Genomes and Genes
Experts and Doctors on genotype in Nashville, Tennessee, United States
Locale: Nashville, Tennessee, United States
Publications225 found, 100 shown here
- Parker R, Laut C, Gaddy J, Zadoks R, Davies H, Manning S. Association between genotypic diversity and biofilm production in group B Streptococcus. BMC Microbiol. 2016;16:86 pubmed publisher..The findings herein also demonstrate that biofilms must be considered in the treatment of pregnant women, particularly for women with heavy GBS colonization. ..
- Cui Y, Shu X, Cai Q, Jin F, Cheng J, Cai H, et al. Association of breast cancer risk with a common functional polymorphism (Asp327Asn) in the sex hormone-binding globulin gene. Cancer Epidemiol Biomarkers Prev. 2005;14:1096-101 pubmed..05). This study suggests that the Asn allele in the SHBG gene may be related to a reduced risk of breast cancer among postmenopausal women by increasing their blood SHBG levels. ..
- Campbell D, Lange L, Skelly T, Lieberman J, Levitt P, Sullivan P. Association of RGS2 and RGS5 variants with schizophrenia symptom severity. Schizophr Res. 2008;101:67-75 pubmed publisher..RGS2 and RGS5 genotypes predicted severity of baseline symptoms in schizophrenia. Although these analyses are exploratory and replication is required, these data suggest a possible role for multiple RGS proteins in schizophrenia. ..
- Delaney J, Ramirez A, Bowton E, Pulley J, Basford M, Schildcrout J, et al. Predicting clopidogrel response using DNA samples linked to an electronic health record. Clin Pharmacol Ther. 2012;91:257-63 pubmed publisher..Our data do not show an association between PON1 and recurrent cardiovascular events. ..
- Pattaro C, Teumer A, Gorski M, Chu A, Li M, Mijatovic V, et al. Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. Nat Commun. 2016;7:10023 pubmed publisher..These findings suggest that genetic determinants of eGFR are mediated largely through direct effects within the kidney and highlight important cell types and biological pathways. ..
- Muszkat M, Kurnik D, Solus J, Sofowora G, Xie H, Jiang L, et al. Variation in the alpha2B-adrenergic receptor gene (ADRA2B) and its relationship to vascular response in vivo. Pharmacogenet Genomics. 2005;15:407-14 pubmed..We have described novel variants and haplotypes of the ADRA2B gene. These do not alter sensitivity to a selective alpha2-adrenergic receptor agonist but some may decrease maximal venoconstriction in vivo. ..
- Spencer K, Hauser M, Olson L, Schmidt S, Scott W, Gallins P, et al. Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration. Hum Mol Genet. 2007;16:1986-92 pubmed..21, 95% confidence interval 0.11-0.39; P < 10(-4)). Likelihood ratio testing and conditional analyses in the case-control data set suggest that a weaker, independent protective effect exists for CC2 E318D. ..
- Lee S, Fowke J, Lu W, Ye C, Zheng Y, Cai Q, et al. Cruciferous vegetables, the GSTP1 Ile105Val genetic polymorphism, and breast cancer risk. Am J Clin Nutr. 2008;87:753-60 pubmed..08; 95% CI = 1.20, 3.59). Cruciferous vegetable intake consistent with high isothiocyanate exposure may reduce breast cancer risk. Cruciferous vegetable intake also may ameliorate the effects of the GSTP1 genotype. ..
- Chopra S, Stroud D, Watanabe H, Bennett J, Burns C, Wells K, et al. Voltage-gated sodium channels are required for heart development in zebrafish. Circ Res. 2010;106:1342-50 pubmed publisher..These findings identify a novel and possibly nonelectrogenic role for cardiac sodium channels in heart development. ..
- Deming Y, Li Z, Kapoor M, Harari O, Del Aguila J, Black K, et al. Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers. Acta Neuropathol. 2017;133:839-856 pubmed publisher..009, respectively) and the INPP5D locus may affect ptau181 levels (P = 0.009); larger studies are necessary to verify these results. Together the findings from this study can be used to inform future AD studies. ..
