Genomes and Genes
Experts and Doctors on genotype in Vancouver, British Columbia, Canada
Locale: Vancouver, British Columbia, Canada
Publications169 found, 100 shown here
- Sadovnick A, Traboulsee A, Zhao Y, Bernales C, Encarnacion M, Ross J, et al. Genetic modifiers of multiple sclerosis progression, severity and onset. Clin Immunol. 2017;180:100-105 pubmed publisher..031 and 0.023). In addition, PSMG4 p.W99R and NLRP5 p.R761L were found to correlate with an earlier age at MS clinical onset, and MC1R p.R160W with delayed onset of clinical symptoms (p=0.010-0.041). ..
- Juriloff D, Gunn T, Harris M, Mah D, Wu M, Dewell S. Multifactorial genetics of exencephaly in SELH/Bc mice. Teratology. 2001;64:189-200 pubmed..The high risk of exencephaly in SELH/Bc mice is caused by the cumulative effect of two to three semidominant genes. Candidate genes include Msx2, Madh5, Ptch, and Irx1 (Chr 13) and Actb and Rac1 (Chr 5). ..
- Podder M, Welch W, Zamar R, Tebbutt S. Dynamic variable selection in SNP genotype autocalling from APEX microarray data. BMC Bioinformatics. 2006;7:521 pubmed..In this regard, our method is able to automatically select the probes which work well and reduce the effect of other so-called bad performing probes in a sample-specific manner, for any number of SNPs. ..
- DeLeeuw R, Zettl A, Klinker E, Haralambieva E, Trottier M, Chari R, et al. Whole-genome analysis and HLA genotyping of enteropathy-type T-cell lymphoma reveals 2 distinct lymphoma subtypes. Gastroenterology. 2007;132:1902-11 pubmed..Contrary to current clinical classification, ETL comprises 2 morphologically, clinically, and genetically distinct lymphoma entities. In addition, type 2 ETL may not be associated with celiac disease. ..
- Thomson C, Hanna C, Carlson S, Rupert J. The -521 C/T variant in the dopamine-4-receptor gene (DRD4) is associated with skiing and snowboarding behavior. Scand J Med Sci Sports. 2013;23:e108-13 pubmed publisher..001). These data suggest that the DRD4 -521 C/T polymorphism contributes to a "risk-taking phenotype" in skiers and snowboarders, but the variant was not associated with impulsive sensation seeking (P = 0.9). ..
- Semaka A, Kay C, Doty C, Collins J, Bijlsma E, Richards F, et al. CAG size-specific risk estimates for intermediate allele repeat instability in Huntington disease. J Med Genet. 2013;50:696-703 pubmed publisher..These data provide novel insights into the origins of new mutations for HD. The CAG size-specific risk estimates inform clinical practice and provide accurate risk information for persons who receive an IA predictive test result. ..
- Sekirov I, Croxen M, Ng C, Azana R, Chang Y, Mataseje L, et al. Epidemiologic and Genotypic Review of Carbapenemase-Producing Organisms in British Columbia, Canada, between 2008 and 2014. J Clin Microbiol. 2016;54:317-27 pubmed publisher..Although in our study, NDM-harboring E. cloacae isolates appeared to spread clonally, the spread of carbapenem resistance in K. pneumoniae seems to be plasmid mediated. ..
- Clee S, Zwinderman A, Engert J, Zwarts K, Molhuizen H, Roomp K, et al. Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease. Circulation. 2001;103:1198-205 pubmed..However, the extent to which common variation within this gene influences plasma lipid levels and CAD in the general population is unknown...
- Swenson L, Mo T, Dong W, Zhong X, Woods C, Jensen M, et al. Deep sequencing to infer HIV-1 co-receptor usage: application to three clinical trials of maraviroc in treatment-experienced patients. J Infect Dis. 2011;203:237-45 pubmed publisher..This large study establishes deep V3 sequencing as a promising tool for identifying treatment-experienced individuals who could benefit from CCR5-antagonist-containing regimens. ..
- Tucker T, Montpetit A, Chai D, Chan S, Chénier S, Coe B, et al. Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation. BMC Med Genomics. 2011;4:25 pubmed publisher..The large number of apparently false positive CNV calls on each of the platforms supports the need for validating clinically important findings with a different technology. ..
