نتایج جستجو برای: allele substitution effect

تعداد نتایج: 1808406  

2016
Yongfa Jiao Zhongming Jiang Yuxia Wu Xiaochong Chen Xing Xiao Haiying Yu

The effect of single nucleotide polymorphisms (SNPs) at MDM2 has been investigated in several cancer types. Three MDM2 SNPs(rs937283, rs2270744 and rs769412) have previously been suggested to be positively correlated with cancer. In this study, we aimed to explore the association of rs937283, rs2270744 and rs769412 polymorphisms with retinoblastoma (RB) risk, clinicopathological characteristics...

Journal: :The Journal of Experimental Medicine 1980
J S Tung E A Boyse F W Shen

Type-variants of gp70 (glycoprotein-70), which is the major envelope protein of C-type mouse virus and is also found in plasma membranes, are identified immunogenetically by the antigens Gix and Ec. Cellular expression of Gix+ gp70 does not depend on production of virus, but expression of Ec+ gp70 (formerly X-gp70) has been observed only in AKR and other strains of mice that produce large amoun...

Journal: :Journal of bacteriology 2004
Michael J Dougherty Diana M Downs

An allele of rpoD (rpoD1181) that results in increased synthesis of the pyrimidine moiety of thiamine in Salmonella enterica was identified. The S508Y substitution caused by rpoD1181 is analogous to the S506F derivative of the Escherichia coli protein. The properties of this E. coli mutant protein have been well characterized in vitro. Identification of a metabolic phenotype caused by the rpoD1...

Objective(s): Epidermolysis bullosa is one of the most important series of mechano-bullous heritable skin disorders which is categorized into four major types according to the layer that bullae forms within basement membrane zone. In dystrophic form of the disease, blisters are made in the sublamina densa zone, at the level of type VII collagen protein which produce anchoring fibrils. Type VII ...

Journal: :Drug metabolism and pharmacokinetics 2006
Ken-ichi Fujita Yuichi Ando Fumio Nagashima Wataru Yamamoto Hisashi Endo Keiji Kodama Kazuhiro Araki Toshimichi Miya Masaru Narabayashi Yasutsuna Sasaki

We sequenced exon 1 of the UDP-glucuronosyltransferase (UGT) 1A7 gene from 52 Japanese cancer patients. Four single nucleotide polymorphisms (SNPs) were found. Three of them caused UGT1A7*2 and UGT1A7*3. A novel SNP (98973G>C) causing amino acid substitution (Ser141Cys) was found. The sequence is as follows: SNP, 050824FujitaK002; Gene Name, UGT1A7; Accession Number, AF297093; Length, 25 bases;...

2013
Jing Yu Chi-Kuang Wen

Multilevel interactions of the plant hormones ethylene and auxin coordinately and synergistically regulate many aspects of plant growth and development. This study isolated the AUXIN RESISTANT1 (AUX1) allele aux1(rcr1) (RCR1 for REVERSING CTR1-10 ROOT1) that suppressed the root growth inhibition conferred by the constitutive ethylene-response constitutive triple response1-10 (ctr1-10) allele. T...

Journal: :Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2005
Carol Sweeney Maureen A Murtaugh Kathy B Baumgartner Tim Byers Anna R Giuliano Jennifer S Herrick Roger Wolff Bette J Caan Martha L Slattery

Polymorphisms affecting insulin-like growth factors (IGF), their binding proteins (IGFBP), insulin receptor substrates (IRS), and other IGF regulatory molecules may affect growth, obesity, and obesity-related diseases, including cancer. The objective of this study was to better describe the associations between several IGF pathway variants and body size. Hispanic (n = 462) and non-Hispanic Whit...

Journal: :JAMA 2001
P Paassilta J Lohiniva H H Göring M Perälä S S Räinä J Karppinen M Hakala T Palm H Kröger I Kaitila H Vanharanta J Ott L Ala-Kokko

CONTEXT Lumbar disk disease (LDD) is one of the most common musculoskeletal diseases, with a prevalence of about 5%. A tryptophan (Trp) allele (Trp2) was recently discovered in the COL9A2 gene that is associated with dominantly inherited LDD but is only present in about 4% of Finnish patients with LDD. OBJECTIVE To determine if other collagen IX gene sequence variations play a role in the pat...

Journal: :Current Biology 2016
Shingo Nakamura Mohammad Pourkheirandish Hiromi Morishige Yuta Kubo Masako Nakamura Kazuya Ichimura Shigemi Seo Hiroyuki Kanamori Jianzhong Wu Tsuyu Ando Goetz Hensel Mohammad Sameri Nils Stein Kazuhiro Sato Takashi Matsumoto Masahiro Yano Takao Komatsuda

Seed dormancy has fundamental importance in plant survival and crop production; however, the mechanisms regulating dormancy remain unclear [1-3]. Seed dormancy levels generally decrease during domestication to ensure that crops successfully germinate in the field. However, reduction of seed dormancy can cause devastating losses in cereals like wheat (Triticum aestivum L.) and barley (Hordeum vu...

Journal: :Plant Disease 2021

Grapevine powdery mildew (GPM), caused by the fungus Erysiphe necator, is a constant threat to worldwide production of grape berries, requiring repeated use fungicides for management. The frequent fungicide applications have resulted in resistance commonly used quinone outside inhibitor (QoI) and associated with single-nucleotide polymorphisms (SNPs) mitochondrial cytochrome b gene (cytb). In t...

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