Du F, Ozdowski E, Kotowski I, Marchuk D, Sherwood N. Functional conservation of human Spastin in a Drosophila model of autosomal dominant-hereditary spastic paraplegia. Hum Mol Genet. 2010;19:1883-96 pubmed publisher
Killian J, Nolan C, Wylie A, Li T, Vu T, Hoffman A, et al
. Divergent evolution in M6P/IGF2R imprinting from the Jurassic to the Quaternary. Hum Mol Genet. 2001;10:1721-8 pubmed
..Moreover, the divergent evolution of M6P/IGF2R imprinting predicts that the success of in vitro embryo procedures such as cloning may be species dependent...
Yu L, Song Y, Wharton R. E(nos)/CG4699 required for nanos function in the female germ line of Drosophila. Genesis. 2010;48:161-70 pubmed publisher
..Consistent with the finding that E(nos) interacts with Mof, we observe that nanos and mof also interact genetically to maintain normal oogenesis. ..
Pelak K, Goldstein D, Walley N, Fellay J, Ge D, Shianna K, et al
. Host determinants of HIV-1 control in African Americans. J Infect Dis. 2010;201:1141-9 pubmed publisher
Guo H, Liu H, Wei J, Li Y, Yu H, Guan X, et al
. Functional single nucleotide polymorphisms of the RASSF3 gene and susceptibility to squamous cell carcinoma of the head and neck. Eur J Cancer. 2014;50:582-92 pubmed publisher
..Larger replication studies are needed to confirm our findings. ..
Taylor D, Fillenbaum G, Burchett B, Blazer D. Is the APOE epsilon4 genotype associated with higher hospital costs among elderly patients?. Am J Geriatr Psychiatry. 2003;11:75-82 pubmed
Kring S, Brummett B, Barefoot J, Garrett M, Ashley Koch A, Boyle S, et al
. Impact of psychological stress on the associations between apolipoprotein E variants and metabolic traits: findings in an American sample of caregivers and controls. Psychosom Med. 2010;72:427-33 pubmed publisher
..Confirmation of these results in further research would indicate that the TT genotype can be used to identify persons at high risk for CVD when subjected to chronic stress. ..
Corder E, Hefler L. Multilocus genotypes spanning estrogen metabolism associated with breast cancer and fibroadenoma. Rejuvenation Res. 2006;9:56-60 pubmed
..Carriage of the respective multilocus genotypes increased risk 25-fold. We conclude that GoM latent classification may be useful to identify genetic risk sets and estimate risk for individuals...
Garrett S, Menold M, Broach J. The Saccharomyces cerevisiae YAK1 gene encodes a protein kinase that is induced by arrest early in the cell cycle. Mol Cell Biol. 1991;11:4045-52 pubmed
..Finally, an increase in Yak1 protein levels causes growth arrest of cells with attenuated A kinase activity. These results suggest that Yak1 acts in a pathway parallel to that of the A kinase to negatively regulate cell proliferation. ..
Levesque M, Hobbs M, O Loughlin C, Chancellor J, Chen Y, Tkachuk A, et al
. Malaria severity and human nitric oxide synthase type 2 (NOS2) promoter haplotypes. Hum Genet. 2010;127:163-82 pubmed publisher
..Taken together, these studies suggest that the relationship between NOS2 promoter polymorphisms and malaria severity is more complex than previously described. ..
Hitomi Y, Cirulli E, Fellay J, McHutchison J, Thompson A, Gumbs C, et al
. Inosine triphosphate protects against ribavirin-induced adenosine triphosphate loss by adenylosuccinate synthase function. Gastroenterology. 2011;140:1314-21 pubmed publisher
..Because patients with excess ITP appear largely protected against anemia, these results confirm that RBV-induced anemia is due primarily to the effect of the drug on GTP and consequently ATP levels in erythrocytes. ..
Linnertz C, Saunders A, Lutz M, Crenshaw D, Grossman I, Burns D, et al
. Characterization of the poly-T variant in the TOMM40 gene in diverse populations. PLoS ONE. 2012;7:e30994 pubmed publisher
..These data may be used as references for '523' allele and '523'-APOE haplotype frequencies in diverse populations for the design of research studies and clinical trials. ..
Zurita Martinez S, Cardenas M. Tor and cyclic AMP-protein kinase A: two parallel pathways regulating expression of genes required for cell growth. Eukaryot Cell. 2005;4:63-71 pubmed
Kertai M, Qi W, Li Y, Lombard F, Liu Y, Smith M, et al
. Gene signatures of postoperative atrial fibrillation in atrial tissue after coronary artery bypass grafting surgery in patients receiving β-blockers. J Mol Cell Cardiol. 2016;92:109-15 pubmed publisher
..In patients undergoing CABG surgery, RAA gene expression profiling, and pathway and eQTL analysis suggested that VOPP1 plays a novel etiological role in postoperative AF despite perioperative BB therapy. ..
