نتایج جستجو برای: missense

تعداد نتایج: 12396  

2009
I. Nassiri B. Goliaei M. Tavassoli

The ability to distinguish missense nucleotide substitutions that contribute to harmful effect from those that do not is a difficult problem usually accomplished through functional in vivo analyses. In this study, instead current biochemical methods, the effects of missense mutations upon protein structure and function were assayed by means of computational methods and information from the data...

Journal: :Clinical Cancer Research 2004

Journal: :Human mutation 2008
Elizabeth C Chao Jonathan L Velasquez Mavee S L Witherspoon Laura S Rozek David Peel Pauline Ng Stephen B Gruber Patrice Watson Gad Rennert Hoda Anton-Culver Henry Lynch Steven M Lipkin

Lynch syndrome, also known as hereditary nonpolyposis colon cancer (HNPCC), is the most common known genetic syndrome for colorectal cancer (CRC). MLH1/MSH2 mutations underlie approximately 90% of Lynch syndrome families. A total of 24% of these mutations are missense. Interpreting missense variation is extremely challenging. We have therefore developed multivariate analysis of protein polymorp...

2017
Krittiya Korphaisarn Van Karlyle Morris Michael J. Overman David R. Fogelman Bryan K. Kee Raghav Kanwal Pratap Singh Shanequa Manuel Imad Shureiqi Robert A. Wolff Cathy Eng David Menter Stanley R. Hamilton Scott Kopetz Arvind Dasari

BACKGROUND FBXW7 functions as a ubiquitin ligase tagging multiple dominant oncogenic proteins and commonly mutates in colorectal cancer. Data suggest missense mutations lead to greater loss of FBXW7 function than other gene aberrations do. However, the clinicopathologic factors and outcomes associated with FBXW7 missense mutations in metastatic colorectal cancer (mCRC) have not been described. ...

Journal: :Human molecular genetics 2006
Paulo S Pereira Alexandra Teixeira Sofia Pinho Paulo Ferreira Joana Fernandes Carla Oliveira Raquel Seruca Gianpaolo Suriano Fernando Casares

Germline mutations in the human E-cadherin (hEcad) gene, CDH1, are initiating events in cases of human hereditary diffuse gastric cancer (HDGC) indicating that hEcad is a tumor suppressor. Among the hEcad mutations identified so far, some are missense, but the pathological relevance of these missense mutants is still unclear. In vitro assays show that missense mutations result in full-length hE...

Journal: :Cancer research 2011
Markus P Rechsteiner Adriana von Teichman Anna Nowicka Tullio Sulser Peter Schraml Holger Moch

Mutations of the von Hippel-Lindau (VHL) gene are frequent in clear cell renal cell carcinomas (ccRCC). Nonsense and frameshift mutations abrogate the function of the VHL protein (pVHL), whereas missense mutations can have different effects. To identify those missense mutations with functional consequences, we sequenced VHL in 256 sporadic ccRCC and identified 187 different VHL mutations of whi...

2014
Gengyan Xiong Xiaopeng Chen Dong Fang Xuesong Li Zhisong He Liqun Zhou

Transl Androl Urol, Vol 3, Suppl 1 September 2014 www.amepc.org/tau © Translational Andrology and Urology. All rights reserved. genetic analysis. Result(s): A missense mutation of KAL1, c.1828G>A, led to pVal610Ile substitution in two brothers with KS; their mother is heterozygous for this missense mutation encoded by single-nucleotide polymorphism rs2229013. Conclusions: Mutation analysis reve...

2018
Yanli Luo Wentao Huang Huizhen Zhang Guang Liu

Triple-negative breast cancer (TNBC) is extremely aggressive and associated with poor prognosis. There are no known predictive or prognostic markers for TNBC. Inhibition of tumor protein P53 (TP53) has been demonstrated to increase the levels of cluster of differentiation 117 (CD117) in human colorectal cancer cells. However, the function of TP53 in the regulation of CD117 in TNBC has, to the b...

Journal: :Journal of medical genetics 2004
V Abkevich A Zharkikh A M Deffenbaugh D Frank Y Chen D Shattuck M H Skolnick A Gutin S V Tavtigian

INTRODUCTION Interpretation of results from mutation screening of tumour suppressor genes known to harbour high risk susceptibility mutations, such as APC, BRCA1, BRCA2, MLH1, MSH2, TP53, and PTEN, is becoming an increasingly important part of clinical practice. Interpretation of truncating mutations, gene rearrangements, and obvious splice junction mutations, is generally straightforward. Howe...

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