نتایج جستجو برای: synonymous snp

تعداد نتایج: 31794  

2016
Valentina Cigliola Celine Populaire Ciro L. Pierri Samuel Deutsch Jacques-Antoine Haefliger João Fadista Valeriya Lyssenko Leif Groop Rico Rueedi Fabrizio Thorel Pedro Luis Herrera Paolo Meda

Signalling through gap junctions contributes to control insulin secretion and, thus, blood glucose levels. Gap junctions of the insulin-producing β-cells are made of connexin 36 (Cx36), which is encoded by the GJD2 gene. Cx36-null mice feature alterations mimicking those observed in type 2 diabetes (T2D). GJD2 is also expressed in neurons, which share a number of common features with pancreatic...

2015
Dina F. Ahram Sinisa D. Grozdanic Helga Kecova Arjen Henkes Rob W. J. Collin Markus H. Kuehn

Several dog breeds are susceptible to developing primary angle closure glaucoma (PACG), which suggests a genetic basis for the disease. We have identified a four-generation Basset Hound pedigree with characteristic autosomal recessive PACG that closely recapitulates PACG in humans. Our aim is to utilize gene mapping and whole exome sequencing approaches to identify PACG-causing sequence variant...

2012
Amy R. Johnson Sai Lao Tongwen Wang Joseph A. Galanko Steven H. Zeisel

Approximately 15% of couples are affected by infertility and up to half of these cases arise from male factor infertility. Unidentified genetic aberrations such as chromosomal deletions, translocations and single nucleotide polymorphisms (SNPs) may be the underlying cause of many cases of idiopathic male infertility. Deletion of the choline dehydrogenase (Chdh) gene in mice results in decreased...

2016
Naveen Malik Nidhi Dwivedi Ashok K. Singh Swarup K. Parida Pinky Agarwal Jitendra K. Thakur Akhilesh K. Tyagi

The present study deployed a Mediator (MED) genes-mediated integrated genomic strategy for understanding the complex genetic architecture of grain size/weight quantitative trait in rice. The targeted multiplex amplicon resequencing of 55 MED genes annotated from whole rice genome in 384 accessions discovered 3971 SNPs, which were structurally and functionally annotated in diverse coding and non...

Journal: :Annals of medicine 2008
Minna K Karjalainen Ritva Haataja Mikko Hallman

BACKGROUND Adenosine triphosphate (ATP)-binding cassette transporter A3 (ABCA3) gene mutations cause fatal respiratory failure in term infants, but common ABCA3 polymorphisms have remained uncharacterized at the population level. AIM To define a subset of tagging single-nucleotide polymorphisms (tSNPs) which capture most of the variation within the ABCA3 gene, and to assess ABCA3 as a novel c...

2012
Sebastian Weis Moritz Jesinghaus Peter Kovacs Dorit Schleinitz Robert Schober Claudia Ruffert Max Herms Henning Wittenburg Michael Stumvoll Matthias Blüher Robert Grützmann Hans-Ulrich Schulz Volker Keim Joachim Mössner Peter Bugert Heiko Witt Joost P. H. Drenth Knut Krohn Jonas Rosendahl

BACKGROUND Heme oxygenase 1 (HMOX1) is the rate limiting enzyme in heme degradation and a key regulator of inflammatory processes. In animal models the course of pancreatitis was ameliorated by up-regulation of HMOX1 expression. Additionally, carbon monoxide released during heme breakdown inhibited proliferation of pancreatic stellate cells and might thereby prevent the development of chronic p...

2016
Hong Luo Wenming Zhao Yanqing Wang Yan Xia Xiaoyuan Wu Limin Zhang Bixia Tang Junwei Zhu Lu Fang Zhenglin Du Wubishet A. Bekele Shuaishuai Tai David R. Jordan Ian D. Godwin Rod J. Snowdon Emma S. Mace Hai-Chun Jing Jingchu Luo

BACKGROUND Sorghum (Sorghum bicolor) is one of the most important cereal crops globally and a potential energy plant for biofuel production. In order to explore genetic gain for a range of important quantitative traits, such as drought and heat tolerance, grain yield, stem sugar accumulation, and biomass production, via the use of molecular breeding and genomic selection strategies, knowledge o...

Journal: :Molecular biology and evolution 2005
Tim J C Anderson Shalini Nair Dan Sudimack Jeff T Williams Mayfong Mayxay Paul N Newton Jean-Paul Guthmann Frank M Smithuis Tinh Hien Tran Ingrid V F van den Broek Nicholas J White François Nosten

Loci targeted by directional selection are expected to show elevated geographical population structure relative to neutral loci, and a flurry of recent papers have used this rationale to search for genome regions involved in adaptation. Studies of functional mutations that are known to be under selection are particularly useful for assessing the utility of this approach. Antimalarial drug treat...

Ganesh Doss, Manivasagam B Nandhini Nimal T. Raveendran Rahul Nair, Thilaga Sethuraman Thirupati C. Venkateswarulu Vijaya R. Dirisala

Background: Most of the amino acids are encoded by more than one codon, termed as synonymous codons. Synonymous codon usage is not random as it is unique to species. In each amino acid family, some synonymous codons are preferred and this is referred to as synonymous codon usage bias (SCUB). Trends associated with evolution of SCUB and factors influencing its diversification in plastomes of gen...

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