- Breyer J, Dorset D, Clark T, Bradley K, Wahlfors T, McReynolds K, et al. An expressed retrogene of the master embryonic stem cell gene POU5F1 is associated with prostate cancer susceptibility. Am J Hum Genet. 2014;94:395-404 pubmed publisher..We further observe that POU5F1 expression is directly correlated with POU5F1B expression. Our results suggest that a pathway critical to self-renewal of embryonic stem cells may also have a role in the origin of cancer. ..
- Balasubramanian M, Feoktistova A, McCollum D, Gould K. Fission yeast Sop2p: a novel and evolutionarily conserved protein that interacts with Arp3p and modulates profilin function. EMBO J. 1996;15:6426-37 pubmed..Collectively these data demonstrate the interaction of Sop2p with Arp3p, profilin and actin. ..
- Sofowora G, Dishy V, Muszkat M, Xie H, Kim R, Harris P, et al. A common beta1-adrenergic receptor polymorphism (Arg389Gly) affects blood pressure response to beta-blockade. Clin Pharmacol Ther. 2003;73:366-71 pubmed..There is reduced sensitivity of Gly389 homozygotes to a beta-adrenergic receptor antagonist, and this polymorphism may be an important determinant of variability in response to beta-blockade. ..
- Canter J, Haas D, Kallianpur A, Ritchie M, Robbins G, Shafer R, et al. The mitochondrial pharmacogenomics of haplogroup T: MTND2*LHON4917G and antiretroviral therapy-associated peripheral neuropathy. Pharmacogenomics J. 2008;8:71-7 pubmed..5 (95% CI 1.6-18.7) P<0.01). When 4917G individuals were excluded from the analysis, the association with 4216C was no longer seen. The mitochondrial 4917G polymorphism may increase susceptibility to NRTI-associated PN. ..
- Campbell D, D Oronzio R, Garbett K, Ebert P, Mirnics K, Levitt P, et al. Disruption of cerebral cortex MET signaling in autism spectrum disorder. Ann Neurol. 2007;62:243-50 pubmed..The complement of genes that encode proteins involved in MET activation appears to undergo long-term compensatory changes in expression that may be a hallmark contribution to the pathophysiology of ASD. ..
- Denny J, Ritchie M, Crawford D, Schildcrout J, Ramirez A, Pulley J, et al. Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science. Circulation. 2010;122:2016-21 pubmed publisher..This study is one of the first replication genome-wide association studies performed with the use of an electronic medical records-derived cohort, supporting their further use for genotype-phenotype analyses. ..
- Vogtmann E, Xiang Y, Li H, Cai Q, Wu Q, Xie L, et al. Cruciferous vegetables, glutathione S-transferase polymorphisms, and the risk of colorectal cancer among Chinese men. Ann Epidemiol. 2014;24:44-9 pubmed publisher..This study provides no evidence supporting the involvement of CV intake in the development of CRC in Chinese men. ..
- Lu H, Shu X, Cui Y, Kataoka N, Wen W, Cai Q, et al. Association of genetic polymorphisms in the VEGF gene with breast cancer survival. Cancer Res. 2005;65:5015-9 pubmed..1; 95% CI, -0.9 to 4.7). The C+936T polymorphism alone was not related to overall or disease-free survival. This study suggests that VEGF polymorphisms may be a significant genetic marker for breast cancer prognosis. ..
- Sile S, Velez D, Gillani N, Alexander C, Alexander C, George A, et al. Haplotype diversity in four genes (CLCNKA, CLCNKB, BSND, NEDD4L) involved in renal salt reabsorption. Hum Hered. 2008;65:33-46 pubmed..Haplotype diversity in hypertension candidate genes has important implications for designing and evaluating candidate gene or genome-wide blood pressure association studies that consider these genes. ..
- Friedman E, Harris P, Wood A, Stein C, Kurnik D. The alpha2C-adrenoceptor deletion322-325 variant and cold-induced vasoconstriction. Clin Auton Res. 2009;19:247-54 pubmed publisher..5 +/- 4.7, 22.1 +/- 4.0, and 20.8 +/- 6.7 degrees C; P = 0.77) in either the first or second heating and cooling cycle (cycle 1 values presented). The ADRA2C del322-325 variant did not affect vascular sensitivity to local cold exposure. ..
