about
Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa.Mechanisms of fibroblast cell therapy for dystrophic epidermolysis bullosa: high stability of collagen VII favors long-term skin integrityRat model for dominant dystrophic epidermolysis bullosa: glycine substitution reduces collagen VII stability and shows gene-dosage effectGlobal remodelling of cellular microenvironment due to loss of collagen VII.Acromelanosis albo-punctata: a distinct inherited dermatosis with acral spotty dyspigmentation without systemic involvement.Collagen VII plays a dual role in wound healing.C-terminally truncated kindlin-1 leads to abnormal adhesion and migration of keratinocytes.Iatrogenic vitamin D deficiency in a patient with Gorlin syndrome: the conundrum of photoprotection.Collagen XVII.Recalcitrant pemphigus vulgaris responding to systemic tacrolimus.A band-like balding disorder.Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa.Diagnostics of autoimmune bullous diseases in German dermatology departments.Cell- and protein-based therapy approaches for epidermolysis bullosa.Chronic colitis due to an epithelial barrier defect: the role of kindlin-1 isoforms.Overlap of IgA pemphigus and linear IgA dermatosis in a patient with ulcerative colitis: a mere coincidence?Disruption of ERBB2IP is not associated with dystrophic epidermolysis bullosa in both father and son carrying a balanced 5;13 translocation.[Hereditary blistering disorders]Bullous pemphigoid autoantibodies preferentially recognize phosphoepitopes in collagen XVIITGM5 mutations impact epidermal differentiation in acral peeling skin syndromeForty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort[Neutrophilic dermatosis of the hands associated with CLL]A familial case of tricho-rhino-phalangeal syndrome type III with a novel missense mutation in exon 6 of the TRPS1 geneOverexpression of the Flii gene increases dermal-epidermal blistering in an autoimmune ColVII mouse model of epidermolysis bullosa acquisitaEsophageal lichen planus: towards diagnosis of an underdiagnosed diseaseA new clinical variant of acquired reactive perforating dermatosis-like bullous pemphigoid
P50
Q30352999-959F7DAF-51FC-4F26-9D1C-BD4FA9AB9418Q33713926-1057BD1F-FBD8-4FF7-81E1-133F5CE7EDBAQ34745503-AB402E9A-9EA1-4C54-BCD7-D244DC8F5AB0Q36856682-7171B2DC-5CA7-47FE-9E80-B7149441BE09Q38020689-27D61A83-481E-4E84-B299-44992C29C19FQ41843053-D11E6743-650C-43C1-8B69-64D7A6B9152BQ42439337-45C12FEB-BCAC-426F-B08B-B139A1E94960Q42448221-47861A97-954D-4DE5-A0E2-505ECAABEE01Q42463665-E373CEE7-6895-4541-9FC8-99D54828AA57Q43001480-72576662-2CCC-4C71-B187-3AF6054EB53BQ44455357-8C9C9130-96CF-4E63-8AB9-8FABF5723B9DQ44901578-54AE0EA5-6663-45AA-BB57-A0ADE0C75E39Q45736772-FBDA33F2-C060-4E75-9B90-136448038F02Q45874769-56C1DA72-8071-497B-842C-7A64786A41A9Q46936206-4ED01832-F531-4F3E-8FE4-DE952310E054Q50860458-8102553B-A002-4867-B976-F023161ED312Q52566357-06CE0346-6F48-4CDB-991D-1DC4878B4D1DQ80514072-89C289CE-5748-44BD-9433-48C18663E041Q81441435-736ABB4F-9906-4531-A34D-DDE2F37CA535Q84203559-DFB7CFB4-6948-4777-B88C-6F1A271D30D9Q84405550-9673BAE7-6858-4BBB-896C-284AA97C4F32Q84551215-B29C3947-D2BD-4621-9BC4-28D48BA6A7F9Q84565508-75C68100-7A27-4582-97CC-FE8DFE2BA1C3Q85066569-9B997106-4BAC-4274-9113-E2AA54A404EEQ90685610-5295594F-C412-4BDB-A031-A829ABEB911FQ91315153-8E316745-A07C-4E2C-B82D-67F31FEC19FF
P50
description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
ricercatore
@it
taighdeoir
@ga
հետազոտող
@hy
name
Johannes S Kern
@ast
Johannes S Kern
@en
Johannes S Kern
@es
Johannes S Kern
@sl
جوهانس إس كيرن
@ar
type
label
Johannes S Kern
@ast
Johannes S Kern
@en
Johannes S Kern
@es
Johannes S Kern
@sl
جوهانس إس كيرن
@ar
prefLabel
Johannes S Kern
@ast
Johannes S Kern
@en
Johannes S Kern
@es
Johannes S Kern
@sl
جوهانس إس كيرن
@ar
P214
P227
P106
P19
P1960
V9ga_coAAAAJ
P21
P213
0000 0000 3013 3323
P214
P227
P31
P496
0000-0001-6372-8048
P569
1979-01-01T00:00:00Z
P734
P735
P7859
viaf-6088654