Muir A. IL28B in the era of direct-acting antivirals for hepatitis C. J Clin Gastroenterol. 2013;47:222-7 pubmed publisher
..IL28B also predicts the likelihood of shortened duration of treatment with the protease inhibitor combination. As hepatitis C treatment moves towards interferon-free regimens, the role of IL28B in these regimens is under investigation. ..
Minear M, Li Y, Rimmler J, Balajonda E, Watson S, Allingham R, et al
. Genetic screen of African Americans with Fuchs endothelial corneal dystrophy. Mol Vis. 2013;19:2508-16 pubmed
..This observation is on par with findings from previous sequencing studies involving European or Asian ancestry patients with FECD. ..
Brummett B, Kuhn C, Boyle S, Babyak M, Siegler I, Williams R. Cortisol responses to emotional stress in men: association with a functional polymorphism in the 5HTR2C gene. Biol Psychol. 2012;89:94-8 pubmed publisher
Murtha A, Nieves A, Hauser E, Swamy G, Yonish B, Sinclair T, et al
. Association of maternal IL-1 receptor antagonist intron 2 gene polymorphism and preterm birth. Am J Obstet Gynecol. 2006;195:1249-53 pubmed
..8% had at least 1 copy of allele 2 present compared with 12.4% in the control group (P < .0004). Maternal carriage of at least 1 copy of the IL-1RN allele 2 appears to be associated with increased risk of preterm birth. ..
Jhaveri R, McHutchison J, Patel K, Qiang G, Diehl A. Specific polymorphisms in hepatitis C virus genotype 3 core protein associated with intracellular lipid accumulation. J Infect Dis. 2008;197:283-91 pubmed publisher
..03). We have identified polymorphisms in HCV core protein genotype 3 that produce increased intracellular lipid levels and thus may play a significant role in lipid metabolism or trafficking, contributing to steatosis. ..
Ge D, Fellay J, Thompson A, Simon J, Shianna K, Urban T, et al
. Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance. Nature. 2009;461:399-401 pubmed publisher
Hoyo C, Schildkraut J, Murphy S, Chow W, Vaughan T, Risch H, et al
. IGF2R polymorphisms and risk of esophageal and gastric adenocarcinomas. Int J Cancer. 2009;125:2673-8 pubmed publisher
..5002G > A genotype and EGA was not evident. These findings suggest that nonsynonymous polymorphisms in M6P/IGF2R may contribute to the risks of EGA and noncardia adenocarcinomas. Larger studies are required to confirm these findings. ..
Vining K, Davis T. Isolation of a Ve homolog, mVe1, and its relationship to Verticillium wilt resistance in Mentha longifolia (L.) Huds. Mol Genet Genomics. 2009;282:173-84 pubmed publisher
..Therefore, further investigations of mVe1 and identification of additional candidate genes are both warranted...
Hostage C, Choudhury K, Murali Doraiswamy P, Petrella J. Mapping the effect of the apolipoprotein E genotype on 4-year atrophy rates in an Alzheimer disease-related brain network. Radiology. 2014;271:211-9 pubmed publisher
..To determine the effect of the apolipoprotein E (APOE) genotype on atrophy rates of specific brain gray matter regions hypothesized to be key components of cognitive networks disrupted in Alzheimer disease...
Manzaneda A, Prasad K, Mitchell Olds T. Variation and fitness costs for tolerance to different types of herbivore damage in Boechera stricta genotypes with contrasting glucosinolate structures. New Phytol. 2010;188:464-77 pubmed publisher
..Trade-offs between plant tolerance to multiple herbivores may not explain the existence of intermediate levels of tolerance to damage in plants with contrasting chemical defensive profiles. ..
Peppercorn J, Shapira I, Deshields T, Kroetz D, Friedman P, Spears P, et al
. Ethical aspects of participation in the database of genotypes and phenotypes of the National Center for Biotechnology Information: the Cancer and Leukemia Group B Experience. Cancer. 2012;118:5060-8 pubmed publisher
Brummett B, Krystal A, Ashley Koch A, Kuhn C, Zuchner S, Siegler I, et al
. Sleep quality varies as a function of 5-HTTLPR genotype and stress. Psychosom Med. 2007;69:621-4 pubmed
..009), such that the s allele was associated with poorer sleep quality in caregivers as compared with controls. Findings suggest that the s allele may moderate sleep disturbance in response to chronic stress. ..