- Siddiqui R, Lakhundi S, Iqbal J, Khan N. Effect of non-steroidal anti-inflammatory drugs on biological properties of Acanthamoeba castellanii belonging to the T4 genotype. Exp Parasitol. 2016;168:45-50 pubmed publisher..As NSAIDs are routinely used in the clinical practice, these findings may help design improved preventative strategies and/or of therapeutic value to improve prognosis, when used in combination with other anti-amoebic drugs. ..
- Muszkat M, Sofowora G, Xie H, Wood A, Stein C. Alpha2B adrenergic receptor 301-303 deletion polymorphism and vascular alpha2 adrenergic receptor response. Pharmacogenet Genomics. 2005;15:23-8 pubmed..2+/-12.9% in del/del subjects (P=0.26). These findings suggest that the del301-303 polymorphism does not contribute significantly to interindividual in vivo variability in response to alpha2-AR activation in the hand vein. ..
- Denny J, Ritchie M, Basford M, Pulley J, Bastarache L, Brown Gentry K, et al. PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations. Bioinformatics. 2010;26:1205-10 pubmed publisher..The PheWAS software and code translation table are freely available at http://knowledgemap.mc.vanderbilt.edu/research. ..
- Gu Y, Lindner J, Kumar A, Yuan W, Magnuson M. Rictor/mTORC2 is essential for maintaining a balance between beta-cell proliferation and cell size. Diabetes. 2011;60:827-37 pubmed publisher..The phosphorylation of AKT-S473, by negatively regulating that of AKT-T308, is essential for maintaining a balance between ?-cell proliferation and cell size in response to proliferative stimuli. ..
- Wen W, Cai Q, Shu X, Cheng J, Parl F, Pierce L, et al. Cytochrome P450 1B1 and catechol-O-methyltransferase genetic polymorphisms and breast cancer risk in Chinese women: results from the shanghai breast cancer study and a meta-analysis. Cancer Epidemiol Biomarkers Prev. 2005;14:329-35 pubmed..The results from this study were consistent with those from most previous studies, indicating no major associations of breast cancer risk with CYP1B1 and COMT polymorphisms. ..
- Shrubsole M, Shu X, Ruan Z, Cai Q, Cai H, Niu Q, et al. MTHFR genotypes and breast cancer survival after surgery and chemotherapy: a report from the Shanghai Breast Cancer Study. Breast Cancer Res Treat. 2005;91:73-9 pubmed..97, 95% CI: 1.10-7.98, p for trend=0.04). The A1298C genotypes were not significantly associated with risk of death. This study suggests that the MTHFR C677T polymorphisms may affect long-term survival from advanced breast cancer. ..
- Haines J, Schnetz Boutaud N, Schmidt S, Scott W, Agarwal A, Postel E, et al. Functional candidate genes in age-related macular degeneration: significant association with VEGF, VLDLR, and LRP6. Invest Ophthalmol Vis Sci. 2006;47:329-35 pubmed..02) datasets. VLDLR showed evidence of association in both the family based (P = 0.03) and case-control (P = 0.01) datasets. These data suggest that LRP6, VEGF, and VLDLR may play a role in the risk of developing AMD. ..
- Haas D, Bartlett J, Andersen J, Sanne I, Wilkinson G, Hinkle J, et al. Pharmacogenetics of nevirapine-associated hepatotoxicity: an Adult AIDS Clinical Trials Group collaboration. Clin Infect Dis. 2006;43:783-6 pubmed..Among participants in a randomized study in South Africa (FTC-302), MDR1 3435C-->T was significantly associated with decreased risk of hepatotoxicity (risk ratio, 0.30; P=.016). ..
- Darbar D, Motsinger A, Ritchie M, Gainer J, Roden D. Polymorphism modulates symptomatic response to antiarrhythmic drug therapy in patients with lone atrial fibrillation. Heart Rhythm. 2007;4:743-9 pubmed..005, II vs. ID/DD). These results provide further evidence for a role of RAAS activation in the pathophysiology of AF and point to a potential role for stratification of therapeutic approaches by ACE genotype. ..
- Canter J, Norris P, Moore J, Jenkins J, Morris J. Specific polymorphic variation in the mitochondrial genome and increased in-hospital mortality after severe trauma. Ann Surg. 2007;246:406-11; discussion 411-4 pubmed..Variation in the mtDNA, specifically the 4216T allele, appears to increase the risk of in-hospital mortality after severe injury. ..
