In Silico-Based Structural Evaluation to Categorize the Pathogenicity of Mutations Identified in the RAD Class of Proteins
Sign Up to like & getrecommendations! Published in 2023 at "ACS Omega"
DOI: 10.1021/acsomega.2c07802
Abstract: RAD genes, known as double-strand break repair proteins, play a major role in maintaining the genomic integrity of a cell by carrying out essential DNA repair functions via double-strand break repair pathways. Mutations in the… read more here.
Keywords: pathogenicity; rad class; mutations identified; class proteins ... See more keywords
Structural and functional characterization of novel F7 mutations identified in Chinese factor VII-deficient patients.
Sign Up to like & getrecommendations! Published in 2023 at "British journal of haematology"
DOI: 10.1111/bjh.18768
Abstract: Hereditary factor VII (FVII) deficiency is a rare recessive bleeding disorder with an estimated prevalence of 1/500 000. We had investigated 50 unrelated Chinese patients with FVII deficiency and identified, in total, 25 mutations, including 18… read more here.
Keywords: factor vii; missense mutations; factor; mutations identified ... See more keywords
Abstract 5457: Structural and functional assessment of mutations identified in different breast cancer genes
Sign Up to like & getrecommendations! Published in 2020 at "Cancer Research"
DOI: 10.1158/1538-7445.am2020-5457
Abstract: Atomic protein structure helps in understanding the functions associated with protein molecule. Therefore, it is very important to correlate the structural information from the biological functions of proteins for translational research. So far, BRCA1 and… read more here.
Keywords: protein; breast; breast cancer; mutations identified ... See more keywords
Clinical characteristics and spectrum of NF1 mutations in 12 unrelated Chinese families with neurofibromatosis type 1
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DOI: 10.1186/s12881-018-0615-8
Abstract: BackgroundNeurofibromatosis type 1 (NF1) is a common autosomal dominant disorder caused by a heterozygous germline mutation in the tumor suppressor gene NF1. Because of the existence of highly homologous pseudogenes, the large size of the… read more here.
Keywords: nf1 mutations; spectrum nf1; mutations identified; unrelated chinese ... See more keywords
Cystic Fibrosis in the African Diaspora
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DOI: 10.1513/annalsats.201606-481fr
Abstract: &NA; Identifying mutations that cause cystic fibrosis (CF) is important for making an early, unambiguous diagnosis, which, in turn, is linked to better health and a greater life expectancy. In patients of African descent, a… read more here.
Keywords: cystic fibrosis; fibrosis; patients african; mutations identified ... See more keywords