Borroto Esoda K, Waters J, Bae A, Harris J, Hinkle J, Quinn J, et al
. Baseline genotype as a predictor of virological failure to emtricitabine or stavudine in combination with didanosine and efavirenz. AIDS Res Hum Retroviruses. 2007;23:988-95 pubmed
Mork L, Tang H, Batchvarov I, Capel B. Mouse germ cell clusters form by aggregation as well as clonal divisions. Mech Dev. 2012;128:591-6 pubmed publisher
..We show that germ cell clusters in the fetal gonad arise through aggregation as well as cell division. Intercellular bridges, however, are likely restricted to cells of the same genotype. ..
Lee C, Fuemmeler B, McClernon F, Ashley Koch A, Kollins S. Nicotinic receptor gene variants interact with attention deficient hyperactive disorder symptoms to predict smoking trajectories from early adolescence to adulthood. Addict Behav. 2013;38:2683-9 pubmed publisher
..Unique associations between specific variants and patterns of ADHD symptoms were identified which may be useful for targeting prevention efforts to individuals at greatest risk for cigarette smoking. ..
Jiang R, Brummett B, Babyak M, Siegler I, Williams R. Brain-derived neurotrophic factor (BDNF) Val66Met and adulthood chronic stress interact to affect depressive symptoms. J Psychiatr Res. 2013;47:233-9 pubmed publisher
..Individuals with the Val/Val genotype and chronic stress exposure could be targeted for interventions designed to reduce risk of depression if this finding is confirmed in future studies. ..
Sharma Kuinkel B, Ahn S, Rude T, Zhang Y, Tong S, Ruffin F, et al
. Presence of genes encoding panton-valentine leukocidin is not the primary determinant of outcome in patients with hospital-acquired pneumonia due to Staphylococcus aureus. J Clin Microbiol. 2012;50:848-56 pubmed publisher
..This study suggests that neither pvl presence nor in vitro level of alpha-hemolysin production is the primary determinant of outcome among patients with HAP caused by S. aureus. ..
Sims R, van der Lee S, Naj A, Bellenguez C, Badarinarayan N, Jakobsdottir J, et al
. Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. Nat Genet. 2017;49:1373-1384 pubmed publisher
..These genetic findings provide additional evidence that the microglia-mediated innate immune response contributes directly to the development of Alzheimer's disease. ..
Anguiano A, Tuchman S, Acharya C, Salter K, Gasparetto C, Zhan F, et al
. Gene expression profiles of tumor biology provide a novel approach to prognosis and may guide the selection of therapeutic targets in multiple myeloma. J Clin Oncol. 2009;27:4197-203 pubmed publisher
..GEP provides insight into the molecular defects underlying plasma cell dyscrasias that may explain their clinical heterogeneity. GEP also may also refine current prognostic and therapeutic models for MGUS and MM. ..
Hall M, Willis J. Transmission ratio distortion in intraspecific hybrids of Mimulus guttatus: implications for genomic divergence. Genetics. 2005;170:375-86 pubmed
..A similar level of segregation distortion is detected in both maps. Collinear regions between maps are compared to determine if there are shared genetic patterns of non-Mendelian segregation distortion within and among Mimulus species...
Coffman C, Wayne M, Nuzhdin S, Higgins L, McIntyre L. Identification of co-regulated transcripts affecting male body size in Drosophila. Genome Biol. 2005;6:R53 pubmed
..Applied to body size in Drosophila simulans, an evolutionarily important complex trait, a factor was directly associated with body size. ..
Irazoqui J, Howell A, Theesfeld C, Lew D. Opposing roles for actin in Cdc42p polarization. Mol Biol Cell. 2005;16:1296-304 pubmed
..In addition, we report that once a bud has formed, polarized Cdc42p becomes more resistant to dispersal, revealing an unexpected difference between unbudded and budded cells in the organization of the polarization site. ..
Coberly L, Rausher M. Pleiotropic effects of an allele producing white flowers in Ipomoea purpurea. Evolution. 2008;62:1076-85 pubmed publisher
..Our results thus support the notion that deleterious pleiotropy may influence the evolutionary trajectory of flower-color mutants...
Audoly L, Ruan X, Wagner V, Goulet J, Tilley S, Koller B, et al
. Role of EP(2) and EP(3) PGE(2) receptors in control of murine renal hemodynamics. Am J Physiol Heart Circ Physiol. 2001;280:H327-33 pubmed
..We conclude that EP(3 )receptors mediate vasoconstriction in the kidney of male mice and its actions are tonically active in the basal state. Furthermore, EP(3) receptors are capable of buffering PGE(2)-mediated renal vasodilation...