- Sterling T, Martire T, de Almeida A, Ding L, Greenberg D, Moreira L, et al. Immune function in young children with previous pulmonary or miliary/meningeal tuberculosis and impact of BCG vaccination. Pediatrics. 2007;120:e912-21 pubmed..BCG vaccine protects against miliary/meningeal tuberculosis, but the mechanism of protection is unknown. We assessed for abnormalities in immune response associated with miliary/meningeal or pulmonary tuberculosis in young children...
- Williams J, Edwards K, Weinberg G, Griffin M, Hall C, Zhu Y, et al. Population-based incidence of human metapneumovirus infection among hospitalized children. J Infect Dis. 2010;201:1890-8 pubmed publisher..HPMV infection was most prominent from March through May. HMPV was detected in 3.8% of children hospitalized with ARI or fever, with a population incidence similar to that of influenza virus and parainfluenza virus 3. ..
- Crawford D, Brown Gentry K, Rieder M. VKORC1 common variation and bone mineral density in the Third National Health and Nutrition Examination Survey. PLoS ONE. 2010;5:e15088 pubmed publisher..This is the first report of VKORC1 common genetic variation associated with BMD, and one of the few reports available that investigate the genetics of BMD and osteoporosis in diverse populations. ..
- Sitaram P, Merkle J, Lee E, Lee L. asunder is required for dynein localization and dorsal fate determination during Drosophila oogenesis. Dev Biol. 2014;386:42-52 pubmed publisher..Taken together, our data indicate that asun is a critical regulator of dynein localization and dynein-mediated processes during Drosophila oogenesis. ..
- Cantu E, Suzuki Y, Diamond J, Ellis J, Tiwari J, Beduhn B, et al. Protein Quantitative Trait Loci Analysis Identifies Genetic Variation in the Innate Immune Regulator TOLLIP in Post-Lung Transplant Primary Graft Dysfunction Risk. Am J Transplant. 2016;16:833-40 pubmed publisher..A protein quantitative trait analysis for PGD risk prioritizes genetic variations in TOLLIP and supports a role for Toll-like receptors in PGD pathogenesis. ..
- Long J, Shu X, Cai Q, Gao Y, Zheng Y, Li G, et al. Evaluation of breast cancer susceptibility loci in Chinese women. Cancer Epidemiol Biomarkers Prev. 2010;19:2357-65 pubmed publisher..Findings from this study may help guide future fine-mapping studies to identify causal variants for breast cancer. ..
- Israel D, Lou A, Blaser M. Characteristics of Helicobacter pylori natural transformation. FEMS Microbiol Lett. 2000;186:275-80 pubmed..pylori and Helicobacter bilis) but not Escherichia coli suggests specificity based on DNA source. Finally, the cag island was determined to be unnecessary for high-frequency transformation. ..
- Marlow F, Gonzalez E, Yin C, Rojo C, Solnica Krezel L. No tail co-operates with non-canonical Wnt signaling to regulate posterior body morphogenesis in zebrafish. Development. 2004;131:203-16 pubmed..Moreover, we provide genetic evidence for the notion that tail development entails a continuation of mechanisms regulating gastrulation together with mechanisms unique to the posterior body. ..
- Wen W, Ren Z, Shu X, Cai Q, Ye C, Gao Y, et al. Expression of cytochrome P450 1B1 and catechol-O-methyltransferase in breast tissue and their associations with breast cancer risk. Cancer Epidemiol Biomarkers Prev. 2007;16:917-20 pubmed..These results support the hypothesis that the formation and accumulation of catechol estrogens in breast tissue through increased CYP1B1 expression and reduced COMT expression may play a significant role in breast cancer risk. ..
- Ryckman K, Simhan H, Krohn M, Williams S. Predicting risk of bacterial vaginosis: the role of race, smoking and corticotropin-releasing hormone-related genes. Mol Hum Reprod. 2009;15:131-7 pubmed publisher..04 for both). These data indicate that susceptibility to BV is affected by patterns of genetic variation in stress-related genes and smoking plays an important role. ..
