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
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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