Les ichtyoses congénitales autosomiques récessives : corrélation phénotype–génotype de 41 cas
Sign Up to like & getrecommendations! Published in 2020 at "Annales De Dermatologie Et De Venereologie"
DOI: 10.1016/j.annder.2020.09.376
Abstract: Introduction Les ichtyoses congenitales autosomiques recessives (ARCI) sont des genodermatoses cliniquement et genetiquement heterogenes caracterisees par une desquamation excessive et souvent une erythrodermie. Le but de notre travail etait d’etablir une correlation phenotype–genotype a travers… read more here.
Keywords: mutation gene; notype; dans cas; gene ... See more keywords
Hb Amsterdam-A1 [α32(B13)Met→Ile; HBA1: c.99G>A]: A Hyperunstable Variant Due to a New Mutation on the α1 Gene
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DOI: 10.1080/03630269.2017.1311911
Abstract: Abstract Patients with hyperunstable α chain variants usually present with a thalassemic, rather than hemolytic, phenotype. Electrophoretic, ion exchange and reverse phase separations usually fail to detect the variant and when DNA sequencing identifies a… read more here.
Keywords: ile hba1; mutation gene; b13 met; new mutation ... See more keywords
Association of a STK11/KEAP1-mutation gene expression signature in lung adenocarcinoma with immune desertion in squamous cell carcinomas and mediation by NFE2L2 deregulation.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Oncology"
DOI: 10.1200/jco.2020.38.15_suppl.3082
Abstract: 3082Background: KEAP1 and STK11 mutations are associated with resistance to immune checkpoint inhibition (ICI) in non-small cell lung cancer (NSCLC). Mechanisms are currently unknown. Methods: We e... read more here.
Keywords: mutation gene; association stk11; stk11 keap1; cell ... See more keywords
Comprehensive Analysis Identified Mutation-Gene Signature Impacts the Prognosis Through Immune Function in Hepatocellular Carcinoma
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DOI: 10.3389/fonc.2022.748557
Abstract: Background Hepatocellular carcinoma (HCC) is a life-threatening and refractory malignancy with poor outcome. Genetic mutations are the hallmark of cancer. Thus far, there is no comprehensive prognostic model constructed by mutation-gene transcriptome in HCC. The… read more here.
Keywords: mutation gene; risk; gene signature; mutation ... See more keywords