- Denny J, Crawford D, Ritchie M, Bielinski S, Basford M, Bradford Y, et al. Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies. Am J Hum Genet. 2011;89:529-42 pubmed publisher..Our findings indicate that EMR-linked genomic data could allow discovery of genes associated with many diseases without additional genotyping cost. ..
- Kuchtey J, Chowdhury U, Uptegraft C, Fautsch M, Kuchtey R. A de novo MYOC mutation detected in juvenile open angle glaucoma associated with reduced myocilin protein in aqueous humor. Eur J Med Genet. 2013;56:292-6 pubmed publisher..Our results using human patient samples are consistent with a dominant-negative effect of pathogenic MYOC mutations on myocilin secretion. ..
- Huang A, Yu D, Davis L, Sul J, Tsetsos F, Ramensky V, et al. Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome. Neuron. 2017;94:1101-1111.e7 pubmed publisher..3, 95% CI [2.6-156.2]; CNTN6 duplications, OR = 10.1, 95% CI [2.3-45.4]). Approximately 1% of TS cases carry one of these CNVs, indicating that rare structural variation contributes significantly to the genetic architecture of TS. ..
- Plunkett J, Doniger S, Orabona G, Morgan T, Haataja R, Hallman M, et al. An evolutionary genomic approach to identify genes involved in human birth timing. PLoS Genet. 2011;7:e1001365 pubmed publisher..We anticipate other human accelerated genes will similarly be associated with preterm birth risk and elucidate essential pathways for human parturition. ..
- Cogan J, Wu W, Phillips J, Arnhold I, Agapito A, Fofanova O, et al. The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency. J Clin Endocrinol Metab. 1998;83:3346-9 pubmed..Analysis of this marker in affected subjects with the 301-302delAG deletion suggests that rather than being inherited from a common founder, the 301-302delAG may be a recurring mutation. ..
- Muraoka R, Lenferink A, Simpson J, Brantley D, Roebuck L, Yakes F, et al. Cyclin-dependent kinase inhibitor p27(Kip1) is required for mouse mammary gland morphogenesis and function. J Cell Biol. 2001;153:917-32 pubmed..Therefore, p27 is required for mammary gland development in a dose-dependent fashion and positively regulates cyclin D-Cdk4 function in the mammary gland. ..
- Woodward N, Jayathilake K, Meltzer H. COMT val108/158met genotype, cognitive function, and cognitive improvement with clozapine in schizophrenia. Schizophr Res. 2007;90:86-96 pubmed..The results are discussed in relation to previous cross-sectional studies and prospective investigations of the associations between COMT genotype, cognition, and cognitive improvement with atypical APDs in schizophrenia. ..
- Bush W, Edwards T, Dudek S, McKinney B, Ritchie M. Alternative contingency table measures improve the power and detection of multifactor dimensionality reduction. BMC Bioinformatics. 2008;9:238 pubmed publisher..Thus, MDR, which has already been demonstrated as a powerful tool for detecting gene-gene interactions, can be improved with the use of alternative fitness functions. ..
- Kohli U, Muszkat M, Sofowora G, Harris P, Friedman E, Dupont W, et al. Effects of variation in the human alpha2A- and alpha2C-adrenoceptor genes on cognitive tasks and pain perception. Eur J Pain. 2010;14:154-9 pubmed publisher..03). The common ADRA2C del322-325 variant affected pain perception before and after dexmedetomidine but did not affect other cognitive responses, suggesting that it contributes to interindividual variability in pain perception. ..
- Gbadegesin R, Adeyemo A, Webb N, Greenbaum L, Abeyagunawardena A, Thalgahagoda S, et al. HLA-DQA1 and PLCG2 Are Candidate Risk Loci for Childhood-Onset Steroid-Sensitive Nephrotic Syndrome. J Am Soc Nephrol. 2015;26:1701-10 pubmed publisher..The finding of a MHC class II locus underlying SSNS risk suggests a major role for immune response in the pathogenesis of SSNS. ..
- Gould K, Burns C, Feoktistova A, Hu C, Pasion S, Forsburg S. Fission yeast cdc24(+) encodes a novel replication factor required for chromosome integrity. Genetics. 1998;149:1221-33 pubmed..An S. pombe homolog of the replicative DNA helicase DNA2 of S. cerevisiae suppresses cdc24. These results suggest that Cdc24p plays a role in the progression of normal DNA replication and is required to maintain genomic integrity. ..
