Detalhe da pesquisa
1.
The discovery of NLRP3 and its function in cryopyrin-associated periodic syndromes and innate immunity.
Immunol Rev
; 322(1): 259-282, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38146057
2.
Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory Syndrome.
N Engl J Med
; 388(24): 2241-2252, 2023 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37256972
3.
Insights into DNA cleavage by MutL homologs from analysis of conserved motifs in eukaryotic Mlh1.
Bioessays
; 45(9): e2300031, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37424007
4.
The unstructured linker of Mlh1 contains a motif required for endonuclease function which is mutated in cancers.
Proc Natl Acad Sci U S A
; 119(42): e2212870119, 2022 10 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36215471
5.
Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function.
Blood
; 137(18): 2450-2462, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33512449
6.
FEN1 endonuclease as a therapeutic target for human cancers with defects in homologous recombination.
Proc Natl Acad Sci U S A
; 117(32): 19415-19424, 2020 08 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32719125
7.
Disease-associated mutations in topoisomerase IIß result in defective NK cells.
J Allergy Clin Immunol
; 149(6): 2171-2176.e3, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35063500
8.
PCNA and Msh2-Msh6 activate an Mlh1-Pms1 endonuclease pathway required for Exo1-independent mismatch repair.
Mol Cell
; 55(2): 291-304, 2014 Jul 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-24981171
9.
Essential Saccharomyces cerevisiae genome instability suppressing genes identify potential human tumor suppressors.
Proc Natl Acad Sci U S A
; 116(35): 17377-17382, 2019 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31409704
10.
SUMO E3 ligase Mms21 prevents spontaneous DNA damage induced genome rearrangements.
PLoS Genet
; 14(3): e1007250, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29505562
11.
Cdc73 suppresses genome instability by mediating telomere homeostasis.
PLoS Genet
; 14(1): e1007170, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29320491
12.
EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome.
Hum Mutat
; 40(2): 142-161, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30461124
13.
The properties of Msh2-Msh6 ATP binding mutants suggest a signal amplification mechanism in DNA mismatch repair.
J Biol Chem
; 293(47): 18055-18070, 2018 11 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-30237169
14.
Correction: Distinct SUMO Ligases Cooperate with Esc2 and Slx5 to Suppress Duplication-Mediated Genome Rearrangements.
PLoS Genet
; 12(8): e1006302, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27579875
15.
MutS sliding clamps on an uncertain track to DNA mismatch repair.
Proc Natl Acad Sci U S A
; 117(34): 20351-20353, 2020 08 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32753381
16.
DNA repair pathway selection caused by defects in TEL1, SAE2, and de novo telomere addition generates specific chromosomal rearrangement signatures.
PLoS Genet
; 10(4): e1004277, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24699249
17.
Mlh2 is an accessory factor for DNA mismatch repair in Saccharomyces cerevisiae.
PLoS Genet
; 10(5): e1004327, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24811092
18.
A Case of Severe Combined Immunodeficiency Missed by Newborn Screening.
J Clin Immunol
; 41(6): 1352-1355, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33712943
19.
Distinct SUMO ligases cooperate with Esc2 and Slx5 to suppress duplication-mediated genome rearrangements.
PLoS Genet
; 9(8): e1003670, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23935535
20.
Dominant mutations in S. cerevisiae PMS1 identify the Mlh1-Pms1 endonuclease active site and an exonuclease 1-independent mismatch repair pathway.
PLoS Genet
; 9(10): e1003869, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24204293