المؤلفون: Bageta ML; Dermatology Department, Great Ormond Street Hospital NHS Foundation Trust, London, UK., Yerlett N; Dietetics Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Rybak A; Gastroenterology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Nita A; Gastroenterology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Balboa PL; Dermatology Department, Great Ormond Street Hospital NHS Foundation Trust, London, UK., Petrof G; Dermatology Department, Great Ormond Street Hospital NHS Foundation Trust, London, UK., Martinez AE; Dermatology Department, Great Ormond Street Hospital NHS Foundation Trust, London, UK.

المصدر: Clinical and experimental dermatology [Clin Exp Dermatol] 2024 May 23. Date of Electronic Publication: 2024 May 23.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 7606847 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2230 (Electronic) Linking ISSN: 03076938 NLM ISO Abbreviation: Clin Exp Dermatol Subsets: MEDLINE

المؤلفون: Lau CH; Epithelial Cell Biology in ENT Research (EpiCENTR) Group, UCL Great Ormond Street Institute of Child Health, University College London, 20c Guilford Street, London WC1N 1DZ, UK., Rouhani MJ; Lungs for Living Research Centre, UCL Respiratory, Division of Medicine, University College London, 5 University Street, London WC1E 6JF, UK; Ear, Nose, and Throat Department, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK., Maughan EF; Epithelial Cell Biology in ENT Research (EpiCENTR) Group, UCL Great Ormond Street Institute of Child Health, University College London, 20c Guilford Street, London WC1N 1DZ, UK; Ear, Nose, and Throat Department, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK., Orr JC; Epithelial Cell Biology in ENT Research (EpiCENTR) Group, UCL Great Ormond Street Institute of Child Health, University College London, 20c Guilford Street, London WC1N 1DZ, UK; Lungs for Living Research Centre, UCL Respiratory, Division of Medicine, University College London, 5 University Street, London WC1E 6JF, UK., Kolluri KK; Lungs for Living Research Centre, UCL Respiratory, Division of Medicine, University College London, 5 University Street, London WC1E 6JF, UK., Pearce DR; UCL Cancer Institute, University College London, 72 Huntley Street, London WC1E 6DD, UK., Haughey EK; Infection, Immunity, and Inflammation Department, UCL Great Ormond Street Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK., Sutton L; Ear, Nose, and Throat Department, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK., Flatau S; Ear, Nose, and Throat Department, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK., Balboa PL; Department of Dermatology, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK., Bageta ML; Department of Dermatology, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK., O'Callaghan C; Infection, Immunity, and Inflammation Department, UCL Great Ormond Street Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK., Smith CM; Infection, Immunity, and Inflammation Department, UCL Great Ormond Street Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK., Janes SM; Lungs for Living Research Centre, UCL Respiratory, Division of Medicine, University College London, 5 University Street, London WC1E 6JF, UK., Hewitt R; Ear, Nose, and Throat Department, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK., Petrof G; Department of Dermatology, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK., Martinez AE; Department of Dermatology, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK., McGrath JA; St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, Guy's Hospital, St Thomas Street, London SE1 9RT, UK., Butler CR; Epithelial Cell Biology in ENT Research (EpiCENTR) Group, UCL Great Ormond Street Institute of Child Health, University College London, 20c Guilford Street, London WC1N 1DZ, UK; Ear, Nose, and Throat Department, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK. Electronic address: colin.butler@ucl.ac.uk., Hynds RE; Epithelial Cell Biology in ENT Research (EpiCENTR) Group, UCL Great Ormond Street Institute of Child Health, University College London, 20c Guilford Street, London WC1N 1DZ, UK; UCL Cancer Institute, University College London, 72 Huntley Street, London WC1E 6DD, UK. Electronic address: rob.hynds@ucl.ac.uk.

المصدر: Molecular therapy : the journal of the American Society of Gene Therapy [Mol Ther] 2024 May 01; Vol. 32 (5), pp. 1497-1509. Date of Electronic Publication: 2024 Feb 29.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 100890581 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-0024 (Electronic) Linking ISSN: 15250016 NLM ISO Abbreviation: Mol Ther Subsets: MEDLINE

مواضيع طبية MeSH: Laminin*/metabolism , Laminin*/genetics , Cell Adhesion* , Epidermolysis Bullosa*/genetics , Epidermolysis Bullosa*/metabolism , Epidermolysis Bullosa*/therapy , Epidermolysis Bullosa*/pathology , Lentivirus*/genetics, Humans ; Child ; Male ; Female ; Child, Preschool ; Genetic Therapy/methods ; Genetic Vectors/genetics ; Epithelial Cells/metabolism ; Cells, Cultured ; Gene Expression ; Adolescent ; Infant

المؤلفون: Bageta ML; Dermatology Department, Great Ormond Street Hospital NHS Foundation Trust, London, UK., Yerlett N; Dietetics Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Rybak A; Gastroenterology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Balboa PL; Dermatology Department, Great Ormond Street Hospital NHS Foundation Trust, London, UK., Petrof G; Dermatology Department, Great Ormond Street Hospital NHS Foundation Trust, London, UK., Martinez AE; Dermatology Department, Great Ormond Street Hospital NHS Foundation Trust, London, UK.

