O'Connor Matthew S MS

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Stable nuclear expression of ATP8 and ATP6 genes rescues a mtDNA Complex V null mutant

We explore the possibility of re-engineering mitochondrial genes and expressing them from the nucleus as an approach to rescue defects arising from mitochondrial DNA mutations. We have used a patient cybrid cell line with a single point mutation in the overlap region of the ATP8 and ATP6 genes of th...

ORGANISM(S): Homo Sapiens (human)

2016-08-12 | MSV000080037 | MassIVE

A 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

A 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

Reconstructing evolutionary trajectories of mutation signature activities in cancer using TrackSig.

Not available

S-EPMC7002414 | biostudies-literature

Enhancing cognitive performance prediction by white matter hyperintensity connectivity assessment.

Not available

S-EPMC11629703 | biostudies-literature

Effect of Hydroxychloroquine in Hospitalized Patients with Covid-19.

Not available

S-EPMC7556338 | biostudies-literature

Azithromycin in patients admitted to hospital with COVID-19 (RECOVERY): a randomised, controlled, open-label, platform trial.