- Aminuddin F, Akhabir L, Stefanowicz D, Pare P, Connett J, Anthonisen N, et al. Genetic association between human chitinases and lung function in COPD. Hum Genet. 2012;131:1105-14 pubmed publisher..Although a significant effect of chitinase gene alleles was found on lung function level and decline in the LHS, we were unable to replicate the associations with COPD affection status in the other COPD study groups. ..
- Drummond E, Vellend M. Genotypic diversity effects on the performance of Taraxacum officinale populations increase with time and environmental favorability. PLoS ONE. 2012;7:e30314 pubmed publisher..Our four-year field experiment plus seedling establishment trials indicate that genotypic diversity effects have far-reaching and context-dependent consequences across generations. ..
- Shaw K, Amstutz U, Hildebrand C, Rassekh S, Hosking M, Neville K, et al. VKORC1 and CYP2C9 genotypes are predictors of warfarin-related outcomes in children. Pediatr Blood Cancer. 2014;61:1055-62 pubmed publisher..Furthermore, we identified an additional variant in CYP2C9 of potential relevance for warfarin dosing in children. ..
- Taylor N, Busam K, From L, Groben P, Anton Culver H, Cust A, et al. Inherited variation at MC1R and histological characteristics of primary melanoma. PLoS ONE. 2015;10:e0119920 pubmed publisher..Our results suggest inherited variation in MC1R may play an influential role in anatomic site presentation of melanomas and may differ with respect to skin pigmentation phenotype. ..
- Maagdenberg H, Vijverberg S, Bierings M, Carleton B, Arets H, de Boer A, et al. Pharmacogenomics in Pediatric Patients: Towards Personalized Medicine. Paediatr Drugs. 2016;18:251-60 pubmed publisher..They also display the importance of collaborations to obtain good quality evidence for the implementation of genetic testing in clinical practice to optimize and personalize treatment. ..
- John C, Soler Artigas M, Hui J, Nielsen S, Rafaels N, Pare P, et al. Genetic variants affecting cross-sectional lung function in adults show little or no effect on longitudinal lung function decline. Thorax. 2017;72:400-408 pubmed publisher..Although no genetic variants have yet been associated with lung function decline at stringent genome-wide significance, longitudinal change in lung function is heritable suggesting that there is scope for future discoveries. ..
- Cunningham E, Hajarizadeh B, Dalgard O, Amin J, Hellard M, Foster G, et al. Adherence to response-guided pegylated interferon and ribavirin for people who inject drugs with hepatitis C virus genotype 2/3 infection: the ACTIVATE study. BMC Infect Dis. 2017;17:420 pubmed publisher..Treatment completion was associated with improved response to therapy. ACTIVATE trial registration number: NCT01364090 - May 31, 2011. ..
- He J, Burkett K, Connett J, Anthonisen N, Pare P, Sandford A. Interferon gamma polymorphisms and their interaction with smoking are associated with lung function. Hum Genet. 2006;119:365-75 pubmed..No association was found in the rate of decline study. There was an association between IFNG genotype and baseline of lung function and this association was modified by cigarette smoking. ..
- Wallace A, He J, Burkett K, Ruan J, Connett J, Anthonisen N, et al. Contribution of alpha- and beta-defensins to lung function decline and infection in smokers: an association study. Respir Res. 2006;7:76 pubmed
- Paulus S, Hirschfeld A, Victor R, Brunstein J, Thomas E, Turvey S. Common human Toll-like receptor 4 polymorphisms--role in susceptibility to respiratory syncytial virus infection and functional immunological relevance. Clin Immunol. 2007;123:252-7 pubmed..We conclude that the Asp299Gly TLR4 polymorphism does not alter receptor function and does not influence the risk of severe RSV infection. ..
- Chen C, Ritland K. Lineage-specific mapping of quantitative trait loci. Heredity (Edinb). 2013;111:106-13 pubmed publisher..Extensions of lineage-specific QTL mapping to other types of data and crosses, and to inference of ancestral QTL state, are discussed. ..
