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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
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
GenomicsAlzheimer's Disease Sequencing Project (ADSP)

The overarching goals of the ADSP are to: (1) identify new genomic variants contributing to increased risk of developing AD, (2) identify new genomic variants contributing to protection against developing AD, and (3) provide insight as to why individuals with known risk factor variants escape fro...

phs000572.v1.p1 | EGA
UnknownCoronary-artery bypass surgery in patients with left ventricular dysfunction.
Not available
S-EPMC3415273 | biostudies-literature
UnknownMyocardial viability and survival in ischemic left ventricular dysfunction.
Not available
S-EPMC3290901 | biostudies-literature
UnknownCoronary bypass surgery with or without surgical ventricular reconstruction.
Not available
S-EPMC3265934 | biostudies-literature
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