Clementz T, Zhou Z, Raetz C. Function of the Escherichia coli msbB gene, a multicopy suppressor of htrB knockouts, in the acylation of lipid A. Acylation by MsbB follows laurate incorporation by HtrB. J Biol Chem. 1997;272:10353-60 pubmed
..Presumably, the acyloxyacyl group generated by excess MsbB substitutes for the one normally formed by HtrB. ..
McHutchison J, Manns M, Muir A, Terrault N, Jacobson I, Afdhal N, et al
. Telaprevir for previously treated chronic HCV infection. N Engl J Med. 2010;362:1292-303 pubmed publisher
..ClinicalTrials.gov number, NCT00420784.) ..
Kulminski A, Ukraintseva S, Arbeev K, Manton K, Oshima J, Martin G, et al
. Health-protective and adverse effects of the apolipoprotein E epsilon2 allele in older men. J Am Geriatr Soc. 2008;56:478-83 pubmed publisher
..Strong adverse relationships with disability suggest that epsilon2-containing genotypes can be unfavorable factors for the health and well-being of aging men. ..
Shaw A, Shaw B, Johnson M, Higuchi M, Arikawa T, Ueno T, et al
. Origins, genetic structure, and systematics of the narrow endemic peatmosses (Sphagnum): S. guwassanense and S. triseriporum (Sphagnaceae). Am J Bot. 2013;100:1202-20 pubmed publisher
..calymmatophyllum is endemic to Honshu Island. This prompted a population genetic and phylogenetic analysis to resolve the origin(s), population structure, and phylogenetic relationships of this morphologically variable species. •..
Ma D, Whitehead P, Menold M, Martin E, Ashley Koch A, Mei H, et al
. Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism. Am J Hum Genet. 2005;77:377-88 pubmed
..These results support the hypothesis that GABA receptor subunit genes are involved in autism, most likely via complex gene-gene interactions. ..
Zhang X, Nicholls P, Laje G, Sotnikova T, Gainetdinov R, Albert P, et al
. A functional alternative splicing mutation in human tryptophan hydroxylase-2. Mol Psychiatry. 2011;16:1169-76 pubmed publisher
..However, in combination with other gene variants linked to 5-HT homeostasis, this variant may exhibit important epistatic influences. ..
Thompson A, Santoro R, Piazzolla V, Clark P, Naggie S, Tillmann H, et al
. Inosine triphosphatase genetic variants are protective against anemia during antiviral therapy for HCV2/3 but do not decrease dose reductions of RBV or increase SVR. Hepatology. 2011;53:389-95 pubmed publisher
..Two ITPA variants were strongly associated with protection against treatment-related anemia in patients with genotype 2/3 HCV, but they did not decrease the need for RBV dose reduction or increase the rate of SVR. ..
Finberg K, Whittlesey R, Andrews N. Tmprss6 is a genetic modifier of the Hfe-hemochromatosis phenotype in mice. Blood. 2011;117:4590-9 pubmed publisher
Beskow L, Namey E, Cadigan R, Brazg T, Crouch J, Henderson G, et al
. Research participants' perspectives on genotype-driven research recruitment. J Empir Res Hum Res Ethics. 2011;6:3-20 pubmed publisher
..g., trusted researchers). Also, for genotype-driven recruitment, it may be appropriate to set a lower bar for disclosure of individual results than the clinical utility threshold recommended more generally. ..
Parks C, Cooper G, Hudson L, Dooley M, Treadwell E, St Clair E, et al
. Association of Epstein-Barr virus with systemic lupus erythematosus: effect modification by race, age, and cytotoxic T lymphocyte-associated antigen 4 genotype. Arthritis Rheum. 2005;52:1148-59 pubmed
..The observed patterns of effect modification by race, age, and CTLA-4 genotype should be examined in other studies and may help frame new hypotheses regarding the role of EBV in SLE etiology. ..
Tillmann H, Thompson A, Patel K, Wiese M, Tenckhoff H, Nischalke H, et al
. A polymorphism near IL28B is associated with spontaneous clearance of acute hepatitis C virus and jaundice. Gastroenterology. 2010;139:1586-92, 1592.e1 pubmed publisher
..We analyzed the association between IL28B and the clinical presentation of acute hepatitis C virus (HCV) infection in a homogeneous population...
Li Y, Goh L, Khor C, Fan Q, Yu M, Han S, et al
. Genome-wide association studies reveal genetic variants in CTNND2 for high myopia in Singapore Chinese. Ophthalmology. 2011;118:368-75 pubmed publisher
..035, meta P of 3 datasets: 7.84 × 10(-6)). This study identified a strong association of CTNND2 for high myopia in Asian datasets. The CTNND2 gene maps to a known high myopia linkage region on chromosome 5p15. ..
