Výsledky vyhledávání - "Glenn L. Renforth"

Two children with subtelomeric 11q deletions: a description and interpretation of their clinical presentations and molecular genetic findings

Autor: Caroline Browne, Glenn L. Renforth, Helen Cox, Anneke Lucassen, Tony Salmon, Marlène Rio, David I. Wilson, Lyndsey Craven

Publikováno v: Clinical Dysmorphology. 18:98-102

The phenotypes associated with subtle deletions of the subtelomeric regions of many chromosomes have been reported. This is a detailed description of the clinical characteristics of two children with subtelomeric deletions of the long arm of chromoso

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97ec603fd4a79eb3f4426bb9358256a7
https://doi.org/10.1097/mcd.0b013e3283202a1f

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Subcellular Localization of ALMS1 Supports Involvement of Centrosome and Basal Body Dysfunction in the Pathogenesis of Obesity, Insulin Resistance, and Type 2 Diabetes

Autor: Cosma Spalluto, Neil A. Hanley, Nane Copin, Victoria J. Phillips, David I. Wilson, Tom Hearn, Glenn L. Renforth

Publikováno v: Diabetes. 54:1581-1587

Alström syndrome is a rare autosomal recessive disorder caused by mutations in a novel gene of unknown function, ALMS1. Central features of Alström syndrome include obesity, insulin resistance, and type 2 diabetes, and therefore investigating ALM

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f6317afc749af26827246b9957ac63c
https://doi.org/10.2337/diabetes.54.5.1581

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Narrowing the Critical Region within 11q24–qter for Hypoplastic Left Heart and Identification of a Candidate Gene, JAM3, Expressed during Cardiogenesis

Autor: Beatrice Havarani, Glenn L. Renforth, Helen M. Phillips, Oliver Stumper, Tom Hearn, Cosma Spalluto, Tony Salmon, M Clement-Jones, A Curtis, Lyndsey Craven, Michael S. Jackson, Susie Hutchinson, Carol English, David I. Wilson

Publikováno v: Genomics. 79:475-478

Hypoplastic left heart is a severe human congenital heart defect characterized by left ventricular hypoplasiawith aortic and mitral valve atresia. A genetic etiology is indicated by an association of the hypoplastic left heart phenotype with terminal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69bbe3f0b9995407477d5888ebc60686
https://doi.org/10.1006/geno.2002.6742

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Endoglin, an Ancillary TGFβ Receptor, Is Required for Extraembryonic Angiogenesis and Plays a Key Role in Heart Development

Autor: R. G. Charlton, Helen M. Arthur, Austin G. Diamond, Andrew J.H. Smith, Glenn L. Renforth, Trevor Jowett, D V Parums, Douglas A. Marchuk, Jan Ure, John Burn, Evelyn Torsney, David I. Wilson

Publikováno v: Developmental Biology. 217(1):42-53

Endoglin (CD105) is expressed on the surface of endothelial and haematopoietic cells in mammals and binds TGFbeta isoforms 1 and 3 in combination with the signaling complex of TGFbeta receptors types I and II. Endoglin expression increases during ang

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ff536dfdbfcee043384cde13896818c

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Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome

Autor: Tom Hearn, J F Taylor, Cosma Spalluto, S Brickwood, K Piper, David I. Wilson, Glenn L. Renforth, Mark Walker, Chris White, Vincent Connolly, Neil A. Hanley, Dominique Bonneau, Isabelle Russell-Eggitt

Publikováno v: Nature genetics. 31(1)

Alstrom syndrome (OMIM 203800) is an autosomal recessive disease, characterized by cone-rod retinal dystrophy, cardiomyopathy and type 2 diabetes mellitus, that has been mapped to chromosome 2p13 (refs 1-5). We have studied an individual with Alstrom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a48a0ceda1a218102720e34288c0e71a
https://pubmed.ncbi.nlm.nih.gov/11941370

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