Mutation update: The spectra of PLEC sequence variants and related plectinopathies
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24434
Abstract: Plectin, encoded by PLEC, is a cytoskeletal linker of intermediate filaments expressed in many cell types. Plectin consists of three main domains that determine its functionality: the N‐terminal domain, the Rod domain, and the C‐terminal… read more here.
Keywords: plec; mutation update; variants related; ebs ... See more keywords
Report of two pedigrees with heterozygous HTRA1 variants‐related cerebral small vessel disease and literature review
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2032
Abstract: Biallelic HTRA1 pathogenic variants are associated with autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). Recent studies have indicated that heterozygous HTRA1 variants are related to autosomal dominant hereditary cerebral small vessel disease… read more here.
Keywords: variants related; heterozygous htra1; vessel disease; htra1 variants ... See more keywords
MAPK7 variants related to prognosis and chemotherapy response in osteosarcoma.
Sign Up to like & getrecommendations! Published in 2020 at "Annals of diagnostic pathology"
DOI: 10.1016/j.anndiagpath.2020.151482
Abstract: Osteosarcoma (OS) is a class of cancer originating from the bone, affecting mainly children and young adults. Our previous study showed that MAPK7 gene overexpression was significantly associated with tumor progression, poor treatment response, and… read more here.
Keywords: chemotherapy; mapk7; response; variants related ... See more keywords
Corrigendum re "Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma" [Eur Urol 2017;72:747-54].
Sign Up to like & getrecommendations! Published in 2018 at "European urology"
DOI: 10.1016/j.eururo.2018.05.017
Abstract: It has come to our attention that authors Lenka Foretova, Ivana Holcatova, Vladimir Janout, Dana Mates, Anush Mukeriya, Stefan Rascu, David Zaridze, Vladimir Bencko, and Cezary Cybulski were not assigned to the correct affiliations. Their… read more here.
Keywords: corrigendum genetic; variants related; genetic variants; telomere length ... See more keywords
Association of Copresence of Pathogenic Variants Related to Amyotrophic Lateral Sclerosis and Prognosis.
Sign Up to like & getrecommendations! Published in 2023 at "Neurology"
DOI: 10.1212/wnl.0000000000207367
Abstract: OBJECTIVE Despite recent advances, it is not clear whether the various genes/genetic variants related to ALS interact in modifying patients phenotype. The aim of this study was to determine if the co-presence of genetic variants… read more here.
Keywords: pathogenic variants; variants related; association copresence; 001 survival ... See more keywords
Use of Polypharmacy and Emergence of COVID-19 Variants - Is It Co-Related?
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DOI: 10.2174/1574886317666220328155207
Abstract: read more here.
Keywords: polypharmacy emergence; variants related; covid variants; use polypharmacy ... See more keywords