- Porth I, Klápště J, Skyba O, Friedmann M, Hannemann J, Ehlting J, et al. Network analysis reveals the relationship among wood properties, gene expression levels and genotypes of natural Populus trichocarpa accessions. New Phytol. 2013;200:727-42 pubmed publisher..Accommodated gene variants revealed the hierarchy in the genetic architecture that underpins substantial phenotypic variability, and represent new tools to support the maximization of response to selection...
- O Donnell K, Glover V, Lahti J, Lahti M, Edgar R, Raikkonen K, et al. Maternal prenatal anxiety and child COMT genotype predict working memory and symptoms of ADHD. PLoS ONE. 2017;12:e0177506 pubmed publisher..The findings, from two cohorts, show a robust gene-environment interaction, which may contribute to inter-individual differences in the effects of maternal prenatal anxiety on developmental outcomes from childhood to mid-adolescence. ..
- Andrew S, Goldberg Y, Kremer B, Telenius H, Theilmann J, Adam S, et al. The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nat Genet. 1993;4:398-403 pubmed..Affected HD siblings had significant correlations for trinucleotide expansion (r = 0.66, p < 0.001) which was not apparent for affected parent-child pairs. ..
- Al Rawahi G, Schreader A, Porter S, Roscoe D, Gustafson R, Bryce E. Methicillin-resistant Staphylococcus aureus nasal carriage among injection drug users: six years later. J Clin Microbiol. 2008;46:477-9 pubmed..MRSA nasal colonization in this population has increased significantly within the last 6 years, with USA-300 replacing the previous strain. Most of these strains are PVL positive, and all are susceptible to TMP-SMX. ..
- Schluter D, Marchinko K, Barrett R, Rogers S. Natural selection and the genetics of adaptation in threespine stickleback. Philos Trans R Soc Lond B Biol Sci. 2010;365:2479-86 pubmed publisher..Studies of the effects of selection on genes complement efforts to identify the molecular basis of adaptive differences, and improve our understanding of phenotypic evolution. ..
- Porth I, Klápště J, Skyba O, Hannemann J, McKown A, Guy R, et al. Genome-wide association mapping for wood characteristics in Populus identifies an array of candidate single nucleotide polymorphisms. New Phytol. 2013;200:710-26 pubmed publisher..Our findings provide unique insights into wood trait architecture and support efforts for population improvement based on desirable allelic variants...
- Jensen D, Asselah T, Dieterich D, Foster G, Sulkowski M, Zeuzem S, et al. Faldaprevir, pegylated interferon, and ribavirin for treatment-naïve HCV genotype-1: pooled analysis of two phase 3 trials. Ann Hepatol. 2016;15:333-49 pubmed publisher..Addition of faldaprevir to PegIFN/RBV increased SVR12 in patients with HCV genotype-1, and was well tolerated. Faldaprevir 120 mg is effective in the treatment of HCV genotype-1. ClinicalTrials.gov: NCT01343888 and NCT01297270. ..
- Altmüller F, Lissewski C, Bertola D, Flex E, Stark Z, Spranger S, et al. Genotype and phenotype spectrum of NRAS germline variants. Eur J Hum Genet. 2017;25:823-831 pubmed publisher..With this report, we expand the genotype and phenotype spectrum of RASopathy-associated germline NRAS variants and provide evidence that NRAS variants do not spare the cancer-associated mutation hotspots. ..
- McKay J, Hung R, Han Y, Zong X, Carreras Torres R, Christiani D, et al. Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. Nat Genet. 2017;49:1126-1132 pubmed publisher..Other loci include genes such as a cholinergic nicotinic receptor, CHRNA2, and the telomere-related genes OFBC1 and RTEL1. Further exploration of the target genes will continue to provide new insights into the etiology of lung cancer...
- Barker M, Henderson A, Naguib K, Vercauteren S, Devlin A, Albert A, et al. Serum Soluble Transferrin Receptor Concentrations Are Elevated in Congolese Children with Glucose-6-Phosphate Dehydrogenase Variants, but Not Sickle Cell Variants or ?-Thalassemia. J Nutr. 2017;147:1785-1794 pubmed publisher..b>Conclusions: We found that 2 G6PD variant genotypes were associated with elevated sTfR concentrations, which limits the accuracy of sTfR as a biomarker of iron status in this population. ..
