Results 241 to 250 of about 2,396,315 (311)

Mitochonic acid 5 alleviates amyotrophic lateral sclerosis phenotypes via mitochondrial augmentation. [PDF]

open access: yesJCI Insight
Oikawa Y   +24 more
europepmc   +1 more source

APOBEC3 activity and DNA polymerase‐ε deficiency are associated with distinct IDH1 R132 hotspot mutations

open access: yesMolecular Oncology, EarlyView.
Isocitrate dehydrogenase 1 (IDH1) mutations are highly recurrent in multiple human cancer types, including cholangiocarcinoma and glioma. IDH1 R132C is the most common IDH1 mutation in cholangiocarcinoma and likely arises from APOBEC3A‐ or APOBEC3B‐mediated deamination.
Kelly E. Butler   +3 more
wiley   +1 more source

p190A/ARHGAP35 and p190B/ARHGAP5 proteins in endometrial cancer: a novel cancer‐relevant paralog interplay

open access: yesMolecular Oncology, EarlyView.
This study identifies ARHGAP5, in addition to the frequently mutated ARHGAP35, as significantly mutated in endometrial cancer. Mutations in both genes co‐occur and are associated with their correlated downregulation. Functional CRISPR studies show that both paralogs regulate similar pathways, including actin cytoskeleton organization.
Mathilde Pinault   +12 more
wiley   +1 more source

Lichen sclerosus. Part 2. Guideline of the DGG, DGGG, OEGGG and SGGG (S3-Level, AWMF Registry No. 013-105, July 2025. [PDF]

open access: yesGeburtshilfe Frauenheilkd
Kirtschig G   +25 more
europepmc   +1 more source

Familial, neuropathological and cellular analysis identify ARPP21 as a major amyotrophic lateral sclerosis associated gene in French cohorts. [PDF]

open access: yesActa Neuropathol
de Bertier S   +22 more
europepmc   +1 more source

Histone modification dynamics in brain aging: unlocking therapeutic potential. [PDF]

open access: yesCell Death Dis
Chang B   +7 more
europepmc   +1 more source

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