المصدر: Pediatric dermatology [Pediatr Dermatol] 2023 Nov-Dec; Vol. 40 (6), pp. 1010-1014. Date of Electronic Publication: 2023 Jul 26.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 8406799 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-1470 (Electronic) Linking ISSN: 07368046 NLM ISO Abbreviation: Pediatr Dermatol Subsets: MEDLINE

مواضيع طبية MeSH: Epidermolysis Bullosa Dystrophica*/complications , Epidermolysis Bullosa Dystrophica*/therapy , Epidermolysis Bullosa Dystrophica*/genetics , Deglutition Disorders*/etiology , Deglutition Disorders*/therapy, Humans ; Child ; Child, Preschool ; Retrospective Studies ; Phenotype ; Collagen Type VII/genetics ; Mutation

المؤلفون: Jackson A; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Moss C; Department of Dermatology, Birmingham Children's Hospital, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Chandler KE; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Balboa PL; Department of Dermatology, Great Ormond Street Hospital NHS Foundation Trust, London, UK., Bageta ML; Department of Dermatology, Great Ormond Street Hospital NHS Foundation Trust, London, UK., Petrof G; Department of Dermatology, Great Ormond Street Hospital NHS Foundation Trust, London, UK., Martinez AE; Department of Dermatology, Great Ormond Street Hospital NHS Foundation Trust, London, UK., Liu L; Viapath, National Diagnostic Epidermolysis Bullosa Laboratory, Guy's Hospital, London, UK., Guy A; Viapath, National Diagnostic Epidermolysis Bullosa Laboratory, Guy's Hospital, London, UK., Mellerio JE; St John's Institute of Dermatology, King's College London (Guy's Campus), London, UK., Lee JYW; St John's Institute of Dermatology, King's College London (Guy's Campus), London, UK., Ogboli M; Department of Dermatology, Birmingham Children's Hospital, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Ryan G; West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., McGrath JA; St John's Institute of Dermatology, King's College London (Guy's Campus), London, UK., Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.

مؤلفون مشاركون: Genomics England Research Consortium

المصدر: The British journal of dermatology [Br J Dermatol] 2023 Jan 23; Vol. 188 (1), pp. 75-83.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0004041 Publication Model: Print Cited Medium: Internet ISSN: 1365-2133 (Electronic) Linking ISSN: 00070963 NLM ISO Abbreviation: Br J Dermatol Subsets: MEDLINE

مواضيع طبية MeSH: Hair Diseases*/genetics , Skin Abnormalities*, Humans ; Mice ; Animals ; Skin ; Keratinocytes/metabolism ; Hair

المؤلفون: Bageta ML; Department of Dermatology, Great Ormond Street Hospital NHS Foundation Trust, London, UK., Cella E; Department of Dermatology, Hospital Nacional de Pediatria Prof. Dr Juan P. Garrahan', Buenos Aires, Argentina., Cervini AB; Department of Dermatology, Hospital Nacional de Pediatria Prof. Dr Juan P. Garrahan', Buenos Aires, Argentina., Centeno MDV; Histopathology, Hospital Nacional de Pediatria 'Prof. Dr. Juan P. Garrahan' Buenos Aires, Buenos Aires, Argentina., Roquel L; Department of Biochemistry, Clinical Analysis Laboratory Roquel, Buenos Aires, Argentina., Mee JB; Immunodermatology Laboratory, Viapath Analytics LLP, St Thomas' Hospital, London, UK., Groves RW; St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust, London, UK., Calonje E; Department of Dermatopathology, St John's Institute of Dermatology, King's College London, London, UK., Goodwin RG; Department of Dermatology, St Woolos Hospital, Newport, UK., Mellerio JE; St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust, London, UK., Petrof G; Department of Dermatology, Great Ormond Street Hospital NHS Foundation Trust, London, UK., Martinez AE; Department of Dermatology, Great Ormond Street Hospital NHS Foundation Trust, London, UK.

المصدر: Clinical and experimental dermatology [Clin Exp Dermatol] 2022 Jul; Vol. 47 (7), pp. 1346-1349. Date of Electronic Publication: 2022 Mar 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 7606847 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2230 (Electronic) Linking ISSN: 03076938 NLM ISO Abbreviation: Clin Exp Dermatol Subsets: MEDLINE

مواضيع طبية MeSH: Epidermolysis Bullosa* , Epidermolysis Bullosa Acquisita*/diagnosis , Epidermolysis Bullosa Acquisita*/drug therapy, Child ; Humans