Genomes and Genes
P B Munroe
Affiliation: University College London
- Spectrum of mutations in the Batten disease gene, CLN3P B Munroe
Department of Pediatrics, University College London Medical School, The Rayne Institute, United Kingdom
Am J Hum Genet 61:310-6. 1997..All missense mutations were found to affect residues conserved between the human protein and homologues in diverse species...
- Mutations in the gene encoding the human matrix Gla protein cause Keutel syndromeP B Munroe
Department of Paediatrics, Royal Free and University College Medical School, The Rayne Institute, London, UK
Nat Genet 21:142-4. 1999..69delG, IVS1-2A-->G and c.113T-->A. All three mutations predict a non-functional MGP. Our data indicate that mutations in MGP are responsible for KS and confirm its role in the regulation of extracellular matrix calcification...
- Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3H M Mitchison
Department of Paediatrics, University College London Medical School, Rayne Institute, United Kingdom
Genomics 40:346-50. 1997..CLN3 is homologous to 27 deposited human ESTs, and sequence comparisons suggest alternative splicing of the gene and the existence of transcribed sequences upstream to the start of the published CLN3 cDNA...
- Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic depositsH M Mitchison
Department of Paediatrics, University College London Medical School, The Rayne Institute, 5 University Street, London WC1E 6JJ, UK
Hum Mol Genet 7:291-7. 1998..These results demonstrate that this subtype of JNCL is allelic to INCL and further emphasize the correlation which exists between genetic basis and ultrastructural changes in the NCLs...
- Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5S E Mole
Department of Paediatrics, Royal Free and University College Medical School, University College London, The Rayne Institute, London, United Kingdom
Hum Mutat 14:199-215. 1999..Two of these genes encode lysosomal enzymes, and two encode transmembrane proteins, at least one of which is likely to be in the lysosomal membrane. The basic defect in the NCLs appears to be associated with lysosomal function...
- The atrial natriuretic peptide gene and essential hypertension in African-Caribbeans from St Vincent and the GrenadinesH I Daniel
Department of Clinical Pharmacology, St Bartholomew s Hospital, London, UK
J Hum Hypertens 11:113-7. 1997..We found no association of either Bgl1 and Xho1 RFLPs with EH. This study suggests that the ANP locus may not exert a major gene effect on EH amongst the black people of St Vincent and the Grenadines...
- Identification of a transactivation motif in the CLN3 proteinK Y Leung
Department of Paediatrics, Royal Free and University College London Medical School, Rayne Institute, United Kingdom
IUBMB Life 51:295-8. 2001..A similar motif is also present in the POU domain transcription factor, nubbin. However, this domain alone does not activate transcription, allowing further localisation of the critical residues in CLN3 required for activity...
- Differences between disease-associated endoplasmic reticulum aminopeptidase 1 (ERAP1) isoforms in cellular expression, interactions with tumour necrosis factor receptor 1 (TNF-R1) and regulation by cytokinesN Yousaf
Bone and Joint Research Unit, Queen Mary University of London, London, UK
Clin Exp Immunol 180:289-304. 2015..Our data suggest that ERAP1 isoforms may exhibit differential biological properties and inflammatory mediators could play critical roles in modulating ERAP1 expression, leading to altered functional activities of this enzyme. ..
- Genetics of hypertensionP B Munroe
Department of Clinical Pharmacology, St Bartholomew s, The Royal London School of Medicine and Dentistry, London, EC1M 6BQ, UK
Curr Opin Genet Dev 10:325-9. 2000..Finally, comprehensive single-nucleotide polymorphism analysis of cardiovascular genes has been undertaken using chip technology...
- High quality genomic DNA extraction from postmortem fetal tissueS Addison
Academic Neonatology, Institute for Women s Health, University College London, London, UK
J Matern Fetal Neonatal Med 25:2467-9. 2012..We examined the yield and quality of genomic deoxyribonucleic acid (DNA) extracted from various postmortem fetal tissues...
- Absence of linkage of the epithelial sodium channel to hypertension in black CaribbeansP B Munroe
Department of Paediatrics, University College London Medical School, The Rayne Institute, England
Am J Hypertens 11:942-5. 1998..However, further studies will be needed in larger populations of African ancestry to exclude a contribution of the genes encoding the epithelial sodium channel to hypertension...
- Rapid diagnostic test for the major mutation underlying Batten diseaseI Jarvela
National Public Health Institute, Department of Human Molecular Genetics, Helsinki, Finland
J Med Genet 33:1041-2. 1996..02 kb deletion which is responsible for 81% of affected chromosomes in Batten disease worldwide. In Finland, 90% of Batten chromosomes carry the major deletion owing to the enrichment of the CLN3 gene in the isolated Finnish population...
- A model for Batten disease protein CLN3: functional implications from homology and mutationsR W Janes
Department of Crystallography, Birkbeck College, University of London, UK
FEBS Lett 399:75-7. 1996..We speculate that a possible role for the protein may be in chaperoning the folding/unfolding or assembly/ disassembly of other proteins, specifically subunit c of the mitochondrial ATP synthase complex...
- Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivityL A Metherell
Department of Chemical Endocrinology, St. Bartholomew's Hospital, London EC1A 7BE, United Kingdom
Am J Hum Genet 69:641-6. 2001..The presence of the pseudoexon results in inclusion of an additional 36-amino acid sequence in a region of the receptor known to be involved in homo-dimerization, which is essential for signal transduction...
- Genomic organization and DNA sequence of the human catecholamine-sulfating phenol sulfotransferase gene (STM)T P Dooley
Department of Genetics, Southwest Foundation for Biomedical Research, San Antonio, Texas 78228
Biochem Biophys Res Commun 205:1325-32. 1994..The gene encoding full-length STM is approximately 6.4 kb and contains 8 exons and 7 introns...