Novel insights into the epidemiology of epidermolysis bullosa (EB) from the Dutch EB Registry: EB more common than previously assumed?

Autor: M. F. Jonkman, P. C. van den Akker, V. K. Yenamandra, Anna M.G. Pasmooij, Marieke C. Bolling, R. Baardman, José C. Duipmans

Publikováno v: Journal of the European Academy of Dermatology and Venereology
Journal of the European Academy of Dermatology and Venereology, 1-12. Wiley
STARTPAGE=1;ENDPAGE=12;ISSN=0926-9959;TITLE=Journal of the European Academy of Dermatology and Venereology

Background Epidermolysis bullosa (EB) is a heterogeneous group of rare and incurable genetic disorders characterized by fragility of the skin and mucosae, resulting in blisters and erosions. Several epidemiological studies in other populations have b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2acfc78f40bb05d79d0d079ccf990948
https://doi.org/10.1111/jdv.17012

Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24

Autor: Richard J. Sinke, Gilles F. H. Diercks, Maria C. Bolling, M.P. van den Berg, Sabrina Z. Jan, Anna M.G. Pasmooij, P. C. van den Akker, M. F. Jonkman, V. K. Yenamandra, Mathilde C.S.C. Vermeer, Henny H. Lemmink, P van der Meer

Publikováno v: The British journal of dermatology, 179(5), 1181-1183. Wiley

Dominant mutations in the KLHL24 gene, encoding for kelch-like protein 24, have been implicated in the pathogenesis of epidermolysis bullosa simplex (EBS). So far, 26 patients from different ethnicities have been reported and all of them harboured a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5030f9088d52efe291080d45035ef5f2
https://research.rug.nl/en/publications/8d647304-0ee0-4e06-bc8b-d0c5cba9026a

414 Uncovering the cause of early lethality in generalized severe junctional epidermolysis bullosa

Autor: S. Gordijn, R. Dikkers, M. F. Jonkman, J. Prins, A. Lambeck, Marieke C. Bolling, V. Yenamandra

Publikováno v: Journal of Investigative Dermatology. 139:S71

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::02371efc203dfc714bad7b4a1cfa9a50
https://doi.org/10.1016/j.jid.2019.03.490

Pigmentation and melanocyte supply to the epidermis depend on type XVII collagen

Autor: Antoni Gostyński, Gilles F. H. Diercks, Anna M.G. Pasmooij, Hendrikus Pas, M. F. Jonkman, Marcela Del Rio

Publikováno v: Experimental Dermatology. 23:130-132

Genetic deficiency of type XVII collagen (C17), laminin-332 or type VII collagen causes epidermolysis bullosa (EB). Spontaneous correction of the deficiency, also known as revertant mosaicism, is caused by a second somatic mutation that restores prot

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::191577d30759c03f500ac31152c5d662
https://doi.org/10.1111/exd.12304

Localized and generalized forms of blistering in junctional epidermolysis bullosa due to COL17A1 mutations in the Netherlands

Autor: Hendri H. Pas, G. H. L. Jansen, Anna M.G. Pasmooij, Henny H. Lemmink, M. F. Jonkman

Publikováno v: BRITISH JOURNAL OF DERMATOLOGY, 156(5), 861-870. Wiley

Background Mutations in the gene COL17A1 coding for type XVII collagen cause non-Herlitz junctional epidermolysis bullosa (nH-JEB).Objectives Here we give an overview of the genotype-phenotype correlation in 12 patients from the Netherlands with type

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7fef67f3a180340b8612aed0bfa2565
https://hdl.handle.net/11370/c0a7ee7d-77d1-4488-8646-aa06705a3882