Detalhe da pesquisa
1.
RIPK4 regulates cell-cell adhesion in epidermal development and homeostasis.
Hum Mol Genet
; 31(15): 2535-2547, 2022 08 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35220430
2.
Systematic Review and Meta-Analysis of Dietary Interventions and Microbiome in Phenylketonuria.
Int J Mol Sci
; 24(24)2023 Dec 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38139256
3.
Measles skin rash: Infection of lymphoid and myeloid cells in the dermis precedes viral dissemination to the epidermis.
PLoS Pathog
; 16(10): e1008253, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33031460
4.
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.
Brain
; 144(10): 3020-3035, 2021 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33964137
5.
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.
Hum Genet
; 140(7): 1061-1076, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811546
6.
Microprocessor-dependent processing of splice site overlapping microRNA exons does not result in changes in alternative splicing.
RNA
; 24(9): 1158-1171, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29895677
7.
Multiple Skin Squamous Cell Carcinomas in Junctional Epidermolysis Bullosa Due to Altered Laminin-332 Function.
Int J Mol Sci
; 21(4)2020 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-32093196
8.
Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI.
Hum Mutat
; 40(1): 106-114, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30371979
9.
Epidermolysis Bullosa (EB) Acquisita in an Adult Patient with Previously Unrecognized Mild Dystrophic EB and Biallelic COL7A1 Mutations.
Acta Derm Venereol
; 98(4): 411-415, 2018 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-29182795
10.
TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin.
Proc Natl Acad Sci U S A
; 112(5): 1499-504, 2015 Feb 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-25605938
11.
Structural Defects of Laminin ß3 N-terminus Underlie Junctional Epidermolysis Bullosa with Altered Granulation Tissue Response.
Acta Derm Venereol
; 96(7): 954-958, 2016 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27120332
12.
Exon-Specific U1s Correct SPINK5 Exon 11 Skipping Caused by a Synonymous Substitution that Affects a Bifunctional Splicing Regulatory Element.
Hum Mutat
; 36(5): 504-12, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25665175
13.
p63-dependent and independent mechanisms of nectin-1 and nectin-4 regulation in the epidermis.
Exp Dermatol
; 24(2): 114-9, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25387952
14.
Reference genes for gene expression analysis in proliferating and differentiating human keratinocytes.
Exp Dermatol
; 24(4): 314-6, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25651864
15.
Ichthyosis Linearis Circumflexa as the Only Clinical Manifestation of Netherton Syndrome.
Acta Derm Venereol
; 95(6): 720-4, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25710899
16.
The 420K LEKTI variant alters LEKTI proteolytic activation and results in protease deregulation: implications for atopic dermatitis.
Hum Mol Genet
; 21(19): 4187-200, 2012 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22730493
17.
Early immunopathological diagnosis of ichthyosis with confetti in two sporadic cases with new mutations in keratin 10.
Acta Derm Venereol
; 94(5): 579-82, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24626314
18.
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.
Am J Hum Genet
; 87(2): 265-73, 2010 Aug 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-20691405
19.
Rational design of shepherdin, a novel anticancer agent.
Cancer Cell
; 7(5): 457-68, 2005 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15894266
20.
Lethal Netherton syndrome due to homozygous p.Arg371X mutation in SPINK5.
Pediatr Dermatol
; 30(4): e65-7, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23331056