- Harris M, Juriloff D. Nonallelic noncomplementation models in mice: the first arch and lidgap-Gates mutations. Genome. 1998;41:789-96 pubmed..Based on our data on open eyelids at birth, we suggest that false allelism may be common in mammalian birth defects that result from failure to meet developmental thresholds, even when the "causal" mutations are Mendelian. ..
- Rupert J, Kidd K, Norman L, Monsalve M, Hochachka P, Devine D. Genetic polymorphisms in the Renin-Angiotensin system in high-altitude and low-altitude Native American populations. Ann Hum Genet. 2003;67:17-25 pubmed..There was no evidence for an over-representation of the RAS alleles associated with cardiovascular fitness in the high-altitude Amerindian population when compared to the lowland Amerindian population. ..
- Otto S, Nuismer S. Species interactions and the evolution of sex. Science. 2004;304:1018-20 pubmed..Our results show that species interactions typically select against sex. We conclude that, although the Red Queen favors sex under certain circumstances, it alone does not account for the ubiquity of sex. ..
- Alvarez C, De Vera M, Heslip T, Casey B. Evaluation of the anatomic burden of patients with hereditary multiple exostoses. Clin Orthop Relat Res. 2007;462:73-9 pubmed..EXT1 patients were shorter. All limb segments tended to be shorter for EXT1 subjects. EXT1 subjects showed more anatomic burden with respect to lesion quality and height...
- Hossain S, Le N, Brooks Wilson A, Spinelli J. Impact of genotype misclassification on genetic association estimates and the bayesian adjustment. Am J Epidemiol. 2009;170:994-1004 pubmed publisher..The authors also provide an example showing the application of the proposed method to study data relating non-Hodgkin lymphoma to a single nucleotide polymorphism in the aryl hydrocarbon receptor gene. ..
- Massah N, Wang J, Russell J, Van Niejenhuis A, El Kassaby Y. Genealogical relationship among members of selection and production populations of yellow cedar (Callitropsis nootkatensis [D. Don] Oerst.) in the absence of parental information. J Hered. 2010;101:154-63 pubmed publisher..The associated buildup of coancestry in selection and production populations is expected to result in inaccurate estimation of genetic parameters and an unintentional reduction in genetic diversity in reforestation stocks. ..
- Xie F, Hu Y, Speert D, Turvey S, Peng G, Money D, et al. Toll-like receptor gene polymorphisms and preeclampsia risk: a case-control study and data synthesis. Hypertens Pregnancy. 2010;29:390-8 pubmed publisher..Data synthesis of these data and other studies strengthens the association for early-onset and severe disease, in particular. A definitive and fully powered cohort study is required. ..
- Prentice L, d Anglemont de Tassigny X, McKinney S, Ruiz de Algara T, Yap D, Turashvili G, et al. The testosterone-dependent and independent transcriptional networks in the hypothalamus of Gpr54 and Kiss1 knockout male mice are not fully equivalent. BMC Genomics. 2011;12:209 pubmed publisher..Taken together, global transcriptional profiling shows that loss of GPR54 and kisspeptin are not fully equivalent in the mouse hypothalamus. ..
- Tam A, Chu J, Rose A. Genome-Wide Mutational Signature of the Chemotherapeutic Agent Mitomycin C in Caenorhabditis elegans. G3 (Bethesda). 2015;6:133-40 pubmed publisher..In conclusion, the systematic study we have described provides insight into potential sequence specificity of MMC with DNA. ..
- Marotta P, Bailey R, Elkashab M, Farley J, Feinman S, Peltekian K, et al. Real-world effectiveness of peginterferon Î±-2b plus ribavirin in a Canadian cohort of treatment-naÃ¯ve chronic hepatitis C patients with genotypes 2 or 3: results of the PoWer and RediPEN studies. Eur J Clin Microbiol Infect Dis. 2016;35:597-609 pubmed publisher..Fibrosis score and gender were key outcome predictors in the G3-infected population. In clinical settings, peg-INF/RBV offers an alternative for patients without access to all oral direct-acting antivirals. ..
