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Mutations of the VHL tumour suppressor gene in renal carcinoma
TLDR
The identification of VHL mutations in a majority of localized and advanced sporadic renal carcinomas and in a second form of hereditary renal carcinoma indicates that the VHL gene plays a critical part in the origin of this malignancy.
Comprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma.
TLDR
Type 1 and type 2 papillary renal-cell carcinomas were shown to be different types of renal cancer characterized by specific genetic alterations, with type 2 further classified into three individual subgroups on the basis of molecular differences associated with patient survival.
Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America.
TLDR
The present study shows that mutations in FH are associated with HLRCC in North America, and expands the histologic spectrum of renal tumors and FH mutations associated withHLRCC.
Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling
TLDR
The data suggest that FLCN, mutated in Birt–Hogg–Dubé syndrome, and its interacting partner FNIP1 may be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling pathways.
BHD mutations, clinical and molecular genetic investigations of Birt–Hogg–Dubé syndrome: a new series of 50 families and a review of published reports
TLDR
BHDS is characterised by a spectrum of mutations, and clinical heterogeneity both among and within families, and the first germline missense mutation in BHD c.1978A>G (K508R) is reported.
The genetic basis of kidney cancer: a metabolic disease
TLDR
Mutations in each of these kidney cancer genes result in dysregulation of metabolic pathways involved in oxygen, iron, energy or nutrient sensing, suggesting that kidney cancer is a disease of cell metabolism.
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