Detalhe da pesquisa
1.
Ubiquitination of DNA Damage-Stalled RNAPII Promotes Transcription-Coupled Repair.
Cell
; 180(6): 1228-1244.e24, 2020 03 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-32142649
2.
Mitochondria-associated membrane collapse impairs TBK1-mediated proteostatic stress response in ALS.
Proc Natl Acad Sci U S A
; 120(47): e2315347120, 2023 Nov 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37967220
3.
Deep intronic founder mutations identified in the ERCC4/XPF gene are potential therapeutic targets for a high-frequency form of xeroderma pigmentosum.
Proc Natl Acad Sci U S A
; 120(27): e2217423120, 2023 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37364129
4.
Astrocytic phagocytosis is a compensatory mechanism for microglial dysfunction.
EMBO J
; 39(22): e104464, 2020 11 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-32959911
5.
Dyssegmental dysplasia Rolland-Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients.
J Hum Genet
; 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38424183
6.
Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants.
Exp Dermatol
; 33(4): e15072, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38576105
7.
Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.
Hum Mol Genet
; 30(18): 1711-1720, 2021 08 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33909043
8.
Topoisomerase I-driven repair of UV-induced damage in NER-deficient cells.
Proc Natl Acad Sci U S A
; 117(25): 14412-14420, 2020 06 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-32513688
9.
Extremely low-frequency electromagnetic field induces acetylation of heat shock proteins and enhances protein folding.
Ecotoxicol Environ Saf
; 264: 115482, 2023 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37717354
10.
Ceramide Analysis in Combination With Genetic Testing May Provide a Precise Diagnosis for Self-Healing Collodion Babies.
J Lipid Res
; 63(12): 100308, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36332686
11.
Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype.
Am J Hum Genet
; 105(2): 434-440, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31374204
12.
Expanding the phenotypic spectrum of ARCN1-related syndrome.
Genet Med
; 24(6): 1227-1237, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35300924
13.
Detection of antiviral drug resistance in patients with congenital cytomegalovirus infection using long-read sequencing: a retrospective observational study.
BMC Infect Dis
; 22(1): 568, 2022 Jun 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35733089
14.
Deep Phenotyping of Superficial Epidermolytic Ichthyosis due to a Recurrent Mutation in KRT2.
Int J Mol Sci
; 23(14)2022 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35887135
15.
Temporal dynamics of the plasma microbiome in recipients at early post-liver transplantation: a retrospective study.
BMC Microbiol
; 21(1): 104, 2021 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33823791
16.
Expanding the phenotype of biallelic loss-of-function variants in the NSUN2 gene: Description of four individuals with juvenile cataract, chronic nephritis, or brain anomaly as novel complications.
Am J Med Genet A
; 185(1): 282-285, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33084202
17.
Pediatric sepsis cases diagnosed with group B streptococcal meningitis using next-generation sequencing: a report of two cases.
BMC Infect Dis
; 21(1): 531, 2021 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34090359
18.
Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex.
J Med Genet
; 57(4): 245-253, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31712251
19.
Novel function of HATs and HDACs in homologous recombination through acetylation of human RAD52 at double-strand break sites.
PLoS Genet
; 14(3): e1007277, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29590107
20.
Comprehensive pathogen detection in sera of Kawasaki disease patients by high-throughput sequencing: a retrospective exploratory study.
BMC Pediatr
; 20(1): 482, 2020 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33059644