Search Results - "Mohlke, K L"

BMI loci and longitudinal BMI from adolescence to young adulthood in an ethnically diverse cohort by Graff, M, North, K E, Richardson, A S, Young, K L, Mazul, A L, Highland, H M, Mohlke, K L, Lange, L A, Lange, E M, Mullan Harris, K, Gordon-Larsen, P

“…Objective: The association of obesity susceptibility variants with change in body mass index (BMI) across the life course is not well understood. Subjects: In…”
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Replication of the association between variants in WFS1 and risk of type 2 diabetes in European populations by Franks, P. W, Rolandsson, O, Debenham, S. L, Fawcett, K. A, Payne, F, Dina, C, Froguel, P, Mohlke, K. L, Willer, C, Olsson, T, Wareham, N. J, Hallmans, G, Barroso, I, Sandhu, M. S

“…Aims/hypothesis Mutations at the gene encoding wolframin (WFS1) cause Wolfram syndrome, a rare neurological condition. Associations between single nucleotide…”
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A mechanism for low penetrance in an ALS family with a novel SOD1 deletion by ZINMAN, L, LIU, H. N, ROGAEVA, E, SATO, C, WAKUTANI, Y, MARVELLE, A. F, MORENO, D, MORRISON, K. E, MOHLKE, K. L, BILBAO, J, ROBERTSON, J

“…About 20% of familial amyotrophic lateral sclerosis (ALS) is caused by mutations in SOD1 and is typically transmitted as an autosomal dominant trait. However,…”
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Variation in the resistin gene is associated with obesity and insulin-related phenotypes in Finnish subjects by CONNEELY, K. N, SILANDER, K, COLLINS, F. S, BOEHNKE, M, SCOTT, L. J, MOHLKE, K. L, LAZARIDIS, K. N, VALLE, T. T, TUOMILEBTO, J, BERGMAN, R. N, WATANABE, R. M, BUCHANAN, T. A

“…Resistin is a peptide hormone produced by adipocytes that is present at high levels in sera of obese mice and may be involved in glucose homeostasis through…”
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Moderate to vigorous physical activity interactions with genetic variants and body mass index in a large US ethnically diverse cohort by Richardson, A. S., North, K. E., Graff, M., Young, K. M., Mohlke, K. L., Lange, L. A., Lange, E. M., Harris, K. M., Gordon-Larsen, P.

“…Summary What is already known about this subject Genome‐Wide Association Studies have successfully identified numerous genetic loci that influence body mass…”
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The interaction between physical activity and obesity gene variants in association with BMI: Does the obesogenic environment matter? by Graff, M., Richardson, A.S., Young, K.L., Mazul, A.L., Highland, Heather, North, K.E., Mohlke, K.L., Lange, L.A., Lange, E.M., Harris, K.M., Gordon-Larsen, P.

“…Little is known about how obesity susceptibility single nucleotide polymorphisms (SNPs) interact with moderate to vigorous physical activity (MVPA) in relation…”
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Screen time behaviours may interact with obesity genes, independent of physical activity, to influence adolescent BMI in an ethnically diverse cohort by Graff, M., North, K. E., Richardson, A. S., Young, K. M., Mohlke, K. L., Lange, L. A., Lange, E. M., Harris, K. M., Gordon-Larsen, P.

“…Summary Background There has been little investigation of gene‐by‐environment interactions related to sedentary behaviour, a risk factor for obesity defined as…”
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Estimation of genetic effects on BMI during adolescence in an ethnically diverse cohort: The National Longitudinal Study of Adolescent Health by Graff, M, North, K E, Mohlke, K L, Lange, L A, Luo, J, Harris, K M, Young, K L, Richardson, A S, Lange, E M, Gordon-Larsen, P

“…Objective: The contribution of genetic variants to body mass index (BMI) during adolescence across multiethnic samples is largely unknown. We selected genetic…”
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Assessment of familial risk in patients with hidradenitis suppurativa by Bruinsma, R. L., Fajgenbaum, K., Yang, Y., Mar Melendez‐Gonzalez, M., Mohlke, K. L., Li, Y., Sayed, C.

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Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants by Mohlke, Karen L., Boehnke, Michael, Abecasis, Gonçalo R.

