Detalhe da pesquisa
1.
Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy.
Cell;
184(14): 3812-3828.e30, 2021 07 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34214472
2.
ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.
PLoS Genet;
18(4): e1010192, 2022 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35482848
3.
Inorganic Pyrophosphate Deficiency Syndromes and Potential Treatments for Pathologic Tissue Calcification.
Am J Pathol;
192(5): 762-770, 2022 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35182493
4.
Interpretation of genomic sequence variants in heritable skin diseases: A primer for clinicians.
J Am Acad Dermatol;
89(3): 569-576, 2023 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34118299
5.
Inherited ichthyosis as a paradigm of rare skin disorders: Genomic medicine, pathogenesis, and management.
J Am Acad Dermatol;
89(6): 1215-1226, 2023 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35963288
6.
Acquired ichthyosis, asteatotic dermatitis or xerosis? An update on pathoetiology and drug-induced associations.
J Eur Acad Dermatol Venereol;
37(1): 47-56, 2023 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36165597
7.
Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma.
Hum Mutat;
43(9): 1183-1200, 2022 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35475527
8.
Mutation update: The spectra of PLEC sequence variants and related plectinopathies.
Hum Mutat;
43(12): 1706-1731, 2022 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35815343
9.
The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals.
Hum Mutat;
43(12): 1872-1881, 2022 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36317459
10.
Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort.
Genet Med;
24(1): 75-86, 2022 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34906475
11.
Whole-transcriptome sequencing identifies postzygotic ATP2A2 mutations in a patient misdiagnosed with herpes zoster, confirming the diagnosis of very late-onset segmental Darier disease.
Exp Dermatol;
31(6): 943-948, 2022 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35246884
12.
Novel PTCH1 and concurrent TP53 mutations in four patients with numerous non-syndromic basal cell carcinomas: The paradigm of oncogenic synergy.
Exp Dermatol;
31(5): 736-742, 2022 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34862824
13.
Pathogenic DST sequence variants result in either epidermolysis bullosa simplex (EBS) or hereditary sensory and autonomic neuropathy type 6 (HSAN-VI).
Exp Dermatol;
31(6): 949-955, 2022 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35276021
14.
Oral supplementation of inorganic pyrophosphate in pseudoxanthoma elasticum.
Exp Dermatol;
31(4): 548-555, 2022 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34758173
15.
INZ-701, a recombinant ENPP1 enzyme, prevents ectopic calcification in an Abcc6-/- mouse model of pseudoxanthoma elasticum.
Exp Dermatol;
31(7): 1095-1101, 2022 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35511611
16.
T-cell activation and bacterial infection in skin wounds of recessive dystrophic epidermolysis bullosa patients.
Exp Dermatol;
31(9): 1431-1442, 2022 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35620886
17.
Losartan treatment improves recessive dystrophic epidermolysis bullosa: A case series.
Dermatol Ther;
35(7): e15515, 2022 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35420725
18.
Ichthyosis follicularis syndromes in patients with mutations in GJB2.
Clin Exp Dermatol;
47(8): 1561-1566, 2022 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35396755
19.
Whole-Transcriptome Analysis by RNA Sequencing for Genetic Diagnosis of Mendelian Skin Disorders in the Context of Consanguinity.
Clin Chem;
67(6): 876-888, 2021 06 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33969388
20.
A phytic acid analogue INS-3001 prevents ectopic calcification in an Abcc6-/- mouse model of pseudoxanthoma elasticum.
Exp Dermatol;
30(6): 853-858, 2021 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33523493