Parks C, Cooper G, Dooley M, Treadwell E, St Clair E, Gilkeson G, et al
. Systemic lupus erythematosus and genetic variation in the interleukin 1 gene cluster: a population based study in the southeastern United States. Ann Rheum Dis. 2004;63:91-4 pubmed
..4, p = 0.017), independent of variation at IL1alpha -889. The observed associations support the hypothesis that genetic variation in IL1 is involved in the aetiology of SLE and merit further investigation. ..
Cyr D, Lucas J, Thompson J, Patel K, Clark P, Thompson A, et al
. Characterization of serum proteins associated with IL28B genotype among patients with chronic hepatitis C. PLoS ONE. 2011;6:e21854 pubmed publisher
..Further investigation of this pathway is warranted to determine if it plays a role in other comorbidities of HCV-infection. ..
Cooper D, Lahue R, Modrich P. Methyl-directed mismatch repair is bidirectional. J Biol Chem. 1993;268:11823-9 pubmed
..To our knowledge, these experiments represent the first instance in which exonuclease I, exonuclease VII, and RecJ have been implicated in a particular DNA metabolic pathway. ..
Ashley Koch A, Okocha E, Garrett M, Soldano K, De Castro L, Jonassaint J, et al
. MYH9 and APOL1 are both associated with sickle cell disease nephropathy. Br J Haematol. 2011;155:386-94 pubmed publisher
..Our data provide insight into the pathobiology of renal dysfunction in SCD, suggesting that MYH9 and APOL1 are both associated with risk. ..
Liu Y, Schmidt S, Qin X, Gibson J, Hutchins K, Santiago Turla C, et al
. Lack of association between LOXL1 variants and primary open-angle glaucoma in three different populations. Invest Ophthalmol Vis Sci. 2008;49:3465-8 pubmed publisher
..The purpose of this study was to investigate whether XFG-associated variants of LOXL1 play a significant role in primary open-angle glaucoma in the Caucasian, African-American, and Ghanaian (West-African) populations...
Ervin J, Pannell C, Szymanski M, Welsh Bohmer K, Schmechel D, Hulette C. Vascular smooth muscle actin is reduced in Alzheimer disease brain: a quantitative analysis. J Neuropathol Exp Neurol. 2004;63:735-41 pubmed
..The severity of the loss of SMA within the AD group may depend on ApoE type. ..
Cohn J, Bornstein J, Jowell P. Cystic fibrosis mutations and genetic predisposition to idiopathic chronic pancreatitis. Med Clin North Am. 2000;84:621-31, ix pubmed
..This article summarizes the evidence associating these abnormal CFTR genotypes with idiopathic chronic pancreatitis and reviews the implications of this association for the pathogenesis, classification, and prevention of pancreatitis...
Gregory S, Schmidt S, Seth P, Oksenberg J, Hart J, Prokop A, et al
. Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis. Nat Genet. 2007;39:1083-91 pubmed
..The SNP influences the amount of soluble and membrane-bound isoforms of the protein by putatively disrupting an exonic splicing silencer. ..
Bacolod M, Lin S, Johnson S, Bullock N, Colvin M, Bigner D, et al
. The gene expression profiles of medulloblastoma cell lines resistant to preactivated cyclophosphamide. Curr Cancer Drug Targets. 2008;8:172-9 pubmed
..For D283 MED (4-HCR), the most notable increase in expression is that of ALDH1B1, a member of the aldehyde dehydrogenase (ALDH) family of proteins...
Kenna M, Petranka J, Reilly J, Davis L. Yeast N1e3p/Nup170p is required for normal stoichiometry of FG nucleoporins within the nuclear pore complex. Mol Cell Biol. 1996;16:2025-36 pubmed
..We also identify a redundant yeast homolog that can partially substitute for Nle3p and show that together these proteins are required for viability. ..
Mito J, Riedel R, Dodd L, Lahat G, Lazar A, Dodd R, et al
. Cross species genomic analysis identifies a mouse model as undifferentiated pleomorphic sarcoma/malignant fibrous histiocytoma. PLoS ONE. 2009;4:e8075 pubmed publisher
..These results suggest that genomic alterations present in human MFH are conserved in the LSL-Kras(G12D); p53(Flox/Flox) mouse model of soft tissue sarcoma and demonstrate the utility of this pre-clinical model...
Wallace A, Klein A, Mathieson A. A reply to Engel et al. Mol Ecol. 2006;15:1185-7 pubmed