Research Topics
| J R SampsonSummaryAffiliation: Cardiff University Country: UK Publications
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Detail Information
Publications
Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 geneJ R Sampson
Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, United Kingdom
Am J Hum Genet 61:843-51. 1997..Significant renal cystic disease in tuberous sclerosis usually reflects mutational involvement of the PKD1 gene, and mosaicism for large deletions of TSC2 and PKD1 is a frequent phenomenon...
The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosisM M Maheshwar
Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK
Hum Mol Genet 6:1991-6. 1997..The high proportion of missense mutations detected in the region of the TSC2 gene encoding the GAP-related domain supports its key role in the regulation of cellular growth...- Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberinA K Hodges
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, UK
Hum Mol Genet 10:2899-905. 2001..These results indicate a requirement for interaction in critical growth suppressing functions of hamartin and tuberin... - Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosisA C Jones
Institute of Medical Genetics, University of Wales College of Medicine, Cardiff CF4 4XN, United Kingdom
Am J Hum Genet 64:1305-15. 1999..These data provide the first representative picture of the distribution and spectrum of mutations across the TSC1 and TSC2 loci in clinically ascertained TSC and support a difference in severity of TSC1- and TSC2-associated disease... - Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and locationJ P Cheadle
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, CF14 4XN, UK
Hum Mol Genet 9:1119-29. 2000..0023), and milder disease was associated with late as compared with early truncating mutations ( P = 0.0190)... - Comparative analysis and genomic structure of the tuberous sclerosis 2 (TSC2) gene in human and pufferfishM M Maheshwar
Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK
Hum Mol Genet 5:131-7. 1996..These findings support the proposal of the Fugu genome as a tool for human gene analysis... - Molecular genetic advances in tuberous sclerosisJ P Cheadle
Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK
Hum Genet 107:97-114. 2000..We also present the first comprehensive compilation and analysis of all reported TSC1 and TSC2 mutations, consider their diagnostic implications and review genotype/phenotype relationships... - Analysis of the TSC1 and TSC2 genes in sporadic renal cell carcinomasL Parry
Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, CF14 4XN, UK
Br J Cancer 85:1226-30. 2001..These data indicate that biallelic inactivation of TSC1 or TSC2 is not frequent in sporadic RCC and suggests that the molecular mechanisms of renal carcinogenesis in TSC are likely to be distinct... - TSC1 and TSC2: genes that are mutated in the human genetic disorder tuberous sclerosisJ R Sampson
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF14 8XN, UK
Biochem Soc Trans 31:592-6. 2003..Drugs that act to inhibit this pathway may have therapeutic potential for tuberous sclerosis and the related disorder lymphangioleiomyomatosis... - Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosisA C Jones
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, CF4 4XN, UK
Hum Mol Genet 6:2155-61. 1997..We conclude that there is a reduced risk of mental retardation in TSC1 as opposed to TSC2 disease and that consequent ascertainment bias, at least in part, explains the relative paucity of TSC1 mutations in sporadic TSC... - Genomic organization and comparative analysis of the mouse tuberous sclerosis 1 (Tsc1) locusJ P Cheadle
Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK
Mamm Genome 11:1135-8. 2000 - Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndromeP T Brook-Carter
Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK
Nat Genet 8:328-32. 1994..Analysis of the deletions indicates that they inactivate PKD1, in contrast to the mutations reported in ADPKD patients, where in each case abnormal transcripts have been detected... - Ethical approval for research involving geographically dispersed subjects: unsuitability of the UK MREC/LREC system and relevance to uncommon genetic disordersJ C Lewis
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, Wales, UK
J Med Ethics 27:347-51. 2001..As such studies differ from true multicentre studies, it may be advantageous to develop a separate and specific process of application to ensure that resources are not unnecessarily expended in the quest for ethical approval... - Increased frequency of the k-ras G12C mutation in MYH polyposis colorectal adenomasS Jones
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, UK
Br J Cancer 90:1591-3. 2004..002), and all resulted in a glycine-to-cysteine substitution at codon 12... - The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitinationG Benvenuto
Laboratory of Cellular Oncology, National Cancer Institute, Bethesda, Maryland, MD 20892, USA
Oncogene 19:6306-16. 2000..We conclude that hamartin is a growth inhibitory protein whose biological effect is likely dependent on its interaction with tuberin... - Tuberous sclerosis causing mutants of the TSC2 gene product affect proliferation and p27 expressionT Soucek
Obstetrics and Gynecology, University of Vienna, Prenatal Diagnosis and Therapy, , A-1090 Vienna, Austria
Oncogene 20:4904-9. 2001..These results demand reassessment of previous hypotheses of the pathogenesis of TSC... - Identification of a leader exon and a core promoter for the rat tuberous sclerosis 2 (Tsc2) gene and structural comparison with the human homologT Kobayashi
Department of Experimental Pathology, Cancer Institute, 1 37 1 Kami Ikebukuro, Toshima ku, Tokyo 170, Japan
Mamm Genome 8:554-8. 1997..Characterization of the 5' region of Tsc2 and TSC2 will facilitate studies of the regulation of the gene and its disregulation in tumorigenesis... - Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34M van Slegtenhorst
Department of Clinical Genetics, Erasmus University and University Hospital, Rotterdam, Netherlands
Science 277:805-8. 1997..In one of these six, a somatic mutation in the wild-type allele was found in a TSC-associated renal carcinoma, which suggests that hamartin acts as a tumor suppressor... - Genotype and psychological phenotype in tuberous sclerosisJ C Lewis
J Med Genet 41:203-7. 2004 - Alternative splicing of the tuberous sclerosis 2 (TSC2) gene in human and mouse tissuesL Xu
Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown 02129, USA
Genomics 27:475-80. 1995..The distinct polypeptides encoded by the TSC2 gene may have different targets as well as functions involved in the regulation of cell growth... - Gorlin syndrome: identification of 4 novel germ-line mutations of the human patched (PTCH) gene. Mutations in brief no. 137. OnlineK Hasenpusch-Theil
Imperial Cancer Research Fund, MAMM Rm 101, P O Box 123, London WC2A 3PX, England
Hum Mutat 11:480. 1998..All mutations lead to truncation of the predicted protein product. Also included is a list of putative polymorphic nucleotide postions in the sequence covered by published primers... - Cloning and characterization of a functional human homolog of Escherichia coli endonuclease IIIR Aspinwall
Medical Research Council Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom
Proc Natl Acad Sci U S A 94:109-14. 1997..coli endonuclease III, and that this class of enzymes, for repair of oxidatively damaged pyrimidines in DNA, is highly conserved in evolution from microorganisms to human cells...