نتایج جستجو برای: ژن mlh3

تعداد نتایج: 15882  

Journal: :Human molecular genetics 2015
John W Kunstman C Christofer Juhlin Gerald Goh Taylor C Brown Adam Stenman James M Healy Jill C Rubinstein Murim Choi Nimrod Kiss Carol Nelson-Williams Shrikant Mane David L Rimm Manju L Prasad Anders Höög Jan Zedenius Catharina Larsson Reju Korah Richard P Lifton Tobias Carling

Anaplastic thyroid carcinoma (ATC) is a frequently lethal malignancy that is often unresponsive to available therapeutic strategies. The tumorigenesis of ATC and its relationship to the widely prevalent well-differentiated thyroid carcinomas are unclear. We have analyzed 22 cases of ATC as well as 4 established ATC cell lines using whole-exome sequencing. A total of 2674 somatic mutations (121/...

Journal: :Sao Paulo medical journal = Revista paulista de medicina 2009
Felipe Cavalcanti Carneiro da Silva Mev Dominguez Valentin Fábio de Oliveira Ferreira Dirce Maria Carraro Benedito Mauro Rossi

Lynch syndrome represents 1-7% of all cases of colorectal cancer and is an autosomal-dominant inherited cancer predisposition syndrome caused by germline mutations in deoxyribonucleic acid (DNA) mismatch repair genes. Since the discovery of the major human genes with DNA mismatch repair function, mutations in five of them have been correlated with susceptibility to Lynch syndrome: mutS homolog ...

2011
Anna Kouznetsova Ricardo Benavente Albert Pastink Christer Höög

The synaptonemal complex (SC) promotes fusion of the homologous chromosomes (synapsis) and crossover recombination events during meiosis. The SC displays an extensive structural conservation between species; however, a few organisms lack SC and execute meiotic process in a SC-independent manner. To clarify the SC function in mammals, we have generated a mutant mouse strain (Sycp1(-/-)Sycp3(-/-)...

2014
Stefano La Rosa Daniela Furlan Francesca Franzi Paolo Battaglia Milo Frattini Elena Zanellato Alessandro Marando Nora Sahnane Mario Turri-Zanoni Paolo Castelnuovo Carlo Capella

Sinonasal intestinal-type adenocarcinomas (ITACs) are rare neoplasms histologically resembling intestinal adenocarcinomas. Although a neuroendocrine differentiation in ITACs has been described, true mixed exocrine-neuroendocrine carcinomas, neoplasms in which each component represents at least 30 % of the lesion, are extremely rare and their molecular alterations are largely unknown. We describ...

2012
Matjaz Vogelsang Yabing Wang Nika Veber Lamech M. Mwapagha M. Iqbal Parker

The DNA mismatch repair (MMR) enzymes repair errors in DNA that occur during normal DNA metabolism or are induced by certain cancer-contributing exposures. We assessed the association between 10 single-nucleotide polymorphisms (SNPs) in 5 MMR genes and oesophageal cancer risk in South Africans. Prior to genotyping, SNPs were selected from the HapMap database, based on their significantly differ...

Journal: :The Journal of infectious diseases 2015
Athanasios Desalermos Xiaojiang Tan Rajmohan Rajamuthiah Marios Arvanitis Yan Wang Dedong Li Themistoklis K Kourkoumpetis Beth Burgwyn Fuchs Eleftherios Mylonakis

A multi-host approach was followed to screen a library of 1201 signature-tagged deletion strains of Cryptococcus neoformans mutants to identify previously unknown virulence factors. The primary screen was performed using a Caenorhabditis elegans-C. neoformans infection assay. The hits among these strains were reconfirmed as less virulent than the wild type in the insect Galleria mellonella-C. n...

Journal: :Journal of Investigative Dermatology 2022

Basal cell carcinoma (BCC) is the most common malignancy worldwide with more than 4 million new cases annually in US. Though BCCs develop from UV radiation, host genetics also play a role, as demonstrated by patients Cell Nevus Syndrome (BCNS), who carry germline PTCH1 mutations. Genome-wide association studies have identified genetic polymorphisms associated BCC. Interestingly, frequent BCC de...

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