“…Genome-wide association studies are providing new insights into the genetic basis of metabolic and cardiovascular traits. In the past 3 years, common variants…”
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Multi-ethnic fine-mapping of 14 central adiposity loci by Liu, Ching-Ti, Buchkovich, Martin L, Winkler, Thomas W, Heid, Iris M, Borecki, Ingrid B, Fox, Caroline S, Mohlke, Karen L, North, Kari E, Adrienne Cupples, L

“…The Genetic Investigation of Anthropometric Traits (GIANT) consortium identified 14 loci in European Ancestry (EA) individuals associated with waist-to-hip…”
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Genetic risk score and adiposity interact to influence triglyceride levels in a cohort of Filipino women by Zubair, N, Mayer-Davis, E J, Mendez, M A, Mohlke, K L, North, K E, Adair, L S

“…Background/Objectives: Individually, genetic variants only moderately influence cardiometabolic (CM) traits, such as lipid and inflammatory markers. In this…”
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Replication of LIN28B SNP association with age of menarche in young Filipino women by Croteau-Chonka, D. C., Lange, L. A., Lee, N. R., Adair, L. S., Mohlke, K. L.

“…Summary Background Age of menarche, or the timing of first menses in girls, is a physiological trait that shows substantial genetic heritability. Earlier age…”
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High-Throughput Screening for Evidence of Association by Using Mass Spectrometry Genotyping on DNA Pools by Mohlke, Karen L., Erdos, Michael R., Scott, Laura J., Fingerlin, Tasha E., Jackson, Anne U., Silander, Kaisa, Hollstein, Pablo, Boehnke, Michael, Collins, Francis S.

“…To facilitate positional cloning of complex trait susceptibility loci, we are investigating methods to reduce the effort required to identify trait-associated…”
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Mvwf, a Dominant Modifier of Murine von Willebrand Factor, Results from Altered Lineage-Specific Expression of a Glycosyltransferase by Mohlke, Karen L., Purkayastha, Anjali A., Westrick, Randal J., Smith, Peter L., Petryniak, Bronia, Lowe, John B., Ginsburg, David

“…We have identified altered lineage-specific expression of an N-acetylgalactosaminyltransferase gene, Galgt2, as the gain-of-function mechanism responsible for…”
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Mitochondrial polymorphisms and susceptibility to type 2 diabetes-related traits in Finns by MOHLKE, Karen L, JACKSON, Anne U, NARISU, Narisu, ENLOE, Sareena, VALLE, Timo T, TUOMILEHTO, Jaakko, BERGMAN, Richard N, BOEHNKE, Michael, COLLINS, Francis S, SCOTT, Laura J, PECK, Erin C, SUH, Yong D, CHINES, Peter S, WATANABE, Richard M, BUCHANAN, Thomas A, CONNEELY, Karen N, ERDOS, Michael R

“…Mitochondria play an integral role in ATP production in cells and are involved in glucose metabolism and insulin secretion, suggesting that variants in the…”
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Comparative Mapping of Distal Murine Chromosome 11 and Human 17q21.3 in a Region Containing a Modifying Locus for Murine Plasma von Willebrand Factor Level by Mohlke, Karen L., Purkayastha, Anjali A., Westrick, Randal J., Ginsburg, David

“…Type 1 von Willebrand disease (VWD) is a common inherited disorder characterized by mild to moderate bleeding and reduced levels of von Willebrand factor…”
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Replication of the association between variants in WFS1 and risk of type 2 diabetes in European populations by Franks, P. W., Rolandsson, O., Debenham, S. L., Fawcett, K. A., Payne, F., Dina, C., Froguel, P., Mohlke, K. L., Willer, C., Olsson, T., Wareham, N. J., Hallmans, G., Barroso, I., Sandhu, M. S.

“…Mutations at the gene encoding wolframin (WFS1) cause Wolfram syndrome, a rare neurological condition. Associations between single nucleotide polymorphisms…”
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A common frameshift mutation in von Willebrand factor does not alter mRNA stability but interferes with normal propeptide processing by Mohlke, K L, Nichols, W C, Rehemtulla, A, Kaufman, R J, Fagerström, H M, Ritvanen, K L, Kekomăki, R, Ginsburg, D

“…Quantitative defects in von Willebrand factor (VWF) result in type 1 and type 3 von Willebrand disease (VWD). This study characterizes the defect in VWF…”
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Linkage disequilibrium between microsatellite markers extends beyond 1 cM on chromosome 20 in Finns by Mohlke, K L, Lange, E M, Valle, T T, Ghosh, S, Magnuson, V L, Silander, K, Watanabe, R M, Chines, P S, Bergman, R N, Tuomilehto, J, Collins, F S, Boehnke, M

“…Linkage disequilibrium (LD) is a proven tool for evaluating population structure and localizing genes for monogenic disorders. LD-based methods may also help…”
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