• Publications
  • Influence
Role of the WNK-activated SPAK kinase in regulating blood pressure
The results imply that SPAK inhibitors would be effective at reducing blood pressure by lowering phosphorylation as well as expression of NCC and NKCC2. Expand
Important role of the LKB1-AMPK pathway in suppressing tumorigenesis in PTEN-deficient mice.
The results demonstrate the potential of AMPK activators, such as clinically approved metformin, as anticancer agents, which will suppress tumour development by triggering a physiological signalling pathway that potently inhibits cell growth. Expand
The Heidelberg classification of renal cell tumours
This paper presents the conclusions of a workshop entitled ‘Impact of Molecular Genetics on the Classification of Renal Cell Tumours’, which was held in Heidelberg in October 1996 and is applicable to routine diagnostic practice. Expand
The candidate Wilms' tumour gene is involved in genitourinary development
In situ messenger RNA hybridization on sections of human embryos and Wilms' tumours suggests that the associated genital abnormalities are pleiotropic effects of mutation in the Wilms’ tumour gene itself, in support of recent genetic analysis11. Expand
Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency.
It is concluded that MCUL is probably a genetically homogeneous tumour predisposition syndrome, primarily resulting from absent or severely reduced fumarase activity, with currently unknown functional consequences for the smooth muscle or kidney cell. Expand
The RNA helicase p68 is a novel androgen receptor coactivator involved in splicing and is overexpressed in prostate cancer.
Findings implicate p68 as a novel AR transcriptional coactivator that is significantly overexpressed in PCa with a possible role in progression to hormone-refractory disease. Expand
Controlled Hypertension, a Transgenic Toggle Switch Reveals Differential Mechanisms Underlying Vascular Disease*
Kinetic evidence suggests that locally activated plasma prorenin may play a critical role in mediating vascular injury, and Quantitative analysis of morphological changes induced in mesenteric resistance arteries suggest eutrophic remodeling of the vessels. Expand
Cystic fibrosis in the mouse by targeted insertional mutagenesis
In vivo electrophysiology demonstrates the predicted defect in chloride ion transport in these mice and can distinguish between each genotype, and provides a valid model system for the development and testing of therapies for cystic fibrosis patients. Expand
Succinate Dehydrogenase (SDH)-deficient Renal Carcinoma: A Morphologically Distinct Entity
  • A. Gill, O. Hes, +35 authors K. Trpkov
  • Medicine, Biology
  • The American journal of surgical pathology
  • 14 November 2014
Although this tumor may undergo dedifferentiation and metastasize, sometimes after a prolonged delay, metastatic disease is rare in the absence of high-grade nuclear atypia or coagulative necrosis and showing a strong relationship with SDH germline mutation. Expand
Renal Tumors Associated With Germline SDHB Mutation Show Distinctive Morphology
It is concluded that morphology supported by negative immunohistochemistry for SDHB can be used to identify kindreds with germline SDHB mutations (PGL4 syndrome) presenting with this unique type of renal tumor. Expand