Detalhe da pesquisa
1.
Curcumin Reduces Pathological Endoplasmic Reticulum Stress through Increasing Proteolysis of Mutant Matrilin-3.
Int J Mol Sci
; 24(2)2023 Jan 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36675026
2.
XBP1 signalling is essential for alleviating mutant protein aggregation in ER-stress related skeletal disease.
PLoS Genet
; 15(7): e1008215, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31260448
3.
Multiple epiphyseal dysplasia and related disorders: Molecular genetics, disease mechanisms, and therapeutic avenues.
Dev Dyn
; 250(3): 345-359, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32633442
4.
Armet/Manf and Creld2 are components of a specialized ER stress response provoked by inappropriate formation of disulphide bonds: implications for genetic skeletal diseases.
Hum Mol Genet
; 22(25): 5262-75, 2013 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-23956175
5.
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity.
Am J Hum Genet
; 89(6): 767-72, 2011 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-22152678
6.
Loss of matrilin 1 does not exacerbate the skeletal phenotype in a mouse model of multiple epiphyseal dysplasia caused by a Matn3 V194D mutation.
Arthritis Rheum
; 64(5): 1529-39, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22083516
7.
A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia.
Hum Mutat
; 33(1): 218-31, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22006726
8.
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
Hum Mutat
; 33(1): 144-57, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21922596
9.
A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia.
Hum Mol Genet
; 19(1): 52-64, 2010 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19808781
10.
A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.
Am J Hum Genet
; 84(1): 72-9, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19110214
11.
Targeted induction of endoplasmic reticulum stress induces cartilage pathology.
PLoS Genet
; 5(10): e1000691, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19834559
12.
CRELD2 is a novel modulator of calcium release and calcineurin-NFAT signalling during osteoclast differentiation.
Sci Rep
; 12(1): 13884, 2022 08 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35974042
13.
Structural and functional investigations of Matrilin-1 A-domains reveal insights into their role in cartilage ECM assembly.
J Biol Chem
; 285(44): 34048-61, 2010 Oct 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-20729554
14.
Increased hippocampal excitability in miR-324-null mice.
Sci Rep
; 11(1): 10452, 2021 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34001919
15.
The unfolded protein response and its relevance to connective tissue diseases.
Cell Tissue Res
; 339(1): 197-211, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19851784
16.
Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy.
Am J Med Genet A
; 152A(4): 863-9, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20358595
17.
Skeletal dysplasias associated with mild myopathy-a clinical and molecular review.
J Biomed Biotechnol
; 2010: 686457, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20508815
18.
New developments in chondrocyte ER stress and related diseases.
F1000Res
; 92020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32399188
19.
CRELD2 Is a Novel LRP1 Chaperone That Regulates Noncanonical WNT Signaling in Skeletal Development.
J Bone Miner Res
; 35(8): 1452-1469, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32181934
20.
Cartilage endoplasmic reticulum stress may influence the onset but not the progression of experimental osteoarthritis.
Arthritis Res Ther
; 21(1): 206, 2019 09 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31511053