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GenomicsA novel recurrent mutation in MITF predisposes to familial and sporadic melanoma

We conducted whole-genome sequencing of probands from several melanoma families, identifying one individual carrying a novel germline variant (c.G1075A, NM_000248.3; p.E318K, NP_000239.1; rs149617956) in the melanoma lineage-specific oncogene MITF. While the variant cosegregated with melanoma in ...

phs000419.v1.p1 | EGA
UnknownHigh-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations.
Not available
S-EPMC7002524 | biostudies-literature
UnknownVitamin D insufficiency in COVID-19 and influenza A, and critical illness survivors: a cross-sectional study.
Not available
S-EPMC8728359 | biostudies-literature
TranscriptomicsA novel recurrent mutation in MITF predisposes to familial and sporadic melanoma
We identified a novel germline mutation of the microphthalmia-associated transcription factor (MITF - E318K). This mutation was found to be present in numerous melanoma families, as well as the general population, where its association with melanoma has a significant effect. We determined the effe...
ORGANISM(S): Homo sapiens 
2011-12-01 | E-GEOD-31269 | biostudies-arrayexpress
UnknownClinical characteristics of children and young people admitted to hospital with covid-19 in United Kingdom: prospective multicentre observational cohort study.
Not available
S-EPMC7488201 | biostudies-literature
UnknownComprehensive molecular characterization of mitochondrial genomes in human cancers.
Not available
S-EPMC7058535 | biostudies-literature
UnknownSARS-CoV-2 Omicron-B.1.1.529 leads to widespread escape from neutralizing antibody responses.
Not available
S-EPMC8723827 | biostudies-literature
UnknownCo-infections, secondary infections, and antimicrobial use in patients hospitalised with COVID-19 during the first pandemic wave from the ISARIC WHO CCP-UK study: a multicentre, prospective cohort study.
Not available
S-EPMC8172149 | biostudies-literature
UnknownDelayed Mucosal Antiviral Responses Despite Robust Peripheral Inflammation in Fatal COVID-19.
Not available
S-EPMC11272059 | biostudies-literature
UnknownCharacterisation of in-hospital complications associated with COVID-19 using the ISARIC WHO Clinical Characterisation Protocol UK: a prospective, multicentre cohort study.
Not available
S-EPMC8285118 | biostudies-literature
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