225 related articles for article (PubMed ID: 21538020)
1. ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type.
Furuichi T; Masuya H; Murakami T; Nishida K; Nishimura G; Suzuki T; Imaizumi K; Kudo T; Ohkawa K; Wakana S; Ikegawa S
Mamm Genome; 2011 Jun; 22(5-6):318-28. PubMed ID: 21538020
[TBL] [Abstract][Full Text] [Related]
2. Endoplasmic reticulum stress-mediated apoptosis contributes to a skeletal dysplasia resembling platyspondylic lethal skeletal dysplasia, Torrance type, in a novel Col2a1 mutant mouse line.
Kimura M; Ichimura S; Sasaki K; Masuya H; Suzuki T; Wakana S; Ikegawa S; Furuichi T
Biochem Biophys Res Commun; 2015 Dec 4-11; 468(1-2):86-91. PubMed ID: 26545783
[TBL] [Abstract][Full Text] [Related]
3. Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies.
Zankl A; Neumann L; Ignatius J; Nikkels P; Schrander-Stumpel C; Mortier G; Omran H; Wright M; Hilbert K; Bonafé L; Spranger J; Zabel B; Superti-Furga A
Am J Med Genet A; 2005 Feb; 133A(1):61-7. PubMed ID: 15643621
[TBL] [Abstract][Full Text] [Related]
4. Platyspondylic lethal dysplasia torrance type with a heterozygous mutation in the triple helical domain of COL2A1 in two sibs from phenotypically normal parents.
Okamoto T; Nagaya K; Asai H; Tsuchida E; Nohara F; Hayashi T; Yamashita A; Nishimura G; Azuma H
Am J Med Genet A; 2012 Aug; 158A(8):1953-6. PubMed ID: 22711552
[TBL] [Abstract][Full Text] [Related]
5. Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation.
Désir J; Cassart M; Donner C; Coucke P; Abramowicz M; Mortier G
Am J Med Genet A; 2012 Aug; 158A(8):1948-52. PubMed ID: 22495950
[TBL] [Abstract][Full Text] [Related]
6. A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to a Col2a1 mutation.
Esapa CT; Hough TA; Testori S; Head RA; Crane EA; Chan CP; Evans H; Bassett JH; Tylzanowski P; McNally EG; Carr AJ; Boyde A; Howell PG; Clark A; Williams GR; Brown MA; Croucher PI; Nesbit MA; Brown SD; Cox RD; Cheeseman MT; Thakker RV
J Bone Miner Res; 2012 Feb; 27(2):413-28. PubMed ID: 22028304
[TBL] [Abstract][Full Text] [Related]
7. Endoplasmic reticulum stress-unfolding protein response-apoptosis cascade causes chondrodysplasia in a col2a1 p.Gly1170Ser mutated mouse model.
Liang G; Lian C; Huang D; Gao W; Liang A; Peng Y; Ye W; Wu Z; Su P; Huang D
PLoS One; 2014; 9(1):e86894. PubMed ID: 24475193
[TBL] [Abstract][Full Text] [Related]
8. Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1.
Zankl A; Zabel B; Hilbert K; Wildhardt G; Cuenot S; Xavier B; Ha-Vinh R; Bonafé L; Spranger J; Superti-Furga A
Am J Med Genet A; 2004 Aug; 129A(2):144-8. PubMed ID: 15316962
[TBL] [Abstract][Full Text] [Related]
9. A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis.
Donahue LR; Chang B; Mohan S; Miyakoshi N; Wergedal JE; Baylink DJ; Hawes NL; Rosen CJ; Ward-Bailey P; Zheng QY; Bronson RT; Johnson KR; Davisson MT
J Bone Miner Res; 2003 Sep; 18(9):1612-21. PubMed ID: 12968670
[TBL] [Abstract][Full Text] [Related]
10. Integrated analysis of COL2A1 variant data and classification of type II collagenopathies.
Zhang B; Zhang Y; Wu N; Li J; Liu H; Wang J
Clin Genet; 2020 Mar; 97(3):383-395. PubMed ID: 31758797
[TBL] [Abstract][Full Text] [Related]
11. Czech dysplasia metatarsal type: another type II collagen disorder.
Hoornaert KP; Marik I; Kozlowski K; Cole T; Le Merrer M; Leroy JG; Coucke PJ; Sillence D; Mortier GR
Eur J Hum Genet; 2007 Dec; 15(12):1269-75. PubMed ID: 17726487
[TBL] [Abstract][Full Text] [Related]
12. Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report.
Chen J; Ma X; Zhou Y; Li G; Guo Q
BMC Pediatr; 2017 Jul; 17(1):175. PubMed ID: 28738883
[TBL] [Abstract][Full Text] [Related]
13. Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton type.
Neumann L; Kunze J; Uhl M; Stöver B; Zabel B; Spranger J
Pediatr Radiol; 2003 Nov; 33(11):786-90. PubMed ID: 12961049
[TBL] [Abstract][Full Text] [Related]
14. Short stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: a case report.
Sangsin A; Srichomthong C; Pongpanich M; Suphapeetiporn K; Shotelersuk V
BMC Med Genet; 2016 Dec; 17(1):96. PubMed ID: 27955642
[TBL] [Abstract][Full Text] [Related]
15. Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations.
Brodie SG; Kitoh H; Lachman RS; Nolasco LM; Mekikian PB; Wilcox WR
Am J Med Genet; 1999 Jun; 84(5):476-80. PubMed ID: 10360402
[TBL] [Abstract][Full Text] [Related]
16. Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.
Barat-Houari M; Sarrabay G; Gatinois V; Fabre A; Dumont B; Genevieve D; Touitou I
Hum Mutat; 2016 Jan; 37(1):7-15. PubMed ID: 26443184
[TBL] [Abstract][Full Text] [Related]
17. COL2A1-related skeletal dysplasias with predominant metaphyseal involvement.
Walter K; Tansek M; Tobias ES; Ikegawa S; Coucke P; Hyland J; Mortier G; Iwaya T; Nishimura G; Superti-Furga A; Unger S
Am J Med Genet A; 2007 Jan; 143A(2):161-7. PubMed ID: 17163530
[TBL] [Abstract][Full Text] [Related]
18. Disproportionate micromelia (Dmm) in mice caused by a mutation in the C-propeptide coding region of Col2a1.
Pace JM; Li Y; Seegmiller RE; Teuscher C; Taylor BA; Olsen BR
Dev Dyn; 1997 Jan; 208(1):25-33. PubMed ID: 8989518
[TBL] [Abstract][Full Text] [Related]
19. Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I.
Markova T; Kenis V; Melchenko E; Osipova D; Nagornova T; Orlova A; Zakharova E; Dadali E; Kutsev S
Genes (Basel); 2022 Jan; 13(1):. PubMed ID: 35052477
[TBL] [Abstract][Full Text] [Related]
20. A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia.
Zabel B; Hilbert K; Stöss H; Superti-Furga A; Spranger J; Winterpacht A
Am J Med Genet; 1996 May; 63(1):123-8. PubMed ID: 8723097
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
