Zobrazeno 1 - 10 of 209 pro vyhledávání: '"Cf, Inglehearn"'
1
Recombination between rhodopsin and locus D3S47 (C17) in rhodopsin retinitis pigmentosa families
Autor: Cf, Inglehearn, Dh, Lester, Bashir R, Atif U, Tj, Keen, Sertedaki A, Janet Lindsey, Jay M, Ac, Bird, Gj, Farrar
Publikováno v: Europe PubMed Central
Autosomal dominant retinitis pigmentosa (adRP) has shown linkage to the chromosome 3q marker C17 (D3S47) in two large adRP pedigrees known as TCDM1 and adRP3. On the basis of this evidence the rhodopsin gene, which also maps to 3q, was screened for m
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::1403f5d5e2d6eb78ef3e90afd0a6d64c
https://pubmed.ncbi.nlm.nih.gov/1539595
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2
Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline----histidine substitution (codon 23) in pedigrees from Europe
Autor: Gj, Farrar, Kenna P, Redmond R, McWilliam P, Daniel G Bradley, Mm, Humphries, Em, Sharp, Cf, Inglehearn, Bashir R, Jay M
Publikováno v: Europe PubMed Central
In exon 1 at codon 23 of the rhodopsin gene, a mutation resulting in a proline-to-histidine substitution has previously been observed in approximately 12% of American autosomal dominant retinitis pigmentosa (ADRP) patients. The region around the site
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::30500294d1088659c5cd13fcb3f405a7
https://pubmed.ncbi.nlm.nih.gov/2239971
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7
A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1
Autor: Al-Araimi M, Pal B, James Poulter, Mm, Genderen, Carr I, Cudrnak T, Brown L, Sheridan E, Md, Mohamed, Bradbury J, Ali M, Cf, Inglehearn, Toomes C
Publikováno v: Europe PubMed Central
PURPOSE: We have previously described two families with unique phenotypes involving foveal hypoplasia. The first family (F1) presented with foveal hypoplasia and anterior segment dysgenesis, and the second family (F2) presented with foveal hypoplasia
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::48e303221dfd31242e05de009a1e5b02
http://europepmc.org/abstract/med/24194637
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8
Akademický článek
Glycogen myophosphorylase loss causes increased dependence on glucose in iPSC-derived retinal pigment epithelium.
Autor: Basu B; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK., Karwatka M; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK., China B; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK., McKibbin M; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK; Department of Ophthalmology, St James's University Hospital, Leeds, UK., Khan K; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK., Inglehearn CF; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK., Ladbury JE; School of Molecular and Cellular Biology, University of Leeds, Leeds, UK., Johnson CA; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK. Electronic address: c.johnson@leeds.ac.uk.
Publikováno v: The Journal of biological chemistry [J Biol Chem] 2024 Aug; Vol. 300 (8), pp. 107569. Date of Electronic Publication: 2024 Jul 14.
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9
Akademický článek
Biallelic variants in Plexin B2 ( PLXNB2 ) cause amelogenesis imperfecta, hearing loss and intellectual disability.
Autor: Smith CEL; Institute of Medical Research, St James's University Hospital, University of Leeds Faculty of Medicine and Health, Leeds, UK bgycels@leeds.ac.uk., Laugel-Haushalter V; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS-UMR7104, Université de Strasbourg, Strasbourg, France., Hany U; Institute of Medical Research, St James's University Hospital, University of Leeds Faculty of Medicine and Health, Leeds, UK., Best S; Institute of Medical Research, St James's University Hospital, University of Leeds Faculty of Medicine and Health, Leeds, UK.; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Taylor RL; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, UK.; EMQN CIC, Manchester, UK., Poulter JA; Institute of Medical Research, St James's University Hospital, University of Leeds Faculty of Medicine and Health, Leeds, UK., Wortmann SB; Department of Paediatrics, University Children's Hospital, Salzburger Landesklinken (SALK) and Paracelsus Medical University, Salzburg, Austria.; Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands., Feichtinger RG; Department of Paediatrics, University Children's Hospital, Salzburger Landesklinken (SALK) and Paracelsus Medical University, Salzburg, Austria., Mayr JA; Department of Paediatrics, University Children's Hospital, Salzburger Landesklinken (SALK) and Paracelsus Medical University, Salzburg, Austria., Al Bahlani S; Dental & OMFS Clinic, Al Nahdha Hospital, Government of Oman Ministry of Health, Muscat, Oman., Nikolopoulos G; Institute for Fundamental Biomedical Research, BSRC Alexander Fleming, Vari, Greece., Rigby A; Institute of Medical Research, St James's University Hospital, University of Leeds Faculty of Medicine and Health, Leeds, UK.; School of Dentistry, University of Leeds Faculty of Medicine and Health, Leeds, UK., Black GC; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, UK., Watson CM; Institute of Medical Research, St James's University Hospital, University of Leeds Faculty of Medicine and Health, Leeds, UK.; North East and Yorkshire Genomic Laboratory Hub, Central Lab, St James's University Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Mansour S; Lymphovascular Research Unit, Molecular and Clinical Sciences Research Institute, St George's Hospital, University of London, London, UK.; SW Thames Regional Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London, UK., Inglehearn CF; Institute of Medical Research, St James's University Hospital, University of Leeds Faculty of Medicine and Health, Leeds, UK., Mighell AJ; School of Dentistry, University of Leeds Faculty of Medicine and Health, Leeds, UK., Bloch-Zupan A; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS-UMR7104, Université de Strasbourg, Strasbourg, France.; Faculté de Chirurgie Dentaire, Université de Strasbourg, Strasbourg, France.; Centre de référence des maladies rares orales et dentaires O-Rares, Filière Santé Maladies rares TETE COU, European Reference Network CRANIO, Pôle de Médecine et Chirurgie Bucco-dentaires, Hôpital Civil, Hôpitaux Universitaires de Strasbourg (HUS), Strasbourg, France.
