المؤلفون: Martin Oti, Bjørn Ivar Haukanes, Thandiswa Ngcungcu, Stine Buechmann-Moller, Tomasz Stokowy, Wayne Grayson, Olav Sundnes, Edward J. Oakeley, Fan Yang, Ivonne M.J.J. van Vlijmen-Willems, Han G. Brunner, Michèle Ramsay, Hans van Bokhoven, Robert Bruccoleri, Jiang Zhu, Thomas Morgan, Kari Merete Ersland, Bolan Linghu, Charlotte von der Lippe, Huiqing Zhou, Torunn Fiskerstrand, Frank Staedtler, Marc Sultan, Joost Schalkwijk, Jan Cezary Sitek, Vidar M. Steen, Joseph D. Szustakowski, Peter R. Hull, Nanguneri Nirmala

المساهمون: Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA Klinische Genetica (5)

المصدر: American Journal of Human Genetics, 100, 5, pp. 737-750
American Journal of Human Genetics, 100, 737-750
American Journal of Human Genetics, 100(5), 737-750. Cell Press

مصطلحات موضوعية: 0301 basic medicine, Epigenomics, Male, Cathepsin B, DNA Glycosylases, 030207 dermatology & venereal diseases, South Africa, 0302 clinical medicine, Gene Duplication, Gene expression, Gene duplication, DNA-(Apurinic or Apyrimidinic Site) Lyase, Genetics (clinical), Genetics, Regulation of gene expression, integumentary system, Norway, ENCODING CYSTATIN-A, Autosomal dominant trait, Chromosome Mapping, Skin Diseases, Genetic, Pedigree, GENOME, Reconstructive and regenerative medicine Radboud Institute for Molecular Life Sciences [Radboudumc 10], Enhancer Elements, Genetic, MCF-7 Cells, Female, Molecular Developmental Biology, Inflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5], Chromosomes, Human, Pair 8, Genetic Markers, DNA Copy Number Variations, DNA-SEQUENCING DATA, Biology, 03 medical and health sciences, EPIDERMAL DIFFERENTIATION, medicine, Humans, Enhancer, Gene, OUDTSHOORN SKIN, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], KERATINOCYTES, Keratosis, medicine.disease, Molecular biology, GENE, 030104 developmental biology, Gene Expression Regulation, CHROMOSOME 8P22-P23, Erythema, CATHEPSIN-L, ERYTHROKERATOLYSIS-HIEMALIS, Case-Control Studies, Keratolytic winter erythema, Epidermis

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57bf77ef18db42b183624fe88fcb98cb
https://cris.maastrichtuniversity.nl/en/publications/8a2ad534-bd37-4750-a988-4d47435e21d8

المؤلفون: Maurice A.M. van Steensel, Eli Sprecher, W.H. Irwin McLean, Michel van Geel, Arti Nanda, Marcel F. Jonkman, Jaap J A J van der Velden, John A. McGrath, Ruud G. L. Nellen, Andrew Cassidy

المساهمون: Translational Immunology Groningen (TRIGR), MUMC+: MA Dermatologie (9), Dermatologie, RS: GROW - Oncology, RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy

المصدر: Experimental dermatology, 24(4), 285-289. Blackwell Publishing Ltd
Experimental Dermatology, 24(4), 285-289. Wiley

مصطلحات موضوعية: Male, Pathology, Stratum granulosum, DNA Mutational Analysis, medicine.disease_cause, Biochemistry, INDEL Mutation, Missense mutation, Child, Cells, Cultured, Netherlands, Mutation, integumentary system, ENCODING CYSTATIN-A, Recombinant Proteins, FAMILY, Europe, medicine.anatomical_structure, Kuwait, Child, Preschool, Female, TGM5, medicine.medical_specialty, In silico, Molecular Sequence Data, Mutation, Missense, Dermatology, Biology, Transfection, Skin Diseases, MISSENSE MUTATION, Stratum corneum, medicine, CSTA, Humans, Amino Acid Sequence, Molecular Biology, Gene, Transglutaminases, acral peeling skin syndrome, Sequence Homology, Amino Acid, Alternative splicing, Infant, GENE, Alternative Splicing, HEK293 Cells, Amino Acid Substitution, Mutant Proteins

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd3447d61d2685c49f21000159332986
https://doi.org/10.1111/exd.12650

المصدر: Journal of the American Academy of Dermatology. 70(6):1103-1126

مصطلحات موضوعية: electron microscopy, diagnosis, ENCODING CYSTATIN-A, PEELING SKIN SYNDROME, GENE, DISEASE, KIDNEY, classification, OF-THE-LITERATURE, SIMPLEX, genetics, HETEROGENEITY, epidermolysis bullosa, monoclonal antibodies, HOMOZYGOUS NONSENSE MUTATION, gene, FRAGILITY

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dris___01423::91da93cec3264864674d55bda3d1015d
https://research.rug.nl/en/publications/67cc6978-fe7f-4fef-bbde-2111dd3d7d69

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