Detalhe da pesquisa
1.
Gene-environment interaction in the onset of eczema in infancy: filaggrin loss-of-function mutations enhanced by neonatal cat exposure.
PLoS Med
; 5(6): e131, 2008 Jun 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-18578563
2.
Lysosomal protease deficiency or substrate overload induces an oxidative-stress mediated STAT3-dependent pathway of lysosomal homeostasis.
Nat Commun
; 9(1): 5343, 2018 12 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-30559339
3.
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.
Orphanet J Rare Dis
; 10: 135, 2015 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26471370
4.
Report of the 10th Annual International Pachyonychia Congenita Consortium Meeting.
J Invest Dermatol
; 134(3): 588-591, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24518109
5.
Loss-of-function mutations in the filaggrin gene lead to reduced level of natural moisturizing factor in the stratum corneum.
J Invest Dermatol
; 128(8): 2117-9, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18305568