- Harvard C, Malenfant P, Koochek M, Creighton S, Mickelson E, Holden J, et al. A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH. Clin Genet. 2005;67:341-51 pubmed..The clinical description of this proband and the characterization of his 5p deletion may help to further refine the phenotype-genotype associations in CdCs and autism spectrum disorder...
- Kasuga I, Ruan J, Connett J, Anthonisen N, Sandford A. Lack of association of human leukocyte antigen-B7 with COPD and rate of decline in lung function. Respir Med. 2005;99:1528-33 pubmed..There was also no significant association of HLA-B7 with rate of decline of lung function. These data indicate that HLA-B7 does not contribute to COPD or rate of decline of FEV1 in smokers. ..
- Juriloff D, Harris M, McMahon A, Carroll T, Lidral A. Wnt9b is the mutated gene involved in multifactorial nonsyndromic cleft lip with or without cleft palate in A/WySn mice, as confirmed by a genetic complementation test. Birth Defects Res A Clin Mol Teratol. 2006;76:574-9 pubmed..The noncomplementation of clf1 and Wnt9b- confirms that clf1 is a mutation of the Wnt9b gene. The homologous human WNT9B gene and 3' conserved noncoding region should be examined for a role in human nonsyndromic CLP. ..
- Zhang X, Pare P, Sandford A. PMN degranulation in relation to CD63 expression and genetic polymorphisms in healthy individuals and COPD patients. Int J Mol Med. 2007;19:817-22 pubmed..It is likely that genetic variants have limited effect on CD63 expression and MPO release in the context of COPD but their role in other diseases has yet to be determined. ..
- Bretherick K, Hanna C, Currie L, Fluker M, Hammond G, Robinson W. Estrogen receptor alpha gene polymorphisms are associated with idiopathic premature ovarian failure. Fertil Steril. 2008;89:318-24 pubmed..Further studies are necessary to confirm these findings in larger patient samples and to identify the specific predisposing lesion. ..
- He J, Hallstrand T, Knight D, Chan Yeung M, Sandford A, Tripp B, et al. A thymic stromal lymphopoietin gene variant is associated with asthma and airway hyperresponsiveness. J Allergy Clin Immunol. 2009;124:222-9 pubmed publisher..Full results are available online at http://genapha.icapture.ubc.ca/. A genetic variant in the region of the thymic stromal lymphopoietin gene is associated with the phenotypes of asthma and airway hyperresponsiveness. ..
- Wong B, Hossain S, Trinh E, Ottmann G, Budaghzadeh S, Zheng Q, et al. Hyperactivity, startle reactivity and cell-proliferation deficits are resistant to chronic lithium treatment in adult Nr2e1(frc/frc) mice. Genes Brain Behav. 2010;9:681-94 pubmed publisher..Thus, Nr2e1(frc/frc) mice exhibit behavioral traits used to model BP in rodents, but our results do not support Nr2e1(frc/frc) mice as pharmacological models for BP. ..
- Barrett R. Adaptive evolution of lateral plates in three-spined stickleback Gasterosteus aculeatus: a case study in functional analysis of natural variation. J Fish Biol. 2010;77:311-28 pubmed publisher..This work helps elucidate the mechanisms connecting genetic variation with phenotypic variation and fitness in the wild, a synthesis that should be applicable to many other phenotypic traits and species of fishes. ..
- She K, Craig A. NMDA receptors mediate synaptic competition in culture. PLoS ONE. 2011;6:e24423 pubmed publisher..Cell culture assays involving such defined circuits may help uncover the rules and mechanisms of activity-dependent synaptic competition in the developing nervous system. ..
- Swenson L, Dong W, Mo T, Demarest J, Chapman D, Ellery S, et al. Use of cellular HIV DNA to predict virologic response to maraviroc: performance of population-based and deep sequencing. Clin Infect Dis. 2013;56:1659-66 pubmed publisher..However, the PBMC compartment appears to be a suboptimal predictor compared to plasma. ..
- Dore G, Conway B, Luo Y, Janczewska E, Knysz B, Liu Y, et al. Efficacy and safety of ombitasvir/paritaprevir/r and dasabuvir compared to IFN-containing regimens in genotype 1 HCV patients: The MALACHITE-I/II trials. J Hepatol. 2016;64:19-28 pubmed publisher..OBV/PTV/r+DSVÂ±RBV was associated with a generally better mental and physical health, more favorable tolerability, and lower rates of treatment discontinuation due to adverse events. ..
