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.

Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20

Autor: Nikolopoulos, G, Smith, CEL, Poulter, JA, Murillo, G, Silva, S, Brown, CJ, Day, PF, Soldani, F, Al-Bahlani, S, Harris, SA, O’Connell, MJ, Inglehearn, CF, Mighell, AJ

Amelogenesis imperfecta (AI) describes a heterogeneous group of developmental enamel defects that typically have Mendelian inheritance. Exome sequencing of 10 families with recessive hypomaturation AI revealed four novel and one known variants in the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::92905457a6fb8dca6a8f5319c44660f5

Addition of Gallic Acid Overcomes Resistance to Cisplatin in Ovarian Cancer Cell Lines.

Autor: Al Balushi N; Department of Medicine, College of Medicine & Health Sciences, Sultan Qaboos University, P. O. Box 35, PC 123, AlKhoud, Muscat, Oman., Hassan SI; Department of Chemistry, College of Science, Sultan Qaboos University, P. O. Box 36, PC 123, AlKhoud, Muscat, Oman., Abdullah N; Department of Medicine, College of Medicine & Health Sciences, Sultan Qaboos University, P. O. Box 35, PC 123, AlKhoud, Muscat, Oman., Al Dhahli B; Department of Allied Health Sciences, College of Medicine & Health Sciences, Sultan Qaboos University, P. O. Box 35, PC 123, AlKhoud, Muscat, Oman., Al Bahlani S; Department of Allied Health Sciences, College of Medicine & Health Sciences, Sultan Qaboos University, P. O. Box 35, PC 123, AlKhoud, Muscat, Oman., Ahmed I; Department of Pharmacology and Clinical Pharmacy, College of Medicine & Health Sciences, Sultan Qaboos University, P. O. Box 35, PC 123, AlKhoud, Muscat, Oman., Tsang BK; Departments of Obstetrics & Gynecology, Cellular & Molecular Medicine and the Interdisciplinary School of Health Sciences, and the Centre for Infection, Immunity and Inflammation, University of Ottawa; Chronic Disease Program, Ottawa Hospital Research Institute, Ottawa, ON K1N 6N5, Canada., Dobretsov S; Department of Marine Science & Fisheries, College of Agricultural & Marine Sciences, Sultan Qaboos University, P. O. Box 34, PC 123, AlKhoud, Muscat, Oman.; Centre of Excellence in Marine Biotechnology, Sultan Qaboos University, P. O. Box 34, PC 123, AlKhoud, Muscat, Oman., Tamimi Y; Department of Biochemistry, College of Medicine & Health Sciences, Sultan Qaboos University, P. O. Box 35, PC 123, AlKhoud, Muscat, Oman., Burney IA; Department of Medicine, College of Medicine & Health Sciences, Sultan Qaboos University, P. O. Box 35, PC 123, AlKhoud, Muscat, Oman.; Panjwani Center for Molecular Medicine and Drug Research, International Center for chemical and Biological Sciences, Karachi, University, Karachi, Pakistan.

Publikováno v: Asian Pacific journal of cancer prevention : APJCP [Asian Pac J Cancer Prev] 2022 Aug 01; Vol. 23 (8), pp. 2661-2669. Date of Electronic Publication: 2022 Aug 01.

Hymenialdisine is Cytotoxic Against Cisplatin-Sensitive but Not Against Cisplatin-Resistant Cell Lines.

Autor: Abdullah N; Departments of Biochemistry., Al Balushi N; Departments of Biochemistry., Hasan SI; Department of Chemistry, College of Science, Sultan Qaboos University., Al Bahlani S; Allied Health Sciences., Dobretsov S; Center of Excellence in Marine Biotechnology, Sultan Qaboos University, Muscat, Oman., Tamimi Y; Departments of Biochemistry., Burney IA; Medicine, College of Medicine and Health Sciences.

Publikováno v: Sultan Qaboos University medical journal [Sultan Qaboos Univ Med J] 2021 Nov; Vol. 21 (4), pp. 632-634. Date of Electronic Publication: 2021 Nov 25.

Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20.

Autor: Nikolopoulos G; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK.; Department of Oral Biology, School of Dentistry, St James's University Hospital, University of Leeds, Leeds, UK., Smith CEL; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK., Poulter JA; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK., Murillo G; School of Dentistry, Universidad de Costa Rica, Ciudad Universitaria Rodrigo Facio, San Pedro Montes De Oca, Costa Rica., Silva S; Cellular and Molecular Biology Centre (CBCM), Universidad de Costa Rica, Ciudad Universitaria Rodrigo Facio, San Pedro Montes De Oca, Costa Rica., Lamb T; Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Berry IR; Leeds Genetics Laboratory, St James's University Hospital, Leeds, UK., Brown CJ; Birmingham Dental Hospital, Birmingham, UK., Day PF; Department of Paediatric Dentistry, Leeds Dental Institute, University of Leeds, Leeds, UK.; Community Dental Service, Horton Park Health Centre, Bradford District Care NHS Foundation Trust, Bradford, UK., Soldani F; Community Dental Service, Horton Park Health Centre, Bradford District Care NHS Foundation Trust, Bradford, UK., Al-Bahlani S; Dental & O.M.F.S Clinic, Al Nahdha Hospital, Ministry of Health, Muscat, Oman., Harris SA; School of Physics, University of Leeds, Leeds, UK.; Astbury Centre for Structural Molecular Biology, University of Leeds, Leeds, UK., O'Connell MJ; School of Biology, Faculty of Biological Sciences, University of Leeds, Leeds, UK.; School of Life Sciences, Faculty of Medicine and Health Sciences, University of Nottingham, Nottingham, UK., Inglehearn CF; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK., Mighell AJ; Department of Oral Biology, School of Dentistry, St James's University Hospital, University of Leeds, Leeds, UK.

Publikováno v: Human mutation [Hum Mutat] 2021 May; Vol. 42 (5), pp. 567-576. Date of Electronic Publication: 2021 Mar 06.