Detalhe da pesquisa
1.
Cleavage of the pseudoprotease iRhom2 by the signal peptidase complex reveals an ER-to-nucleus signaling pathway.
Mol Cell
; 84(2): 277-292.e9, 2024 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38183983
2.
Dermatology Quality of Life Index scores in Bangladeshi patients with atopic eczema and their families in East London.
Br J Dermatol
; 188(4): 524-532, 2023 03 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36745558
3.
Deep palmar phenotyping in atopic eczema: patterns associated with filaggrin variants, disease severity and barrier function in a South Asian population.
Br J Dermatol
; 188(6): 785-792, 2023 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36840480
4.
Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions.
Am J Hum Genet
; 99(2): 430-6, 2016 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27476651
5.
DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.
Am J Hum Genet
; 99(1): 115-24, 2016 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27346687
6.
Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.
Am J Hum Genet
; 96(3): 440-7, 2015 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25683118
7.
iASPP, a previously unidentified regulator of desmosomes, prevents arrhythmogenic right ventricular cardiomyopathy (ARVC)-induced sudden death.
Proc Natl Acad Sci U S A
; 112(9): E973-81, 2015 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-25691752
8.
Genomic Landscape of Esophageal Squamous Cell Carcinoma in a Japanese Population.
Gastroenterology
; 150(5): 1171-1182, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26873401
9.
iRHOM2-dependent regulation of ADAM17 in cutaneous disease and epidermal barrier function.
Hum Mol Genet
; 23(15): 4064-76, 2014 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24643277
10.
Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.
Am J Hum Genet
; 93(2): 330-5, 2013 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-23830519
11.
Defective channels lead to an impaired skin barrier.
J Cell Sci
; 127(Pt 20): 4343-50, 2014 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25179597
12.
RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome.
Am J Hum Genet
; 90(2): 340-6, 2012 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22265016
13.
The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia.
Nat Genet
; 38(11): 1245-7, 2006 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17041604
14.
Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2-α.
Gut
; 63(1): 96-104, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23268370
15.
Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion.
Am J Hum Genet
; 89(4): 564-71, 2011 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-21944047
16.
The DSPII splice variant is crucial for desmosome-mediated adhesion in HaCaT keratinocytes.
J Cell Sci
; 125(Pt 12): 2853-61, 2012 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22454510
17.
Inflammatory skin and bowel disease linked to ADAM17 deletion.
N Engl J Med
; 365(16): 1502-8, 2011 Oct 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-22010916
18.
Pachyonychia Congenita: A Research Agenda Leading to New Therapeutic Approaches.
J Invest Dermatol
; 144(4): 748-754, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38099888
19.
Connexins in epidermal homeostasis and skin disease.
Biochim Biophys Acta
; 1818(8): 1952-61, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21933662
20.
Connexin 26 facilitates gastrointestinal bacterial infection in vitro.
Cell Tissue Res
; 351(1): 107-16, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23138568