نتایج جستجو برای: synonymous snp

تعداد نتایج: 31794  

Armaghan Fard-Esfahani, Bahareh Ghanbarzadeh, Mina Majdi, Parinaz Saidi, Pezhman Fard-Esfahani, Reyhaneh Mohabati, Seyed Kazem Bidoki, Shima Fayaz,

Background: X-ray repair cross-complementing group 1 (XRCC1) gene is a DNA repair gene and its non-synonymous single nucleotide polymorphisms (SNP) may influence DNA repair capacity which has been considered as a modifying risk factor for cancer development. Methods: A case-control study was conducted to investigate impact of three frequently studied polymorphisms (Arg194Trp, Arg280His and Arg3...

Introduction: Parkinson Disease (PD), the second most common chronic neurodegenerative disorder, is characterized by tremor, bradykinesia, rigidity, and postural instability. SHANK3 (SH3 and multiple ankyrin repeat domain 3) belongs to the extremely conserved ProSAP/ Shank family of synaptic scaffolding proteins. Meanwhile, rs9616915 is a non-synonymous SNP (T>C) located in the exon 6 of the SH...

2013
Matthew McClure Euisoo Kim Derek Bickhart Daniel Null Tabatha Cooper John Cole George Wiggans Paolo Ajmone-Marsan Licia Colli Enrico Santus George E. Liu Steve Schroeder Lakshmi Matukumalli Curt Van Tassell Tad Sonstegard

Bovine Progressive Degenerative Myeloencephalopathy (Weaver Syndrome) is a recessive neurological disease that has been observed in the Brown Swiss cattle breed since the 1970's in North America and Europe. Bilateral hind leg weakness and ataxia appear in afflicted animals at 6 to 18 months of age, and slowly progresses to total loss of hind limb control by 3 to 4 years of age. While Weaver has...

2016
Vijee Mohan Soni Gupta Sherinmol Thomas Hanjabam Mickey Chaitanya Charakana Vineeta Singh Chauhan Kapil Sharma Rakesh Kumar Kamal Tyagi Supriya Sarma Suresh Kumar Gupta Himabindu Vasuki Kilambi Sapana Nongmaithem Alka Kumari Prateek Gupta Yellamaraju Sreelakshmi Rameshwar Sharma

Domestication of tomato has resulted in large diversity in fruit phenotypes. An intensive phenotyping of 127 tomato accessions from 20 countries revealed extensive morphological diversity in fruit traits. The diversity in fruit traits clustered the accessions into nine classes and identified certain promising lines having desirable traits pertaining to total soluble salts (TSS), carotenoids, ri...

2010
Melissa Edwards Abigail Bigham Jinze Tan Shilin Li Agnes Gozdzik Kendra Ross Li Jin Esteban J. Parra

The last decade has witnessed important advances in our understanding of the genetics of pigmentation in European populations, but very little is known about the genes involved in skin pigmentation variation in East Asian populations. Here, we present the results of a study evaluating the association of 10 Single Nucleotide Polymorphisms (SNPs) located within 5 pigmentation candidate genes (OCA...

2017
Tajia L. Green Kelly Tung Debora Lim Stacey M. Leventhal Kiho Cho David G. Greenhalgh

Glucocorticoids are one of the most widely used therapeutics in the treatment of a variety of inflammatory disorders. However, it is known that there are variable patient responses to glucocorticoid treatment; there are responders and non-responders, or those that need higher dosages. Polymorphisms in the glucocorticoid receptor (GR) have been implicated in this variability. In this study, nine...

2010
Oliver Niehuis Joshua D. Gibson Michael S. Rosenberg Bart A. Pannebakker Tosca Koevoets Andrea K. Judson Christopher A. Desjardins Kathleen Kennedy David Duggan Leo W. Beukeboom Louis van de Zande David M. Shuker John H. Werren Jürgen Gadau

Homologous meiotic recombination occurs in most sexually reproducing organisms, yet its evolutionary advantages are elusive. Previous research explored recombination in the honeybee, a eusocial hymenopteran with an exceptionally high genome-wide recombination rate. A comparable study in a non-social member of the Hymenoptera that would disentangle the impact of sociality from Hymenoptera-specif...

2016
Qifeng Ma Man Wu Wenfeng Pei Xiaoyan Wang Honghong Zhai Wenkui Wang Xingli Li Jinfa Zhang Jiwen Yu Shuxun Yu

As the longest known single-celled trichomes, cotton (Gossypium L.) fibers constitute a classic model system to investigate cell initiation and elongation. In this study, we used a high-throughput transcriptome sequencing technology to identify fiber-initiation-related single nucleotide polymorphism (SNP) markers and differentially expressed genes (DEGs) between the wild-type (WT) Upland cotton...

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