Results 201 to 210 of about 45,802 (236)

Isocitrate Dehydrogenase Mutations in Cancer: From Bench to Bedside Applications

open access: yesMedComm, Volume 7, Issue 5, May 2026.
Mutant isocitrate dehydrogenase affects multiple cancer types. Alterations in IDH1 and IDH2 result in abnormal enzyme activity, leading to the overproduction of D‐2‐hydroxyglutarate (D‐2HG). This metabolite disrupts cellular metabolism and epigenetic regulation, driving cancer initiation, progression, and metastasis.
Yuhan Fang   +6 more
wiley   +1 more source

Mitochondrial Transplantation as a Therapeutic Strategy for Inherited Mitochondrial Diseases. [PDF]

open access: yesAdv Sci (Weinh)
Singh P   +17 more
europepmc   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

open access: yesPregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld   +5 more
wiley   +1 more source

MELAS‐Like Mitochondrial Encephalopathy With Catatonia Associated With a Pathogenic MT‐ND3 (m.10158 T > C) Mutation: A Case Report and Literature Review

open access: yesProgress in Neurology and Psychiatry, Volume 30, Issue 2, May 2026.
Abstract Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke‐like episodes (MELAS) is a rare multisystem mitochondrial disorder primarily caused by mutations in mitochondrial DNA. While it typically presents with stroke‐like episodes, seizures, and lactic acidosis, recent evidence highlights a broader clinical spectrum, including ...
Faezeh Khorshidian   +3 more
wiley   +1 more source

Metabolic-Immune Crosstalk in Pediatric Rheumatology: From Pathogenesis to Precision Therapy. [PDF]

open access: yesIran J Child Neurol
Shashaani N   +4 more
europepmc   +1 more source

Mitochondrial PDHA1 acetylation orchestrates lactate-dependent epigenetic reprogramming to promote fibrosis via NUAK2. [PDF]

open access: yesCell Mol Life Sci
Wang Y   +11 more
europepmc   +1 more source

Sspdhx Related to the Development and Virulence of Sclerotinia sclerotiorum Represents a Potential RNAi Target for Controlling Sclerotinia Disease. [PDF]

open access: yesMol Plant Pathol
Shang Q   +14 more
europepmc   +1 more source

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