- Foster G, Ferenci P, Asselah T, Mantry P, Dufour J, Bourliere M, et al. Open-label study of faldaprevir plus peginterferon and ribavirin in hepatitis C virus genotype 1-infected patients who failed placebo plus peginterferon and ribavirin. J Viral Hepat. 2016;23:227-31 pubmed publisher..The adverse event profile was consistent with the known safety profile of faldaprevir. ..
- Stoesser N, Sheppard A, Pankhurst L, De Maio N, Moore C, Sebra R, et al. Evolutionary History of the Global Emergence of the Escherichia coli Epidemic Clone ST131. MBio. 2016;7:e02162 pubmed publisher..The diversity of resistance element acquisition and propagation within ST131 indicates a need for control and surveillance strategies that target both bacterial strains and mobile genetic elements. ..
- Gopalan S, Carja O, Fagny M, Patin E, Myrick J, McEwen L, et al. Trends in DNA Methylation with Age Replicate Across Diverse Human Populations. Genetics. 2017;206:1659-1674 pubmed publisher..While many age-related CpG sites replicate across populations, we show that considering common genetic variation at meQTLs further improves our ability to detect previously identified age associations. ..
- Guerrero R, Muir C, Josway S, Moyle L. Pervasive antagonistic interactions among hybrid incompatibility loci. PLoS Genet. 2017;13:e1006817 pubmed publisher..This decoupling effect might explain observed differences between pollen and seed fertility in their fit to theoretical predictions of the accumulation of isolation loci, including the 'snowball' effect. ..
- Downing W, Sullivan S, Gottesman M, Dennis P. Sequence and transcriptional pattern of the essential Escherichia coli secE-nusG operon. J Bacteriol. 1990;172:1621-7 pubmed..The juxtaposition and coregulation of a protein export factor and a transcriptional factor raise questions concerning a functional connection between the two processes. ..
- Lloyd V, Sinclair D, Alperyn M, Grigliatti T. Enhancer of garnet/deltaAP-3 is a cryptic allele of the white gene and identifies the intracellular transport system for the white protein. Genome. 2002;45:296-312 pubmed..This observation supports a role for these genes in intracellular transport and leads to a model whereby incorrect sorting of the white gene product can explain the pigmentation phenotypes of an entire group of eye-color genes...
- Kumar R, Chan K, Wong A, Little K, Rajcan Separovic E, Abrahams B, et al. Unexpected embryonic stem (ES) cell mutations represent a concern in gene targeting: lessons from "fierce" mice. Genesis. 2004;38:51-7 pubmed
- Milnerwood A, Raymond L. Corticostriatal synaptic function in mouse models of Huntington's disease: early effects of huntingtin repeat length and protein load. J Physiol. 2007;585:817-31 pubmed..Furthermore, this study provides a set of neurophysiological sequelae against which to test and compare other mouse models and potential therapies in HD. ..
- Gibson W, Harvard C, Qiao Y, Somerville M, Lewis M, Rajcan Separovic E. Phenotype-genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3. Am J Med Genet A. 2008;146A:225-32 pubmed..We describe detailed molecular cytogenetic and clinical findings relating to a subject with ATR-16. ..
- Schurek K, Sampaio J, Kiffer C, Sinto S, Mendes C, Hancock R. Involvement of pmrAB and phoPQ in polymyxin B adaptation and inducible resistance in non-cystic fibrosis clinical isolates of Pseudomonas aeruginosa. Antimicrob Agents Chemother. 2009;53:4345-51 pubmed publisher..The results presented here suggest that the skipped-well isolates have the ability to adapt to specific concentrations of polymyxin B, inducing known polymyxin B resistance genes involved in generating alterations in the outer membrane. ..
- Devlin A, Brain U, Austin J, Oberlander T. Prenatal exposure to maternal depressed mood and the MTHFR C677T variant affect SLC6A4 methylation in infants at birth. PLoS ONE. 2010;5:e12201 pubmed publisher..These findings support the concept that alterations in epigenetic processes may contribute to developmental programming of behaviour by maternal depression. ..
