152 related articles for article (PubMed ID: 8702490)
1. Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter.
Rossi A; Bonaventure J; Delezoide AL; Cetta G; Superti-Furga A
J Biol Chem; 1996 Aug; 271(31):18456-64. PubMed ID: 8702490
[TBL] [Abstract][Full Text] [Related]
2. Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2.
Rossi A; Bonaventure J; Delezoide AL; Superti-Furga A; Cetta G
Eur J Biochem; 1997 Sep; 248(3):741-7. PubMed ID: 9342225
[TBL] [Abstract][Full Text] [Related]
3. In vitro proteoglycan sulfation derived from sulfhydryl compounds in sulfate transporter chondrodysplasias.
Rossi A; Cetta G; Piazza R; Bonaventure J; Steinmann B; Supereti-Furga A
Pediatr Pathol Mol Med; 2003; 22(4):311-21. PubMed ID: 14692227
[TBL] [Abstract][Full Text] [Related]
4. Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate production.
Rossi A; Kaitila I; Wilcox WR; Rimoin DL; Steinmann B; Cetta G; Superti-Furga A
Matrix Biol; 1998 Oct; 17(5):361-9. PubMed ID: 9822202
[TBL] [Abstract][Full Text] [Related]
5. Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype.
Karniski LP
Hum Mol Genet; 2001 Jul; 10(14):1485-90. PubMed ID: 11448940
[TBL] [Abstract][Full Text] [Related]
6. Functional analysis of diastrophic dysplasia sulfate transporter. Its involvement in growth regulation of chondrocytes mediated by sulfated proteoglycans.
Satoh H; Susaki M; Shukunami C; Iyama K; Negoro T; Hiraki Y
J Biol Chem; 1998 May; 273(20):12307-15. PubMed ID: 9575183
[TBL] [Abstract][Full Text] [Related]
7. In vivo contribution of amino acid sulfur to cartilage proteoglycan sulfation.
Pecora F; Gualeni B; Forlino A; Superti-Furga A; Tenni R; Cetta G; Rossi A
Biochem J; 2006 Sep; 398(3):509-14. PubMed ID: 16719839
[TBL] [Abstract][Full Text] [Related]
8. Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.
Superti-Furga A; Hästbacka J; Wilcox WR; Cohn DH; van der Harten HJ; Rossi A; Blau N; Rimoin DL; Steinmann B; Lander ES; Gitzelmann R
Nat Genet; 1996 Jan; 12(1):100-2. PubMed ID: 8528239
[No Abstract] [Full Text] [Related]
9. Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance.
Rossi A; Superti-Furga A
Hum Mutat; 2001 Mar; 17(3):159-71. PubMed ID: 11241838
[TBL] [Abstract][Full Text] [Related]
10. A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype.
Forlino A; Piazza R; Tiveron C; Della Torre S; Tatangelo L; Bonafè L; Gualeni B; Romano A; Pecora F; Superti-Furga A; Cetta G; Rossi A
Hum Mol Genet; 2005 Mar; 14(6):859-71. PubMed ID: 15703192
[TBL] [Abstract][Full Text] [Related]
11. Achondrogenesis type IB: agenesis of cartilage interterritorial matrix as the link between gene defect and pathological skeletal phenotype.
Corsi A; Riminucci M; Fisher LW; Bianco P
Arch Pathol Lab Med; 2001 Oct; 125(10):1375-8. PubMed ID: 11570921
[TBL] [Abstract][Full Text] [Related]
12. Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells.
Karniski LP
Hum Mol Genet; 2004 Oct; 13(19):2165-71. PubMed ID: 15294877
[TBL] [Abstract][Full Text] [Related]
13. Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.
Hästbacka J; Superti-Furga A; Wilcox WR; Rimoin DL; Cohn DH; Lander ES
Am J Hum Genet; 1996 Feb; 58(2):255-62. PubMed ID: 8571951
[TBL] [Abstract][Full Text] [Related]
14. A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB.
Superti-Furga A
Am J Hum Genet; 1994 Dec; 55(6):1137-45. PubMed ID: 7977372
[TBL] [Abstract][Full Text] [Related]
15. A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia.
Maeda K; Miyamoto Y; Sawai H; Karniski LP; Nakashima E; Nishimura G; Ikegawa S
Am J Med Genet A; 2006 Jun; 140(11):1143-7. PubMed ID: 16642506
[TBL] [Abstract][Full Text] [Related]
16. Insights from a transgenic mouse model on the role of SLC26A2 in health and disease.
Forlino A; Gualeni B; Pecora F; Della Torre S; Piazza R; Tiveron C; Tatangelo L; Superti-Furga A; Cetta G; Rossi A
Novartis Found Symp; 2006; 273():193-206; discussion 206-12, 261-4. PubMed ID: 17120769
[TBL] [Abstract][Full Text] [Related]
17. A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans.
Superti-Furga A; Hästbacka J; Rossi A; van der Harten JJ; Wilcox WR; Cohn DH; Rimoin DL; Steinmann B; Lander ES; Gitzelmann R
Ann N Y Acad Sci; 1996 Jun; 785():195-201. PubMed ID: 8702127
[No Abstract] [Full Text] [Related]
18. Stimulation by concanavalin A of cartilage-matrix proteoglycan synthesis in chondrocyte cultures.
Yan WQ; Nakashima K; Iwamoto M; Kato Y
J Biol Chem; 1990 Jun; 265(17):10125-31. PubMed ID: 2351653
[TBL] [Abstract][Full Text] [Related]
19. A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations.
Superti-Furga A; Rossi A; Steinmann B; Gitzelmann R
Am J Med Genet; 1996 May; 63(1):144-7. PubMed ID: 8723100
[TBL] [Abstract][Full Text] [Related]
20. Synthesis of chondroitin sulfate D and heparin proteoglycans in murine lymph node-derived mast cells. The dependence on fibroblasts.
Davidson S; Gilead L; Amira M; Ginsburg H; Razin E
J Biol Chem; 1990 Jul; 265(21):12324-30. PubMed ID: 2115517
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