Publikováno v: Journal of medical genetics [J Med Genet] 2024 Jun 20; Vol. 61 (7), pp. 689-698. Date of Electronic Publication: 2024 Jun 20.
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10
Akademický článek
PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects.
Autor: Atkinson R; Biosciences Institute, Newcastle University, Newcastle, UK., Georgiou M; Biosciences Institute, Newcastle University, Newcastle, UK., Yang C; Biosciences Institute, Newcastle University, Newcastle, UK., Szymanska K; Leeds Institute of Medical Research, University of Leeds, Leeds, UK., Lahat A; Department of Biosciences, Durham University, Durham, UK., Vasconcelos EJR; Leeds Omics, University of Leeds, Leeds, UK., Ji Y; Max-Planck-Institute for Multidisciplinary Sciences, Göttingen, Germany.; Institute of Clinical Chemistry, University Medical Center Göttingen, Göttingen, Germany., Moya Molina M; Biosciences Institute, Newcastle University, Newcastle, UK.; Newcells Biotech, Newcastle, UK., Collin J; Biosciences Institute, Newcastle University, Newcastle, UK., Queen R; Biosciences Institute, Newcastle University, Newcastle, UK., Dorgau B; Biosciences Institute, Newcastle University, Newcastle, UK., Watson A; Biosciences Institute, Newcastle University, Newcastle, UK.; Newcells Biotech, Newcastle, UK., Kurzawa-Akanbi M; Biosciences Institute, Newcastle University, Newcastle, UK., Laws R; Electron Microscopy Research Services, Newcastle University, Newcastle, UK., Saxena A; Biosciences Institute, Newcastle University, Newcastle, UK., Shyan Beh C; Biosciences Institute, Newcastle University, Newcastle, UK., Siachisumo C; Biosciences Institute, Newcastle University, Newcastle, UK., Goertler F; Department of Informatics, University of Bergen, Bergen, Norway., Karwatka M; Leeds Institute of Medical Research, University of Leeds, Leeds, UK., Davey T; Electron Microscopy Research Services, Newcastle University, Newcastle, UK., Inglehearn CF; Leeds Institute of Medical Research, University of Leeds, Leeds, UK., McKibbin M; Leeds Institute of Medical Research, University of Leeds, Leeds, UK., Lührmann R; Max-Planck-Institute for Multidisciplinary Sciences, Göttingen, Germany., Steel DH; Biosciences Institute, Newcastle University, Newcastle, UK., Elliott DJ; Biosciences Institute, Newcastle University, Newcastle, UK., Armstrong L; Biosciences Institute, Newcastle University, Newcastle, UK., Urlaub H; Max-Planck-Institute for Multidisciplinary Sciences, Göttingen, Germany.; Institute of Clinical Chemistry, University Medical Center Göttingen, Göttingen, Germany.; Göttingen Center for Molecular Biosciences, Georg August University of Göttingen, Göttingen, Germany., Ali RR; Centre for Cell and Gene Therapy, Kings College London, London, UK., Grellscheid SN; Department of Biosciences, Durham University, Durham, UK.; Department of Informatics, University of Bergen, Bergen, Norway., Johnson CA; Leeds Institute of Medical Research, University of Leeds, Leeds, UK. c.johnson@leeds.ac.uk., Mozaffari-Jovin S; Max-Planck-Institute for Multidisciplinary Sciences, Göttingen, Germany. sina.mozaffari-jovin@mpinat.mpg.de.; Department of Medical Genetics and Medical Genetics Research Center, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. sina.mozaffari-jovin@mpinat.mpg.de., Lako M; Biosciences Institute, Newcastle University, Newcastle, UK. majlinda.lako@ncl.ac.uk.
Publikováno v: Nature communications [Nat Commun] 2024 Apr 11; Vol. 15 (1), pp. 3138. Date of Electronic Publication: 2024 Apr 11.
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