Price A, Singh L. Reconstructing Indian population history. Nature. 2009;461:489-94 pubmed publisher
    ..We therefore predict that there will be an excess of recessive diseases in India, which should be possible to screen and map genetically. ..
  57. Kirby A, Kang H, Wade C, Cotsapas C, Kostem E, Han B, et al. Fine mapping in 94 inbred mouse strains using a high-density haplotype resource. Genetics. 2010;185:1081-95 pubmed publisher
    ..We expect that these resources will facilitate effective designs of both human and mouse studies for dissecting the genetic basis of complex traits. ..
  58. Chang S, Koenen K, Galea S, Aiello A, Soliven R, Wildman D, et al. Molecular variation at the SLC6A3 locus predicts lifetime risk of PTSD in the Detroit Neighborhood Health Study. PLoS ONE. 2012;7:e39184 pubmed publisher
  59. Jacobson L. Lower weight loss and food intake in protein-deprived, corticotropin releasing hormone-deficient mice correlate with glucocorticoid insufficiency. Endocrinology. 1999;140:3543-51 pubmed
    ..We conclude that differences in feeding and metabolic responses to protein deprivation between WT and CRH KO mice are primarily attributable to glucocorticoid insufficiency. ..
  60. Oliveira L, Seminara S, Beranova M, Hayes F, Valkenburgh S, Schipani E, et al. The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics. J Clin Endocrinol Metab. 2001;86:1532-8 pubmed
    ..Taken together, these findings suggest that autosomal genes account for the majority of familial cases of KS, and that unique neuroendocrine phenotypes consistent with some GnRH neuronal migration may exist in these patients. ..
  61. Zhai R, Liu G, Yang C, Huang C, Wu C, Christiani D. The G to C polymorphism at -174 of the interleukin-6 gene is rare in a Southern Chinese population. Pharmacogenetics. 2001;11:699-701 pubmed
    ..Only one GC heterozygous and no CC homozygous variants were found. Our results suggest that the frequency of the C allele in this Chinese population is lower than in Caucasian and east Indian populations. ..
  62. De Vivo I, Hankinson S, Li L, Colditz G, Hunter D. Association of CYP1B1 polymorphisms and breast cancer risk. Cancer Epidemiol Biomarkers Prev. 2002;11:489-92 pubmed
    ..Carriers of the m1 leu and m2 ser alleles had modestly higher estradiol levels but similar estrone and estrone sulfate levels. The results presented do not support a strong association between m1 and m2 and the risk of breast cancer. ..
  63. Zigman J, Nakano Y, Coppari R, Balthasar N, Marcus J, Lee C, et al. Mice lacking ghrelin receptors resist the development of diet-induced obesity. J Clin Invest. 2005;115:3564-72 pubmed
    ..Moreover, our data suggest that ghrelin signaling is required for development of the full phenotype of diet-induced obesity. ..
  64. Wilk J, Herbert A, Shoemaker C, Gottlieb D, Karamohamed S. Secreted modular calcium-binding protein 2 haplotypes are associated with pulmonary function. Am J Respir Crit Care Med. 2007;175:554-60 pubmed
    ..03; FVC, p = 0.03). The replication of the association in two populations supports the possibility that SMOC2 might play an important role in the determination of FEV(1) and FVC. ..
  65. Shui I, Stark J, Penney K, Schumacher F, Epstein M, Pitt M, et al. Genetic variation in the toll-like receptor 4 and prostate cancer incidence and mortality. Prostate. 2012;72:209-16 pubmed publisher
    ..Results from this prospective nested case-control study suggest that genetic variation across TLR4 alone is not strongly associated with prostate cancer risk or mortality. ..
  66. Li J, Kuritzkes D. Clinical implications of HIV-1 minority variants. Clin Infect Dis. 2013;56:1667-74 pubmed publisher
    ..Additional studies are needed to determine the optimal platform for clinical application of these new technologies and to provide guidance to clinicians on the type and frequency of clinically important HIV-1 minority variants. ..
  67. Qian J, Wolters F, Beiser A, Haan M, Ikram M, Karlawish J, et al. APOE-related risk of mild cognitive impairment and dementia for prevention trials: An analysis of four cohorts. PLoS Med. 2017;14:e1002254 pubmed publisher
  68. Pu W, Wickman K, Clapham D. ICln is essential for cellular and early embryonic viability. J Biol Chem. 2000;275:12363-6 pubmed
    ..Collectively, these data strongly suggest that pICln participates in critical cellular pathways, including regulation of the cell cycle and RNA processing. ..
  69. Holm I, Nelson A, Robinson B, Mason R, Marsh D, Cowell C, et al. Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets. J Clin Endocrinol Metab. 2001;86:3889-99 pubmed
    ..Furthermore, this study suggests that other genes and environmental factors affect the severity of hypophosphatemic rickets. ..
  70. Iakoubova O, Dushkin H, Pacella L, Beier D. Genetic analysis of modifying loci on mouse chromosome 1 that affect disease severity in a model of recessive PKD. Physiol Genomics. 1999;1:101-5 pubmed
    ..This hypothesis is supported by the demonstration that severe PKD occurs in mice carrying a large congenic interval...
  71. Neufeld E, Fleming J, Tartaglini E, Steinkamp M. Thiamine-responsive megaloblastic anemia syndrome: a disorder of high-affinity thiamine transport. Blood Cells Mol Dis. 2001;27:135-8 pubmed
    ..Here we review the current status of studies aimed at understanding the pathophysiology of this unique transport defect. ..
  72. Nelson H, Kelsey K, Mott L, Karagas M. The XRCC1 Arg399Gln polymorphism, sunburn, and non-melanoma skin cancer: evidence of gene-environment interaction. Cancer Res. 2002;62:152-5 pubmed
    ..These data, using the classic skin carcinogenesis model, provide new insight on the role of the XRCC1 399 polymorphism in neoplasia and may help explain the conflicting results relating this polymorphism to cancer risk at various sites...
  73. Balakrishnan V, Guo D, Rao M, Jaber B, Tighiouart H, Freeman R, et al. Cytokine gene polymorphisms in hemodialysis patients: association with comorbidity, functionality, and serum albumin. Kidney Int. 2004;65:1449-60 pubmed
  74. Kuraguchi M, Wang X, Bronson R, Rothenberg R, Ohene Baah N, Lund J, et al. Adenomatous polyposis coli (APC) is required for normal development of skin and thymus. PLoS Genet. 2006;2:e146 pubmed
  75. Costenbader K, Chang S, De Vivo I, Plenge R, Karlson E. Genetic polymorphisms in PTPN22, PADI-4, and CTLA-4 and risk for rheumatoid arthritis in two longitudinal cohort studies: evidence of gene-environment interactions with heavy cigarette smoking. Arthritis Res Ther. 2008;10:R52 pubmed publisher
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    ..The risk of skin cancer is increased in individuals with the Pro/Pro genotype. Larger, confirmatory studies are needed to clarify the role of constitutional polymorphisms in p53 and skin cancer risk. ..
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    ..These results suggest that the germline variants in HSD17B1 characterized by these htSNPs do not substantially influence the risk of prostate cancer in U.S. and European whites. ..
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