- Kallianpur A, Hall L, Yadav M, Christman B, Dittus R, Haines J, et al. Increased prevalence of the HFE C282Y hemochromatosis allele in women with breast cancer. Cancer Epidemiol Biomarkers Prev. 2004;13:205-12 pubmed
- McCauley J, Kenealy S, Margulies E, Schnetz Boutaud N, Gregory S, Hauser S, et al. SNPs in Multi-species Conserved Sequences (MCS) as useful markers in association studies: a practical approach. BMC Genomics. 2007;8:266 pubmed..We believe that this novel approach demonstrates a paradigm for expediting the search for genes contributing to complex diseases. ..
- Dai Q, Shrubsole M, Ness R, Schlundt D, Cai Q, Smalley W, et al. The relation of magnesium and calcium intakes and a genetic polymorphism in the magnesium transporter to colorectal neoplasia risk. Am J Clin Nutr. 2007;86:743-51 pubmed..85; 95% CI: 1.09, 3.14) than were the subjects who did not carry the polymorphism. These findings, if confirmed, may provide a new avenue for the personalized prevention of magnesium deficiency and, thus, colorectal cancer. ..
- Edwards T, Wang X, Chen Q, Wormly B, Riley B, O Neill F, et al. Interaction between interleukin 3 and dystrobrevin-binding protein 1 in schizophrenia. Schizophr Res. 2008;106:208-17 pubmed publisher..We also observed a significant main effect in DTNBP1, which survived correction for multiple comparisons, and numerous nominally significant effects in several genes. ..
- Binka E, Vermund S, Armah G. Rotavirus diarrhea among children less than 5 years of age in urban Ghana. Pediatr Infect Dis J. 2011;30:716-8 pubmed publisher..The most common strains were G3P  (18.8%) and G2P  (12.5%). Cryptosporidium spp. infections were uncommon (3/143, 2.0%). ..
- Ritchie M, Rowan S, Kucera G, Stubblefield T, Blair M, Carter S, et al. Chromosome 4q25 variants are genetic modifiers of rare ion channel mutations associated with familial atrial fibrillation. J Am Coll Cardiol. 2012;60:1173-81 pubmed publisher..These findings support the idea that the genetic architecture of AF is complex and includes both rare and common genetic variants. ..
- Zeuzem S, HÃ©zode C, Bronowicki J, Loustaud Ratti V, Gea F, Buti M, et al. Daclatasvir plus simeprevir with or without ribavirin for the treatment of chronic hepatitis C virus genotype 1 infection. J Hepatol. 2016;64:292-300 pubmed publisher..Daclatasvir plus simeprevir, with or without ribavirin, was effective with a 12- or 24-week duration in genotype 1b-infected patients and was well tolerated. ClinicalTrials.gov identifier: NCT01628692. ..
- Bailey L, Roodi N, Dupont W, Parl F. Association of cytochrome P450 1B1 (CYP1B1) polymorphism with steroid receptor status in breast cancer. Cancer Res. 1998;58:5038-41 pubmed
- Exil V, Roberts R, Sims H, McLaughlin J, Malkin R, Gardner C, et al. Very-long-chain acyl-coenzyme a dehydrogenase deficiency in mice. Circ Res. 2003;93:448-55 pubmed
- Ertugrul A, Kennedy J, Masellis M, Basile V, Jayathilake K, Meltzer H. No association of the T102C polymorphism of the serotonin 2A receptor gene (HTR2A) with suicidality in schizophrenia. Schizophr Res. 2004;69:301-5 pubmed..01) and marginally higher than for the patients with genotype T/T (p=0.06). The relatively small sample size suggests a study with a larger sample and greater power would be of interest. ..
- Mehta S, Gould K. Identification of functional domains within the septation initiation network kinase, Cdc7. J Biol Chem. 2006;281:9935-41 pubmed..We found that a region adjacent to the kinase domain is responsible for Spg1 association and identified an overlapping but distinct SPB localization domain. In addition Cdc7 associates with itself and exists as a dimer in vivo. ..
