Detalhe da pesquisa
1.
Genetic risk of osteoarthritis operates during human skeletogenesis.
Hum Mol Genet
; 32(13): 2124-2138, 2023 06 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36209419
2.
Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.
Am J Hum Genet
; 109(5): 928-943, 2022 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35397207
3.
Three decades of advancements in osteoarthritis research: insights from transcriptomic, proteomic, and metabolomic studies.
Osteoarthritis Cartilage
; 32(4): 385-397, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38049029
4.
Evolution and advancements in genomics and epigenomics in OA research: How far we have come.
Osteoarthritis Cartilage
; 2024 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38428513
5.
Osteoarthritis as an Enhanceropathy: Gene Regulation in Complex Musculoskeletal Disease.
Curr Rheumatol Rep
; 26(6): 222-234, 2024 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38430365
6.
ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.
Am J Hum Genet
; 103(4): 612-620, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30269812
7.
Genome-wide association of phenotypes based on clustering patterns of hand osteoarthritis identify WNT9A as novel osteoarthritis gene.
Ann Rheum Dis
; 80(3): 367-375, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33055079
8.
Identification of a novel, methylation-dependent, RUNX2 regulatory region associated with osteoarthritis risk.
Hum Mol Genet
; 27(19): 3464-3474, 2018 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30010910
9.
Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families.
Pediatr Nephrol
; 34(9): 1615-1623, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31079206
10.
Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.
J Am Soc Nephrol
; 26(3): 543-51, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25296721
11.
Specific isoforms of the ubiquitin ligase gene WWP2 are targets of osteoarthritis genetic risk via a differentially methylated DNA sequence.
Arthritis Res Ther
; 26(1): 78, 2024 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38570801
12.
Epigenetic mechanisms of osteoarthritis risk in human skeletal development.
medRxiv
; 2024 May 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38766055
13.
Mediation of the Same Epigenetic and Transcriptional Effect by Independent Osteoarthritis Risk-Conferring Alleles on a Shared Target Gene, COLGALT2.
Arthritis Rheumatol
; 75(6): 910-922, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36538011
14.
Osteoarthritis genetic risk acting on the galactosyltransferase gene COLGALT2 has opposing functional effects in articulating joint tissues.
Arthritis Res Ther
; 25(1): 83, 2023 05 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37208701
15.
Identification of TMEM129, encoding a ubiquitin-protein ligase, as an effector gene of osteoarthritis genetic risk.
Arthritis Res Ther
; 24(1): 189, 2022 08 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35941660
16.
Genetic and Epigenetic Interplay Within a COLGALT2 Enhancer Associated With Osteoarthritis.
Arthritis Rheumatol
; 73(10): 1856-1865, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33760386
17.
Case Report: A Novel In-Frame Deletion of GLIS2 Leading to Nephronophthisis and Early Onset Kidney Failure.
Front Genet
; 12: 791495, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34917135
18.
Genetic and Epigenetic Fine-Tuning of TGFB1 Expression Within the Human Osteoarthritic Joint.
Arthritis Rheumatol
; 73(10): 1866-1877, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33760378
19.
Multi-Tissue Epigenetic and Gene Expression Analysis Combined With Epigenome Modulation Identifies RWDD2B as a Target of Osteoarthritis Susceptibility.
Arthritis Rheumatol
; 73(1): 100-109, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32755071
20.
Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome.
Brain Commun
; 3(3): fcab163, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34423300