Detalhe da pesquisa
1.
Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder.
Hum Mol Genet
; 31(12): 1970-1978, 2022 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34999892
2.
Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects.
Br J Dermatol
; 188(1): 75-83, 2023 01 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36689522
3.
Genomics-based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica.
Hum Mutat
; 41(5): 906-912, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31930626
4.
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
5.
Th2 response drives itch in dystrophic epidermolysis bullosa pruriginosa: A case-control study.
J Am Acad Dermatol
; 2024 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38484894
6.
Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa.
Hum Mutat
; 39(10): 1349-1354, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30016581
7.
Familial hypotrichosis simplex of the scalp associated with a novel heterozygous nonsense variant in CDSN.
Clin Exp Dermatol
; 48(5): 579-583, 2023 04 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36864587
8.
Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation.
Matrix Biol
; 99: 43-57, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34004352
9.
Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility.
Sci Rep
; 10(1): 21622, 2020 12 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33303784
10.
Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 "knock-out".
Matrix Biol
; 83: 48-59, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31302245
11.
Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency.
Matrix Biol
; 81: 91-106, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30463024
12.
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
13.
Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis.
J Invest Dermatol
; 140(6): 1285-1288, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31790667
14.
Semidominant GPNMB Mutations in Amyloidosis Cutis Dyschromica.
J Invest Dermatol
; 139(12): 2550-2554.e9, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31226264