نتایج جستجو برای: gnb3 gene

تعداد نتایج: 1141400  

Journal: :Respiration; international review of thoracic diseases 2016
Rintaro Nishimura Nobuhiro Tanabe Ayumi Sekine Hajime Kasai Rika Suda Fumiaki Kato Takayuki Jujo Toshihiko Sugiura Ayako Shigeta Seiichiro Sakao Koichiro Tatsumi

BACKGROUND The insertion/deletion (I/D) polymorphism in the angiotensin-converting enzyme gene (ACE) and the C825T polymorphism in the G-protein β3 subunit gene (GNB3) are associated with the efficacy of phosphodiesterase-5 inhibitor (PDE-5I) in erectile dysfunction. In addition, GNB3 genotypes could be associated with clinical worsening in pulmonary hypertension (PH) treated with PDE-5I. Howev...

Journal: :Investigative ophthalmology & visual science 2006
Hemanth Tummala Manir Ali Paul Getty Paul M Hocking David W Burt Chris F Inglehearn Douglas H Lester

PURPOSE To identify the gene defect that causes blindness and the predisposition to embryonic death in the retinopathy globe enlarged (rge) chicken. METHODS Linkage analysis, with previously uncharacterized microsatellite markers from chicken chromosome 1, was performed on 138 progeny of an rge/+ and an rge/rge cross, and candidate genes were sequenced. RESULTS The rge locus was refined and...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2013
Ian S Goldlust Karen E Hermetz Lisa M Catalano Richard T Barfield Rebecca Cozad Grace Wynn Alev Cagla Ozdemir Karen N Conneely Jennifer G Mulle Shikha Dharamrup Madhuri R Hegde Katherine H Kim Brad Angle Alison Colley Amy E Webb Erik C Thorland Jay W Ellison Jill A Rosenfeld Blake C Ballif Lisa G Shaffer Laurie A Demmer M Katharine Rudd

Obesity is a highly heritable condition and a risk factor for other diseases, including type 2 diabetes, cardiovascular disease, hypertension, and cancer. Recently, genomic copy number variation (CNV) has been implicated in cases of early onset obesity that may be comorbid with intellectual disability. Here, we describe a recurrent CNV that causes a syndrome associated with intellectual disabil...

2014
M. Sawczuk A. Maciejewska-Karłowska P. Cięszczyk A. Leońska-Duniec

UNLABELLED The GNB3 gene encodes the beta 3 subunit of heterotrimeric G-proteins that are key components of intracellular signal transduction between G protein-coupled receptors (GPCR) and intracellular effectors and might be considered as a potential candidate gene for physical performance. OBJECTIVES The aim of this study was to compare frequency distribution of the common C to T polymorphi...

Journal: :Journal of affective disorders 2014
Chad A Bousman Maria Potiriadis Ian P Everall Jane M Gunn

BACKGROUND Genetic variation in the G-protein β3 subunit (GNB3) has previously been associated with gene splicing that has been further linked to increased signal transduction and major depressive disorder. However, the effect of GNB3 genetic variation on depressive symptom trajectories is currently unknown. The aim of the present study is to examine whether genetic variation in GNB3 moderates ...

Journal: :Physiological genomics 2002
Tuomo Rankinen Treva Rice Arthur S Leon James S Skinner Jack H Wilmore D C Rao Claude Bouchard

A C825T polymorphism of the G protein beta3 (GNB3) gene has been reported to be associated with hypertension and obesity. We analyzed the associations between the GNB3 C825T polymorphism and hemodynamic and body composition phenotypes in the sedentary state and their responses to endurance training in mainly normotensive white (n = 473) and black (n = 255) men and women. Blood pressure (BP) and...

Journal: :Hypertension 1998
R A Hegele S B Harris A J Hanley H Cao B Zinman

The subunits of the heterotrimeric G proteins are attractive candidate gene products for both susceptibility to essential hypertension and interindividual variation in blood pressure. There is alternative splicing of exon 9 of the gene encoding the beta3 subunit of heterotrimeric G proteins (GNB3) associated with a C-->T change at nucleotide 825, which activates a cryptic splice site. The 825T ...

2013
Rahul Kumar Samantha Kohli Perwez Alam Ritankur Barkotoky Mohit Gupta Sanjay Tyagi S. K. Jain M. A. Qadar Pasha

BACKGROUND The genes FTO and GNB3 are implicated in essential hypertension but their interaction remains to be explored. This study investigates the role of interaction between the two genes in the pathophysiology of essential hypertension. METHODS/PRINCIPAL FINDINGS In a case-control study comprising 750 controls and 550 patients, interaction between the polymorphisms of FTO and GNB3 was exa...

Journal: :European heart journal 2002
C K Naber D Baumgart R Erbel

Meirhaeghe et al. recently showed that the T allele of a C vs T exchange at position 825 of the gene encoding for the beta3 subunit of heterotrimeric G proteins (GNB3) is associated with enhanced coronary constriction after intracoronary administration of methylergonovine. The 825T allele has also been shown to be associated with an enhanced response after activation of G protein coupled recept...

1998
Yong Qing Gao Michael Danciger Novrouz B. Akhmedov Dan Yun Zhao John R. Heckenlively Gerald A. Fishman Richard G. Weleber Samuel G. Jacobson Debora B. Farber

Methods: Exons of the two genes were screened for mutations by denaturing gradient gel electrophoresis (DGGE) and/or single strand conformation polymorphism electrophoresis (SSCP); any variants were sequenced directly. Results :Although many sequence variants were found in both genes, none could be associated with disease. Additionally, the gene structure and sequence of the coding exons of GNB...

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