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Article

Distinct expression profile in fumarate-hydratase-deficient uterine fibroids.

Human molecular genetics - 1 Jan 2006

Vanharanta Sakari, Pollard Patrick J, Lehtonen Heli J, Laiho Päivi, Sjöberg Jari, Leminen Arto, Aittomäki Kristiina, Arola Johanna, Kruhoffer Mogens, Orntoft Torben F, Tomlinson Ian P, Kiuru Maija, Arango Diego, Aaltonen Lauri A

Abstract excerpt

Defects in mitochondrial enzymes predispose to severe developmental defects as well as tumorigenesis. Heterozygous germline mutations in the nuclear gene encoding fumarate hydratase (FH), an enzyme catalyzing the hydration of fumarate in the Krebs tricarboxylic acid cycle, cause hereditary leiomyomatosis and renal cell cancer; yet the connection between disruption of mitochondrial metabolic pathways and neoplasia...

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PMID: 16319128
DOI: 10.1093/hmg/ddi431

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Distinct expression profile in fumarate-hydratase-deficient uterine fibroids.PMID 16319128Read ↗

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.Semantic proximity Read ↗

Implications of Fumarate Hydratase Deficiency (FHD) and Cancer Risk: A Window into the Clinical and Oncological Implications of a Rare Disorder in GynecologySemantic proximity Read ↗

Proteogenomic landscape of uterine leiomyomas from hereditary leiomyomatosis and renal cell cancer patients.Semantic proximity Read ↗

Functional Characterization of FH Mutation c.557G>A Underlies Uterine Leiomyomas.Semantic proximity Read ↗

Fumarate Hydratase-deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings.Semantic proximity Read ↗

A role for cytosolic fumarate hydratase in urea cycle metabolism and renal neoplasia.Semantic proximity Read ↗

Clinical and biochemical heterogeneity associated with fumarase deficiency.Semantic proximity Read ↗

Prevalence of somatic and germline mutations of Fumarate hydratase in uterine leiomyomas from young patientsSemantic proximity Read ↗

Multiple Hits for the Association of Uterine Fibroids on Human Chromosome 1q43Semantic proximity Read ↗

Fumarate hydratase (FH) and cancer: a paradigm of oncometabolismSemantic proximity Read ↗

Advances in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) research.Semantic proximity Read ↗

Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variantsSemantic proximity Read ↗

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