- Ho R, Choi L, Lee W, Mayo G, Schwarz U, Tirona R, et al. Effect of drug transporter genotypes on pravastatin disposition in European- and African-American participants. Pharmacogenet Genomics. 2007;17:647-56 pubmed..Even when adjusted for the presence of the SLCO1B1 521C or 388G variant allele, European-Americans demonstrated significantly higher pravastatin AUC and Cmax values than African-Americans. ..
- Campbell D, Buie T, Winter H, Bauman M, Sutcliffe J, Perrin J, et al. Distinct genetic risk based on association of MET in families with co-occurring autism and gastrointestinal conditions. Pediatrics. 2009;123:1018-24 pubmed publisher..These results suggest that disrupted MET signaling may contribute to increased risk for autism spectrum disorder that includes familial gastrointestinal dysfunction. ..
- Ganter P, Cardinali G, Boundy Mills K. Pichia insulana sp. nov., a novel cactophilic yeast from the Caribbean. Int J Syst Evol Microbiol. 2010;60:1001-7 pubmed publisher..cactophila and P. pseudocactophila. The type strain of P. insulana is TSU00-106.5(T) (=CBS 11169(T) =UCD-FST 09-160(T)). ..
- Yang T, Chung S, Zhang W, Mullins J, McCulley C, Crawford J, et al. Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome. Circ Arrhythm Electrophysiol. 2009;2:417-26 pubmed publisher..When such results are inconclusive, great care should be taken with genetic counseling and screening of such families, and alternative disease-causing mechanisms should be considered. ..
- Zuvich R, McCauley J, Oksenberg J, Sawcer S, De Jager P, Aubin C, et al. Genetic variation in the IL7RA/IL7 pathway increases multiple sclerosis susceptibility. Hum Genet. 2010;127:525-35 pubmed publisher..2009). These results help to further delineate the genetic architecture of MS and validate our pathway approach as an effective method to identify novel associations in a complex disease. ..
- Sun J, Wan C, Jia P, Fanous A, Kendler K, Riley B, et al. Application of systems biology approach identifies and validates GRB2 as a risk gene for schizophrenia in the Irish Case Control Study of Schizophrenia (ICCSS) sample. Schizophr Res. 2011;125:201-8 pubmed publisher..Our results suggest that the systems biology approach is promising for identification of candidate genes and understanding the etiology of complex diseases. ..
- Cai H, Xiang Y, Qu S, Long J, Cai Q, Gao J, et al. Association of genetic polymorphisms in cell-cycle control genes and susceptibility to endometrial cancer among Chinese women. Am J Epidemiol. 2011;173:1263-71 pubmed publisher..73, 95% CI: 0.56, 0.94) without adjustment for multiple comparisons, significantly increased promoter activity. These findings suggest that polymorphisms of the CDKN1B gene may play a role in endometrial carcinogenesis. ..
- Zuvich R, Bush W, McCauley J, Beecham A, De Jager P, Ivinson A, et al. Interrogating the complex role of chromosome 16p13.13 in multiple sclerosis susceptibility: independent genetic signals in the CIITA-CLEC16A-SOCS1 gene complex. Hum Mol Genet. 2011;20:3517-24 pubmed publisher..These data highlight the importance of taking a closer look at the expression and function of chromosome 16p13 in the pathogenesis of MS. ..
- Balasubramanian M, McCollum D, Chang L, Wong K, Naqvi N, He X, et al. Isolation and characterization of new fission yeast cytokinesis mutants. Genetics. 1998;149:1265-75 pubmed..In addition, we have characterized a phenotype that has not been described previously in cytokinesis mutants, namely the failure to reorganize actin patches to the medial region of the cell in preparation for septum formation. ..
- Nurmi E, Bradford Y, Chen Y, Hall J, Arnone B, Gardiner M, et al. Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families. Genomics. 2001;77:105-13 pubmed
- Takagi T, Nakano Y, Takekoshi S, Inagami T, Tamura M. Hemizygous mice for the angiotensin II type 2 receptor gene have attenuated susceptibility to azoxymethane-induced colon tumorigenesis. Carcinogenesis. 2002;23:1235-41 pubmed..The AT(2) receptor function in the liver may be a potential determinant of tumor susceptibility in chemical carcinogen-induced colon tumorigenesis. ..
