Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids.

The journal of obstetrics and gynaecology research - 1 Jan 2013

Kubinova Kristyna, Tesarova Marketa, Hansikova Hana, Vesela Kamila, Kuzel David, Mara Michal

Abstract excerpt

Fumarate hydratase (FH) is a key enzyme of the Krebs cycle. Germline mutations in the FH gene encoding fumarate hydratase cause autosomal dominant syndromes multiple cutaneous and uterine leiomyomata and hereditary leiomyomatosis and renal cell cancer (HLRCC). Few data have been published on the role of FH gene mutation in development of uterine fibroids outside the context of multiple cutaneous and uterine...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Fumarate Hydratase
Share to Leiomyoma

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Treatment Outcome

Share to Ultrasonography

Share to Uterine Neoplasms

Source

Identifiers

PMID: 22764886
DOI: 10.1111/j.1447-0756.2012.01939.x

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids.PMID 22764886Read ↗

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

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

Association of Germline Mutations in the Fumarate Hydratase Gene and Uterine Fibroids in Women With Hereditary Leiomyomatosis and Renal Cell CancerSemantic proximity Read ↗

Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer.Semantic proximity Read ↗

Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors.Semantic proximity Read ↗

Clinical and molecular genetic aspects of hereditary multiple cutaneous leiomyomatosis.Semantic proximity Read ↗

Novel fumarate hydratase mutation in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer.Semantic proximity Read ↗

Germline Fumarate Hydratase Mutations in Families with Multiple Cutaneous and Uterine LeiomyomataSemantic proximity Read ↗

Novel Fumarate Hydratase Mutation in Siblings With Early Onset Uterine Leiomyomas and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome.Semantic proximity Read ↗

Multiple cutaneous leiomyomas leading to discovery of novel splice mutation in the fumarate hydratase gene associated with HLRCC.Semantic proximity Read ↗

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 ↗

⌁Select a neighboring publication to make it the new centre.