21 Result(s)

Chapter

Is Selenium Deficiency the Cause of Uraemic Cardiomyopathy?

We studied the relationship between serum selenium (Se) and left ventricular performance in 33 patients on maintenance haemodialysis. Low serum Se was frequent. However, there were no significant differences i...

E. R. Maher, B. Sampson, J. R. Curtis in Uremic Toxins (1987)

Article

Physical map** of chromosome 3p25-p26 by flourescence in situ hybridisation (FISH)

As part of our effort to isolate and characterise the von Hippel-Lindau (VHL) disease gene, we constructed a physical map of chromosome 3p25-26 by fluorescence in situ hybridisation (FISH) studies on a panel o...

M. E. Phipps, E. R. Maher, N. A. Affara, F. Latif, M. A. Leversha… in Human Genetics (1993)

Chapter

Molecular Genetics of Wilms’ Tumour and Renal Cell Carcinoma

It is now generally accepted that cancer is caused by an accumulation of genetic mutations. However, only a small proportion of cancer-associated gene mutations are inherited (i.e. are germline mutations); the...

E. R. Maher in Tumours in Urology (1994)

Article

Irish college of ophthalmologists

N. Abdulla, B. Lanigan, M. O’Keefe, R. Bowell… in Irish Journal of Medical Science (1995)

Article

Long polymerase chain reaction in detection of germline deletions in the von Hippel-Lindau tumour suppressor gene

Experimental conditions for detection of germline deletions of the von Hippel-Lindau (VHL) gene by means of long polymerase chain reaction have been established. Primers were designed to analyse the VHL gene i...

C. Cybulski, K. Krzystolik, E.R. Maher, S. Richard, G. Kurzawski… in Human Genetics (1999)

Article

Analysis of the TSC1and TSC2genes in sporadic renal cell carcinomas

The genetic events involved in the aetiology of non-clear-cell renal cell carcinoma (RCC) and a proportion of clear cell RCC remain to be defined. Germline mutations of the TSC1and TSC2genes cause tuberous sclero...

L Parry, J H Maynard, A Patel, S C Clifford, C Morrissey… in British Journal of Cancer (2001)

Article

Identification of novel VHL targets that are associated with the development of renal cell carcinoma

von Hippel–Lindau (VHL) disease is a dominantly inherited family cancer syndrome characterized by the development of retinal and central nervous system haemangioblastomas, renal cell carcinoma (RCC) and phaeoc...

M Abdulrahman, E N Maina, M R Morris, M Zatyka, R R Raval, R E Banks… in Oncogene (2007)

Article

Epigenetic regulation of the ras effector/tumour suppressor RASSF2 in breast and lung cancer

RASSF2 is a recently identified member of a class of novel tumour suppressor genes, all containing a ras-association domain. RASSF2 resides at 20p13, a region frequently lost in human cancers. In this report w...

W N Cooper, R E Dickinson, A Dallol, E V Grigorieva, T V Pavlova, L B Hesson… in Oncogene (2008)

Article

SDHB-associated renal oncocytoma suggests a broadening of the renal phenotype in hereditary paragangliomatosis

Mutations in SDHB are one of the causes of hereditary paraganglioma syndrome. Germline mutations in SDHB predispose to the development of head and neck paragangliomas and phaeochromocytomas. Renal tumours are ...

Alex Henderson, F. Douglas, P. Perros, C. Morgan, E. R. Maher in Familial Cancer (2009)

Article

Identification of candidate tumour suppressor genes frequently methylated in renal cell carcinoma

Promoter region hyermethylation and transcriptional silencing is a frequent cause of tumour suppressor gene (TSG) inactivation in many types of human cancers. Functional epigenetic studies, in which gene expre...

M R Morris, C Ricketts, D Gentle, M Abdulrahman, N Clarke, M Brown, T Kishida… in Oncogene (2010)

Article

The RASSF8 candidate tumor suppressor inhibits cell growth and regulates the Wnt and NF-κB signaling pathways

The Ras-assocation domain family (RASSF) of tumor suppressor proteins until recently contained six proteins named RASSF1–6. Recently, four novel family members, RASSF7–10, have been identified by homology searche...

F E Lock, N Underhill-Day, T Dunwell, D Matallanas, W Cooper, L Hesson… in Oncogene (2010)

Article

Epigenetic inactivation of the RASSF10 candidate tumor suppressor gene is a frequent and an early event in gliomagenesis

We have recently described the N-terminal RAS association domain family of genes, RASSF7–10. Previously, we cloned the N-terminal RASSF10 gene and demonstrated frequent methylation of the associated 5′-CpG island...

V K Hill, N Underhill-Day, D Krex, K Robel, C B Sangan, H R Summersgill… in Oncogene (2011)

Article

Genome-wide methylation analysis identifies epigenetically inactivated candidate tumour suppressor genes in renal cell carcinoma

The detection of promoter region hypermethylation and transcriptional silencing has facilitated the identification of candidate renal cell carcinoma (RCC) tumour suppressor genes (TSGs). We have used a genome-...

M R Morris, C J Ricketts, D Gentle, F McRonald, N Carli, H Khalili, M Brown… in Oncogene (2011)

Article

Risk of cancer other than breast or ovarian in individuals with BRCA1 and BRCA2 mutations

The risks of cancers other than breast and ovarian amongst BRCA1 and BRCA2 mutation carriers are based on relatively few family based studies with the risk of specific cancers tested in population based samples o...

A. Moran, C. O’Hara, S. Khan, L. Shack, E. Woodward, E. R. Maher… in Familial Cancer (2012)