52 related articles for article (PubMed ID: 21042783)
1. An inducible cartilage oligomeric matrix protein mouse model recapitulates human pseudoachondroplasia phenotype.
Posey KL; Veerisetty AC; Liu P; Wang HR; Poindexter BJ; Bick R; Alcorn JL; Hecht JT
Am J Pathol; 2009 Oct; 175(4):1555-63. PubMed ID: 19762713
[TBL] [Abstract][Full Text] [Related]
2. Mutant COMP shapes growth and development of skull and facial structures in mice and humans.
Burger A; Roosenboom J; Hossain M; Weinberg SM; Hecht JT; Posey KL
Mol Genet Genomic Med; 2020 Jul; 8(7):e1251. PubMed ID: 32347019
[TBL] [Abstract][Full Text] [Related]
3. Model systems for studying skeletal dysplasias caused by TSP-5/COMP mutations.
Posey KL; Yang Y; Veerisetty AC; Sharan SK; Hecht JT
Cell Mol Life Sci; 2008 Mar; 65(5):687-99. PubMed ID: 18193163
[TBL] [Abstract][Full Text] [Related]
4. Case Report: Whole-exome sequencing identified two novel COMP variants causing pseudoachondroplasia.
Zhou L; Chen J; Liu Q; Yang S; Xie W; Peng Y
Front Endocrinol (Lausanne); 2023; 14():1267946. PubMed ID: 38075060
[TBL] [Abstract][Full Text] [Related]
5. Novel therapeutic interventions for pseudoachondroplasia.
Posey KL; Hecht JT
Bone; 2017 Sep; 102():60-68. PubMed ID: 28336490
[TBL] [Abstract][Full Text] [Related]
6. Cartilage oligomeric matrix protein: COMPopathies and beyond.
Posey KL; Coustry F; Hecht JT
Matrix Biol; 2018 Oct; 71-72():161-173. PubMed ID: 29530484
[TBL] [Abstract][Full Text] [Related]
7. Recurrent Mutation (p.Arg718Pro) in the
Toral López J; González Huerta LM
Mol Syndromol; 2023 Aug; 14(4):341-346. PubMed ID: 37766828
[TBL] [Abstract][Full Text] [Related]
8. Early Resveratrol Treatment Mitigates Joint Degeneration and Dampens Pain in a Mouse Model of Pseudoachondroplasia (PSACH).
Hecht JT; Veerisetty AC; Patra D; Hossain MG; Chiu F; Mobed C; Gannon FH; Posey KL
Biomolecules; 2023 Oct; 13(10):. PubMed ID: 37892235
[TBL] [Abstract][Full Text] [Related]
9. Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy.
Jackson GC; Marcus-Soekarman D; Stolte-Dijkstra I; Verrips A; Taylor JA; Briggs MD
Am J Med Genet A; 2010 Apr; 152A(4):863-9. PubMed ID: 20358595
[TBL] [Abstract][Full Text] [Related]
10. D469del-COMP retention in chondrocytes stimulates caspase-independent necroptosis.
Coustry F; Posey KL; Liu P; Alcorn JL; Hecht JT
Am J Pathol; 2012 Feb; 180(2):738-48. PubMed ID: 22154936
[TBL] [Abstract][Full Text] [Related]
11. Novel and recurrent
Hasegawa K; Futagawa N; Ago Y; Miyahara H; Harada D; Miyazawa M; Yoshimoto J; Baba K; Moriwake T; Tanaka H; Tsukahara H
Clin Pediatr Endocrinol; 2023; 32(4):221-227. PubMed ID: 37842142
[TBL] [Abstract][Full Text] [Related]
12. Resveratrol Reduces COMPopathy in Mice Through Activation of Autophagy.
Hecht JT; Coustry F; Veerisetty AC; Hossain MG; Posey KL
JBMR Plus; 2021 Mar; 5(3):e10456. PubMed ID: 33778324
[TBL] [Abstract][Full Text] [Related]
13. Analysis of copy number variation in dogs implicates genomic structural variation in the development of anterior cruciate ligament rupture.
Binversie EE; Baker LA; Engelman CD; Hao Z; Moran JJ; Piazza AM; Sample SJ; Muir P
PLoS One; 2020; 15(12):e0244075. PubMed ID: 33382735
[TBL] [Abstract][Full Text] [Related]
14. A novel mutation in exon 11 of COMP gene in a Chinese family with pseudoachondroplasia.
Chen J; Zhang W; He J; Zhang R; Cao Y; Liu X
Genes Dis; 2019 Mar; 6(1):47-55. PubMed ID: 30906833
[TBL] [Abstract][Full Text] [Related]
15. COMP and Col9A3 mutations and their relationship to the pseudoachondroplasia phenotype.
Jung WW; Balce GC; Cho JW; Jung SC; Hong SJ; Song HR
Int J Mol Med; 2010 Dec; 26(6):885-91. PubMed ID: 21042783
[TBL] [Abstract][Full Text] [Related]
16. 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.
Jackson GC; Mittaz-Crettol L; Taylor JA; Mortier GR; Spranger J; Zabel B; Le Merrer M; Cormier-Daire V; Hall CM; Offiah A; Wright MJ; Savarirayan R; Nishimura G; Ramsden SC; Elles R; Bonafe L; Superti-Furga A; Unger S; Zankl A; Briggs MD
Hum Mutat; 2012 Jan; 33(1):144-57. PubMed ID: 21922596
[TBL] [Abstract][Full Text] [Related]
17. A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.
Czarny-Ratajczak M; Lohiniva J; Rogala P; Kozlowski K; Perälä M; Carter L; Spector TD; Kolodziej L; Seppänen U; Glazar R; Królewski J; Latos-Bielenska A; Ala-Kokko L
Am J Hum Genet; 2001 Nov; 69(5):969-80. PubMed ID: 11565064
[TBL] [Abstract][Full Text] [Related]
18.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
19.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]