- Roden D. Long QT syndrome: reduced repolarization reserve and the genetic link. J Intern Med. 2006;259:59-69 pubmed..Assessing variability in susceptibility to acquired LQTS provides a framework for analysis of other complex gene-environment interactions. ..
- Kallianpur A, Hulgan T, Canter J, Ritchie M, Haines J, Robbins G, et al. Hemochromatosis (HFE) gene mutations and peripheral neuropathy during antiretroviral therapy. AIDS. 2006;20:1503-13 pubmed..This finding has potential implications for the prediction and prevention of NRTI-associated PN, particularly in populations at risk of iron deficiency. ..
- Kurnik D, Muszkat M, Friedman E, Sofowora G, Diedrich A, Xie H, et al. Effect of the alpha2C-adrenoreceptor deletion322-325 variant on sympathetic activity and cardiovascular measures in healthy subjects. J Hypertens. 2007;25:763-71 pubmed..001) and DBP (P = 0.005). The ADRA2C deletion polymorphism had no effect on markers of resting sympathetic activity and cardiovascular measures, and did not account for ethnic differences in blood pressure. ..
- Crawford D, Nord A, Badzioch M, Ranchalis J, McKinstry L, Ahearn M, et al. A common VLDLR polymorphism interacts with APOE genotype in the prediction of carotid artery disease risk. J Lipid Res. 2008;49:588-96 pubmed..These findings may further our understanding of VLDLR function, its ligand APOE, and ultimately the pathogenesis of CAAD in the general population. ..
- Sile S, Velez D, Gillani N, Narsia T, Moore J, George A, et al. CLCNKB-T481S and essential hypertension in a Ghanaian population. J Hypertens. 2009;27:298-304 pubmed
- Saraswathi V, Morrow J, Hasty A. Dietary fish oil exerts hypolipidemic effects in lean and insulin sensitizing effects in obese LDLR-/- mice. J Nutr. 2009;139:2380-6 pubmed publisher..Taken together, our data suggest that fish oil reduces hepatic steatosis in both lean and obese mice, has potent plasma lipid lowering effects in lean mice, and exerts insulin sensitizing effects in obese mice. ..
- Delahanty R, Beeghly Fadiel A, Xiang Y, Long J, Cai Q, Wen W, et al. Association of obesity-related genetic variants with endometrial cancer risk: a report from the Shanghai Endometrial Cancer Genetics Study. Am J Epidemiol. 2011;174:1115-26 pubmed publisher..The associations persisted after adjustment for BMI, suggesting that genetic markers of obesity provide value in addition to BMI in predicting endometrial cancer risk. ..
- Guo Y, Li J, Li C, Long J, Samuels D, Shyr Y. The effect of strand bias in Illumina short-read sequencing data. BMC Genomics. 2012;13:666 pubmed publisher..We successfully replicated our results using two additional independent datasets with different capturing methods and Illumina sequencers. Extreme strand bias indicates a potential high false-positive rate for SNPs. ..
- Loomis S, Kang J, Weinreb R, Yaspan B, Cooke Bailey J, Gaasterland D, et al. Association of CAV1/CAV2 genomic variants with primary open-angle glaucoma overall and by gender and pattern of visual field loss. Ophthalmology. 2014;121:508-16 pubmed publisher..These data support a role for caveolin 1, caveolin 2, or both in POAG and suggest that the caveolins particularly may affect POAG pathogenesis in women and in patients with early paracentral VF defects. ..
- Shuey M, Billings F, Wei S, Milne G, Nian H, Yu C, et al. Association of gain-of-function EPHX2 polymorphism Lys55Arg with acute kidney injury following cardiac surgery. PLoS ONE. 2017;12:e0175292 pubmed publisher..The EPHX2 Lys55Arg polymorphism is associated with AKI following cardiac surgery in patients without preexisting CKD. Pharmacological strategies to decrease sEH activity might decrease postoperative AKI. ..
- Abana C, Bingham B, Cho J, Graves A, Koyama T, Pilarski R, et al. IL-6 variant is associated with metastasis in breast cancer patients. PLoS ONE. 2017;12:e0181725 pubmed publisher..Further studies in larger population sets are warranted as advanced screening and prophylactic intervention might be employed in GG carriers. ..