Detalhe da pesquisa
1.
Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility.
Am J Hum Genet
; 91(6): 1115-21, 2012 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23176819
2.
The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen.
J Med Genet
; 48(3): 160-7, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21113014
3.
Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.
Acta Derm Venereol
; 91(3): 262-6, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21448560
4.
Categorizing immunoflourescence mapping in epidermolysis bullosa with pyloric atresia: Use as a broad prognostic indicator.
Australas J Dermatol
; 51(3): 212-4, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20695865
5.
Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities.
J Invest Dermatol
; 126(9): 2039-43, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16710310
6.
LEKTI is localized in lamellar granules, separated from KLK5 and KLK7, and is secreted in the extracellular spaces of the superficial stratum granulosum.
J Invest Dermatol
; 124(2): 360-6, 2005 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-15675955
7.
Keratin 9 is required for the structural integrity and terminal differentiation of the palmoplantar epidermis.
J Invest Dermatol
; 134(3): 754-763, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23962810
8.
Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.
Nat Genet
; 44(11): 1272-6, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23064416
9.
Single nucleotide polymorphism in a commonly utilized LAMB3 primer sequence: implications for mutation detection and haplotype analysis in junctional epidermolysis bullosa.
J Dermatol Sci
; 44(1): 48-51, 2006 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16814527
10.
Transmission electron microscopy for the diagnosis of epidermolysis bullosa.
Dermatol Clin
; 28(2): 211-22, vii, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20447483
11.
Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin.
Neuromuscul Disord
; 20(11): 709-11, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20624679
12.
A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.
J Invest Dermatol
; 130(6): 1551-7, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20164846
13.
Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children.
J Invest Dermatol
; 130(6): 1543-50, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20130592
14.
The missense mutation p.R1303Q in type XVII collagen underlies junctional epidermolysis bullosa resembling Kindler syndrome.
J Invest Dermatol
; 134(3): 845-849, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24005051
15.
Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa.
J Invest Dermatol
; 128(9): 2179-89, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18385758
16.
Autosomal recessive epidermolysis bullosa simplex due to loss of BPAG1-e expression.
J Invest Dermatol
; 132(3 Pt 1): 742-4, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22113475
17.
Revertant mosaicism in recessive dystrophic epidermolysis bullosa.
J Invest Dermatol
; 130(7): 1937-40, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20357813
18.
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.
Am J Hum Genet
; 76(5): 794-803, 2005 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15756637
19.
Desmosomes exhibit site-specific features in human palm skin.
Exp Dermatol
; 12(4): 378-88, 2003 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-12930293
20.
Lack of plakophilin 1 increases keratinocyte migration and reduces desmosome stability.
J Cell Sci
; 116(Pt 16): 3303-14, 2003 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-12840072