Novel IRF6 mutations in Chinese Han families with Van der Woude syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1196
Abstract: Interferon Regulatory Factor 6 (IRF6) gene encodes a member of the IRF family of transcription factors. Mutations in IRF6 cause Van der Woude Syndrome (VWS), which is the most common malformation of syndromic orofacial clefts… read more here.
Keywords: van der; der woude; novel irf6; mutations chinese ... See more keywords
Germline mutations in Chinese ovarian cancer with or without breast cancer
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1940
Abstract: Ovarian and breast cancers are known to have significant genetic components. Considering the differences in the mutation spectrum across ethnicity, it is important to identify hereditary breast and ovarian cancer (HBOC) genes mutation in Chinese… read more here.
Keywords: chinese ovarian; mutations chinese; germline mutations; ovarian cancer ... See more keywords
SURF1 mutations in Chinese patients with Leigh syndrome: Novel mutations, mutation spectrum, and the functional consequences.
Sign Up to like & getrecommendations! Published in 2018 at "Gene"
DOI: 10.1016/j.gene.2018.06.058
Abstract: SURF1 is an assembly factor of mitochondrial complex IV, and its mutations are the primary cause of Leigh syndrome in infants. To date, over 100 SURF1 mutations have been reported worldwide, but the spectrum of… read more here.
Keywords: leigh syndrome; surf1 mutations; mutations chinese; patients leigh ... See more keywords
Clinical spectrum and gene mutations in a Chinese cohort with anoctaminopathy
Sign Up to like & getrecommendations! Published in 2019 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2019.06.005
Abstract: Recessive mutations in anoctamin-5 (ANO5) are responsible for limb-girdle muscular dystrophy (LGMD) 2 L and non-dysferlin Miyoshi-like distal myopathy. ANO5 mutations are prevalent in European countries, however it is not common in patients of Asian origin… read more here.
Keywords: gene mutations; chinese cohort; spectrum gene; mutations chinese ... See more keywords
Analysis of SOD1 mutations in a Chinese population with amyotrophic lateral sclerosis: a case-control study and literature review
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DOI: 10.1038/srep44606
Abstract: Although the copper/zinc superoxide dismutase-1 (SOD1) gene has been identified in both familial ALS (FALS) and sporadic ALS (SALS), it has rarely been studied in Chinese patients with ALS, and there are few studies with… read more here.
Keywords: mutations chinese; sod1 mutations; mutation; literature review ... See more keywords
Characters of germline mutations in Chinese non-small cell lung cancer patients.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Oncology"
DOI: 10.1200/jco.2020.38.15_suppl.e13542
Abstract: e13542Background: Environment factors are associated with lung cancer occurrence. Genetic susceptibility to lung cancer remains unclear. This study assessed germline mutations in Chinese non-small-... read more here.
Keywords: chinese non; mutations chinese; lung cancer; germline mutations ... See more keywords
Analysis of BRCA Germline Mutations in Chinese Prostate Cancer Patients
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Oncology"
DOI: 10.3389/fonc.2022.746102
Abstract: Recent studies have indicated that prostate cancer (PCa) with BRCA2 mutations is more aggressive. However, these reports mostly focused on Caucasus populations, and large-scale studies on BRCA mutations in Chinese PCa populations remain limited. Herein,… read more here.
Keywords: germline mutations; germline; mutations chinese; brca1 germline ... See more keywords