Genomes and Genes
Experts and Doctors on genotype in Boston, Massachusetts, United States
Locale: Boston, Massachusetts, United States
Publications388 found, 100 shown here
- 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. ..
- 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...
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- Hiraike Y, Waki H, Yu J, Nakamura M, Miyake K, Nagano G, et al. NFIA co-localizes with PPARÎ³ 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 PPARÎ³ to control the brown fat gene program. ..
- 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. ..
- 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
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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...
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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). ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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). ..
- 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. ..
- 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. ..
- 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
- 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. ..
- 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. ..
- 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
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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
- 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. ..
- 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
- 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. ..
- 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. ..
- 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. ..
- 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. Â©2016 AACR. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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...
- 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. ..
- 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...
- 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
- 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
- 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..After adjusting for smoking and reproductive factors, PTPN22 was associated with RA risk among Caucasian women in these cohorts. We found both additive and multiplicative interactions between PTPN22 and heavy cigarette smoking. ..
- Sharma N, Franco R, Kuster J, Mitchell A, Fuchs T, Saunders Pullman R, et al. Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia. Mov Disord. 2010;25:2183-7 pubmed publisher..In contrast, we did not find an association of either allele at the D216H SNP (rs1801968) with focal or segmental dystonia in the same cohort. ..
- Naylor M, Weiss S, Lange C. A Bayesian approach to genetic association studies with family-based designs. Genet Epidemiol. 2010;34:569-74 pubmed publisher..We then applied the approach to a genome-wide association scan to search for associations between single nucleotide polymorphisms and body mass index in the Childhood Asthma Management Program data. ..
- Franke L, el Bannoudi H, Jansen D, Kok K, Trynka G, Diogo D, et al. Association analysis of copy numbers of FC-gamma receptor genes for rheumatoid arthritis and other immune-mediated phenotypes. Eur J Hum Genet. 2016;24:263-70 pubmed publisher..In conclusion, our method allows determining the CNV status of the FCGR locus, we identified association of CNV in FCGR3B to RA and showed a functional relationship between CNV in the FCGR3A gene and CD16A expression. ..
- Gastier J, Brody T, Pulido J, Businga T, Sunden S, Hu X, et al. Development of a screening set for new (CAG/CTG)n dynamic mutations. Genomics. 1996;32:75-85 pubmed..The 141 STSs that were developed based on (CAG/CTG)n repeats of at least seven units were genotyped on four reference CEPH individuals to estimate their polymorphic quality. ..
- Xu L, Wain J, Miller D, Thurston S, Su L, Lynch T, et al. The NAD(P)H:quinone oxidoreductase 1 gene polymorphism and lung cancer: differential susceptibility based on smoking behavior. Cancer Epidemiol Biomarkers Prev. 2001;10:303-9 pubmed..Our results support the concept that differential susceptibility to lung cancer is a function of both an inheritable trait in NQO1 metabolism and individual smoking characteristics. ..
- Shiojima I, Yefremashvili M, Luo Z, Kureishi Y, Takahashi A, Tao J, et al. Akt signaling mediates postnatal heart growth in response to insulin and nutritional status. J Biol Chem. 2002;277:37670-7 pubmed
- Chen Y, Xu L, Guo Y, Su H, Hsueh Y, Smith T, et al. Genetic polymorphism in p53 codon 72 and skin cancer in southwestern Taiwan. J Environ Sci Health A Tox Hazard Subst Environ Eng. 2003;38:201-11 pubmed..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. ..
- Kos C, Le T, Sinha S, Henderson J, Kim S, Sugimoto H, et al. Mice deficient in alpha-actinin-4 have severe glomerular disease. J Clin Invest. 2003;111:1683-90 pubmed..In addition, these genetic studies demonstrate that the nonsarcomeric alpha-actinin-4 is involved in the regulation of cell movement. ..
- Kraft P, Pharoah P, Chanock S, Albanes D, Kolonel L, Hayes R, et al. Genetic variation in the HSD17B1 gene and risk of prostate cancer. PLoS Genet. 2005;1:e68 pubmed..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. ..
- Moran J, Qiu H, Turbe Doan A, Yun Y, Boeglin W, Brash A, et al. A mouse mutation in the 12R-lipoxygenase, Alox12b, disrupts formation of the epidermal permeability barrier. J Invest Dermatol. 2007;127:1893-7 pubmed..The mummy mutant provides a mouse model for LOX-mediated NCIE and is the first described mouse mutant affecting epidermal barrier formation identified by forward genetics. ..
- Gross J, Borowsky R, Tabin C. A novel role for Mc1r in the parallel evolution of depigmentation in independent populations of the cavefish Astyanax mexicanus. PLoS Genet. 2009;5:e1000326 pubmed publisher..This example of parallelism indicates that certain genes are frequent targets of mutation in the repeated evolution of regressive phenotypes in cave-adapted species. ..
- Gu F, Schumacher F, Canzian F, Allen N, Albanes D, Berg C, et al. Eighteen insulin-like growth factor pathway genes, circulating levels of IGF-I and its binding protein, and risk of prostate and breast cancer. Cancer Epidemiol Biomarkers Prev. 2010;19:2877-87 pubmed publisher..Further studies are needed to explore contributions from other genetic factors such as rare variants in these genes and variation outside of these genes. ..
- Lau D, Negash A, Chen J, Crochet N, Sinha M, Zhang Y, et al. Innate immune tolerance and the role of kupffer cells in differential responses to interferon therapy among patients with HCV genotype 1 infection. Gastroenterology. 2013;144:402-413.e12 pubmed publisher..Strategies to disrupt the virus-host interactions that induce innate immune tolerance should improve therapy. ..
- Geerling J, Kim M, Mahoney C, Abbott S, Agostinelli L, Garfield A, et al. Genetic identity of thermosensory relay neurons in the lateral parabrachial nucleus. Am J Physiol Regul Integr Comp Physiol. 2016;310:R41-54 pubmed publisher..These findings improve our understanding of LPB organization and reveal that Pdyn-IRES-Cre mice provide genetic access to warm-activated, FoxP2+ glutamatergic neurons in PBdL, many of which project to the hypothalamus. ..
- Hoffman C, Winston F. Glucose repression of transcription of the Schizosaccharomyces pombe fbp1 gene occurs by a cAMP signaling pathway. Genes Dev. 1991;5:561-71 pubmed..Additional experiments demonstrate that this cAMP signaling pathway is independent of the S. pombe ras1 gene and works by activation of cAMP-dependent protein kinase. ..
- Su L, Liu G, Zhou W, Xu L, Miller D, Park S, et al. No association between the p21 codon 31 serine-arginine polymorphism and lung cancer risk. Cancer Epidemiol Biomarkers Prev. 2003;12:174-5 pubmed
- Araki S, Ng D, Krolewski B, Wyrwicz L, Rogus J, Canani L, et al. Identification of a common risk haplotype for diabetic nephropathy at the protein kinase C-beta1 (PRKCB1) gene locus. J Am Soc Nephrol. 2003;14:2015-24 pubmed..It is concluded that DNA sequence differences in the promoter of PRKCB1 contribute to diabetic nephropathy susceptibility in type I diabetes mellitus. ..