- Woods C, Brumme C, Liu T, Chui C, Chu A, Wynhoven B, et al. Automating HIV drug resistance genotyping with RECall, a freely accessible sequence analysis tool. J Clin Microbiol. 2012;50:1936-42 pubmed publisher..The time-consuming, error-prone, and dreadfully boring manual sequence analysis step is replaced with a fully automated system without compromising the accuracy of reported HIV drug resistance data. ..
- Lee G, Harrigan P, Dong W, Poon A, Heera J, Demarest J, et al. Comparison of population and 454 "deep" sequence analysis for HIV type 1 tropism versus the original trofile assay in non-B subtypes. AIDS Res Hum Retroviruses. 2013;29:979-84 pubmed publisher..Collective analysis of non-B subtypes revealed a performance similar to subtype B, whereas a subtype-specific analysis revealed overestimation (subtype D) or underestimation (subtype A)...
- Huang K, Ritland K, Dunn D, Qi X, Guo S, Li B. Estimating Relatedness in the Presence of Null Alleles. Genetics. 2016;202:247-60 pubmed publisher..5, the potency of estimation is too low and such a locus should be excluded. We make available a software package entitled PolyRelatedness v1.6, which enables researchers to optimize these estimators to best fit a particular data set. ..
- Orlow I, Reiner A, Thomas N, Roy P, Kanetsky P, Luo L, et al. Vitamin D receptor polymorphisms and survival in patients with cutaneous melanoma: a population-based study. Carcinogenesis. 2016;37:30-8 pubmed publisher..Further investigations are needed to confirm our results and to understand the relationship between VDR and survival in the combined context of tumor and host characteristics. ..
- Gamal El Dien O, Ratcliffe B, KlÃ¡pÅ¡tÄ› J, Porth I, Chen C, El Kassaby Y. Implementation of the Realized Genomic Relationship Matrix to Open-Pollinated White Spruce Family Testing for Disentangling Additive from Nonadditive Genetic Effects. G3 (Bethesda). 2016;6:743-53 pubmed publisher..Clearly, the use of marker-based relationship approach is effective in estimating the quantitative genetic parameters of complex traits even under simple and shallow pedigree structure. ..
- Gastañaduy P, Steenhoff A, Mokomane M, Esona M, Bowen M, Jibril H, et al. Effectiveness of Monovalent Rotavirus Vaccine After Programmatic Implementation in Botswana: A Multisite Prospective Case-Control Study. Clin Infect Dis. 2016;62 Suppl 2:S161-7 pubmed publisher..Undernutrition may in part explain the lower rotavirus VE in low-income settings. ..
- Mattman A, Huntsman D, Lockitch G, Langlois S, Buskard N, Ralston D, et al. Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation. Blood. 2002;100:1075-7 pubmed..This putative mutation was found in a severely affected Portuguese man and 2 family members with the same genotype. In summary, pathologic TfR2 mutations are present outside of Italy, accounting for a small proportion of non-C282Y HH. ..
- Gapare W, Aitken S. Strong spatial genetic structure in peripheral but not core populations of Sitka spruce [Picea sitchensis (Bong.) Carr.]. Mol Ecol. 2005;14:2659-67 pubmed..These data on spatial genetic structure can be used to provide guidance for sampling strategies for both ex situ conservation and research collections. ..
- Shah S, Roth A, Goya R, Oloumi A, Ha G, Zhao Y, et al. The clonal and mutational evolution spectrum of primary triple-negative breast cancers. Nature. 2012;486:395-9 pubmed publisher..Taken together, our results show that understanding the biology and therapeutic responses of patients with TNBC will require the determination of individual tumour clonal genotypes...
- Pussegoda K, Ross C, Visscher H, Yazdanpanah M, Brooks B, Rassekh S, et al. Replication of TPMT and ABCC3 genetic variants highly associated with cisplatin-induced hearing loss in children. Clin Pharmacol Ther. 2013;94:243-51 pubmed publisher..3% and a specificity of 92.7%. These findings provide evidence to support the importance of TPMT, COMT, and ABCC3 in the prediction of cisplatin-induced hearing loss in children. ..
