Detalhe da pesquisa
1.
Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.
Am J Hum Genet
; 100(2): 364-370, 2017 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28157540
2.
Phase I/II open-label trial of intravenous allogeneic mesenchymal stromal cell therapy in adults with recessive dystrophic epidermolysis bullosa.
J Am Acad Dermatol
; 83(2): 447-454, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31786163
3.
Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome.
Am J Hum Genet
; 95(3): 308-14, 2014 Sep 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25152456
4.
The cytolinker plectin regulates nuclear mechanotransduction in keratinocytes.
J Cell Sci
; 128(24): 4475-86, 2015 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26527396
5.
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
6.
Humanization of autoantigen.
Nat Med
; 13(3): 378-83, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17322897
7.
Diffuse melanosis cutis: a systematic review of the literature.
J Am Acad Dermatol
; 68(3): 482-8, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23219556
8.
Bone marrow transplantation restores epidermal basement membrane protein expression and rescues epidermolysis bullosa model mice.
Proc Natl Acad Sci U S A
; 107(32): 14345-50, 2010 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-20660747
9.
Blockade of autoantibody-initiated tissue damage by using recombinant fab antibody fragments against pathogenic autoantigen.
Am J Pathol
; 176(2): 914-25, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20042683
10.
Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex.
Hum Mutat
; 31(3): 308-16, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20052759
11.
Cyanoacrylate glue as an alternative mounting medium for resin-embedded semithin sections.
J Electron Microsc (Tokyo)
; 59(1): 87-90, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-19666907
12.
CGI-58 is an alpha/beta-hydrolase within lipid transporting lamellar granules of differentiated keratinocytes.
Am J Pathol
; 173(5): 1349-60, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18832586
13.
Safety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa.
JCI Insight
; 4(11)2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31167965
14.
Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer.
J Clin Invest
; 115(7): 1777-84, 2005 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16007253
15.
Gelsolin segment 5 inhibits HIV-induced T-cell apoptosis via Vpr-binding to VDAC.
FEBS Lett
; 581(3): 535-40, 2007 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-17254575
16.
Small-diameter porous poly (epsilon-caprolactone) films enhance adhesion and growth of human cultured epidermal keratinocyte and dermal fibroblast cells.
Tissue Eng
; 13(4): 789-98, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17228993
17.
N-linked neutral oligosaccharides in the stratum corneum of normal and ichthyotic skin.
Arch Dermatol Res
; 298(8): 403-7, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17021764
18.
Compound heterozygous ABCA12 mutations including a novel nonsense mutation underlie harlequin ichthyosis.
Dermatology
; 215(2): 155-9, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17684380
19.
Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity.
J Invest Dermatol
; 126(7): 1518-23, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16675967
20.
Colocalization of multiple laminin isoforms predominantly beneath hemidesmosomes in the upper lamina densa of the epidermal basement membrane.
J Histochem Cytochem
; 54(1): 109-18, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16174790