Associated Papers
Fumarate inhibits PTEN to promote tumorigenesis and therapeutic resistance of type2 papillary renal cell carcinoma.
Ge X et al.
Molecular Cell, 2022
Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.
Popp B et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020
32612247 (PubMed )
Supplement: 41379_2020_596_MOESM2_ESM.xlsx › FH_LOVD
Clinical and biochemical heterogeneity associated with fumarase deficiency.
Ottolenghi C et al.
Human Mutation, 2011
Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status.
Bardella C et al.
The Journal of Pathology, 2011
Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics.
Lehtonen HJ
Familial Cancer, 2011
Structural basis of fumarate hydratase deficiency.
Picaud S et al.
Journal of Inherited Metabolic Disease, 2011
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.
Smit DL et al.
Clinical Genetics, 2011
The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency.
Bayley JP et al.
Bmc Medical Genetics, 2008
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