- Salehi S, Steif A, Roth A, Aparicio S, Bouchard Côté A, Shah S. ddClone: joint statistical inference of clonal populations from single cell and bulk tumour sequencing data. Genome Biol. 2017;18:44 pubmed publisher..We show on real and simulated datasets that ddClone produces more accurate results than can be achieved by either method alone. ..
- Yanagida S, Anglesio M, Nazeran T, Lum A, Inoue M, Iida Y, et al. Clinical and genetic analysis of recurrent adult-type granulosa cell tumor of the ovary: Persistent preservation of heterozygous c.402C>G FOXL2 mutation. PLoS ONE. 2017;12:e0178989 pubmed publisher..This report describes the preservation of heterozygous c.402C>G FOXL2 mutation in recurrent aGCTs. This finding adds further credence to the concept that the c.402C>G FOXL2 mutation is oncogenic and integral to this disease. ..
- Clee S, Zhang H, Bissada N, Miao L, Ehrenborg E, Benlian P, et al. Relationship between lipoprotein lipase and high density lipoprotein cholesterol in mice: modulation by cholesteryl ester transfer protein and dietary status. J Lipid Res. 1997;38:2079-89 pubmed
- Bretherick K, Fluker M, Robinson W. FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure. Hum Genet. 2005;117:376-82 pubmed..These results are clinically relevant and suggest that the FMR1 gene plays a more significant role in the incidence of POF than has previously been thought. ..
- Weir T, Mallek N, Sandford A, Bai T, Awadh N, FitzGerald J, et al. beta2-Adrenergic receptor haplotypes in mild, moderate and fatal/near fatal asthma. Am J Respir Crit Care Med. 1998;158:787-91 pubmed..1). We conclude that the beta2AR genotype is not a major determinant of fatal or near-fatal asthma. Furthermore, allele frequency variation among ethnic groups must be considered in clinical studies of beta2AR polymorphisms in asthma. ..
- Sutherland A, Walley K, Manocha S, Russell J. The association of interleukin 6 haplotype clades with mortality in critically ill adults. Arch Intern Med. 2005;165:75-82 pubmed..Haplotype-based analysis succeeded in identifying this association, whereas individual single nucleotide polymorphism-based analysis failed. ..
- Kidd S, Guo H, Bartlett K, Xu J, Kronstad J. Comparative gene genealogies indicate that two clonal lineages of Cryptococcus gattii in British Columbia resemble strains from other geographical areas. Eukaryot Cell. 2005;4:1629-38 pubmed..C. were also present among isolates from other areas of the world, indicating extensive strain dispersal. The nucleotide sequence diversity among isolates from B.C. was similar to that among isolates from other areas of the world. ..
- Heuser M, Yap D, Leung M, de Algara T, Tafech A, McKinney S, et al. Loss of MLL5 results in pleiotropic hematopoietic defects, reduced neutrophil immune function, and extreme sensitivity to DNA demethylation. Blood. 2009;113:1432-43 pubmed publisher..These data warrant investigation of MLL5 expression levels as a predictive marker of demethylating-agent response in patients with myelodysplastic syndromes and leukemias and identify MLL5 as a key regulator of normal hematopoiesis. ..
- Clarke L, Nelson P, Warrington C, Morris C, Hopwood J, Scott H. Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations. Hum Mutat. 1994;3:275-82 pubmed..These mutations are the most frequent MPS I mutations detected so far after W402X and Q70X. With the definition of these two mutations, a clear picture of the molecular heterogeneity of MPS I is emerging. ..
- Kim J, Rensing K, Douglas C, Cheng K. Chromoplasts ultrastructure and estimated carotene content in root secondary phloem of different carrot varieties. Planta. 2010;231:549-58 pubmed publisher..Furthermore, the results confirm that roots of the white carrot variety retain residual amounts of carotene. ..
- Brummelte S, Galea L, Devlin A, Oberlander T. Antidepressant use during pregnancy and serotonin transporter genotype (SLC6A4) affect newborn serum reelin levels. Dev Psychobiol. 2013;55:518-29 pubmed publisher..Our results suggest that prenatal SRI exposure and the SLC6A4 genotype influences reelin protein expression in both the mother and newborn and that this may be reflected in neonatal behavior. ..