메뉴 건너뛰기




Volumn 273, Issue , 2006, Pages 193-206

Insights from a transgenic mouse model on the role of SLC26A2 in health and disease

Author keywords

[No Author keywords available]

Indexed keywords

ANION TRANSPORT PROTEIN; CHONDROITIN SULFATE; SLC26A2 PROTEIN, MOUSE; SULFATE;

EID: 39049180506     PISSN: 15282511     EISSN: None     Source Type: Book Series    
DOI: None     Document Type: Conference Paper
Times cited : (5)

References (26)
  • 1
    • 0033953284 scopus 로고    scopus 로고
    • The STAS domain - a link between anion transporters and antisigma-factor antagonists [letter]
    • Aravind L, Koonin EV 2000 The STAS domain - a link between anion transporters and antisigma-factor antagonists [letter]. Curr Biol 10:R53-55
    • (2000) Curr Biol , vol.10
    • Aravind, L.1    Koonin, E.V.2
  • 2
    • 0037238318 scopus 로고    scopus 로고
    • Recessive multiple epiphyseal dysplasia (rMED): Phenotype delineation in eighteen homozygotes for DTDST mutation R279W
    • Ballhausen D, Bonafe L, Terhal P et al 2003 Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. J Med Genet 40:65-71
    • (2003) J Med Genet , vol.40 , pp. 65-71
    • Ballhausen, D.1    Bonafe, L.2    Terhal, P.3
  • 3
    • 0027935348 scopus 로고
    • Functional expression cloning of the canalicular sulfate transport system of rat hepatocytes
    • Bissig M, Hagenbuch B, Stieger B, Koller T, Meier PJ 1994 Functional expression cloning of the canalicular sulfate transport system of rat hepatocytes. J Biol Chem 269:3017-3021
    • (1994) J Biol Chem , vol.269 , pp. 3017-3021
    • Bissig, M.1    Hagenbuch, B.2    Stieger, B.3    Koller, T.4    Meier, P.J.5
  • 4
    • 0027483994 scopus 로고
    • Lysosomal sulfate efflux following glycosaminoglycan degradation: Measurements in enzyme-supplemented Maroteaux-Lamy syndrome fibroblasts and isolated lysosomes
    • Harper GS, Rozaklis T, Bielicki J, Hopwood JJ 1993 Lysosomal sulfate efflux following glycosaminoglycan degradation: measurements in enzyme-supplemented Maroteaux-Lamy syndrome fibroblasts and isolated lysosomes. Glycoconj J 10:407-415
    • (1993) Glycoconj J , vol.10 , pp. 407-415
    • Harper, G.S.1    Rozaklis, T.2    Bielicki, J.3    Hopwood, J.J.4
  • 5
    • 0027978110 scopus 로고
    • The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping
    • Hastbacka J, de la Chapelle A, Mahtani MM et al 1994 The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell 78:1073-1087
    • (1994) Cell , vol.78 , pp. 1073-1087
    • Hastbacka, J.1    de la Chapelle, A.2    Mahtani, M.M.3
  • 6
    • 0030048174 scopus 로고    scopus 로고
    • 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 et al 1996 Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. Am J Hum Genet 58:255-262
    • (1996) Am J Hum Genet , vol.58 , pp. 255-262
    • Hästbacka, J.1    Superti-Furga, A.2    Wilcox, W.R.3
  • 7
    • 0034672636 scopus 로고    scopus 로고
    • Mapping of five new putative anion transporter genes in human and characterization of SLC26A6, a candidate gene for pancreatic anion exchanger
    • Lohi H, Kujala M, Kerkela E et al 2000 Mapping of five new putative anion transporter genes in human and characterization of SLC26A6, a candidate gene for pancreatic anion exchanger. Genomics 70:102-112
    • (2000) Genomics , vol.70 , pp. 102-112
    • Lohi, H.1    Kujala, M.2    Kerkela, E.3
  • 8
    • 0037134440 scopus 로고    scopus 로고
    • Functional characterization of three novel tissue-specific anion exchangers SLC26A7, -A8, and -A9
    • Lohi H, Kujala M, Makela S et al 2002 Functional characterization of three novel tissue-specific anion exchangers SLC26A7, -A8, and -A9. J Biol Chem 277:14246-14254
    • (2002) J Biol Chem , vol.277 , pp. 14246-14254
    • Lohi, H.1    Kujala, M.2    Makela, S.3
  • 9
    • 0035957373 scopus 로고    scopus 로고
    • Reciprocal electromechanical properties of rat prestin: The motor molecule from rat outer hair cells
    • Ludwig J, Oliver D, Frank G et al 2001 Reciprocal electromechanical properties of rat prestin: the motor molecule from rat outer hair cells. Proc Natl Acad Sci USA 98:4178-4183
    • (2001) Proc Natl Acad Sci USA , vol.98 , pp. 4178-4183
    • Ludwig, J.1    Oliver, D.2    Frank, G.3
  • 10
    • 0037097976 scopus 로고    scopus 로고
    • FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease
    • Ornitz DM, Marie PJ 2002 FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease. Genes Dev 16:1446-1465
    • (2002) Genes Dev , vol.16 , pp. 1446-1465
    • Ornitz, D.M.1    Marie, P.J.2
  • 13
    • 0035112301 scopus 로고    scopus 로고
    • Rossi A, Superti-Furga A 2001 Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. Hum Mutat 17:159-171 (Erratum in Hum Mutat 18:82)
    • Rossi A, Superti-Furga A 2001 Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. Hum Mutat 17:159-171 (Erratum in Hum Mutat 18:82)
  • 14
    • 0029770443 scopus 로고    scopus 로고
    • 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 1996 Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter. J Biol Chem 271:18456-18464
    • (1996) J Biol Chem , vol.271 , pp. 18456-18464
    • Rossi, A.1    Bonaventure, J.2    Delezoide, A.L.3    Cetta, G.4    Superti-Furga, A.5
  • 15
    • 0030851128 scopus 로고    scopus 로고
    • 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 1997 Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2. Eur J Biochem 248:741-747
    • (1997) Eur J Biochem , vol.248 , pp. 741-747
    • Rossi, A.1    Bonaventure, J.2    Delezoide, A.L.3    Superti-Furga, A.4    Cetta, G.5
  • 16
    • 0031790548 scopus 로고    scopus 로고
    • 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 et al 1998 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. Matrix Biol 17:361-369
    • (1998) Matrix Biol , vol.17 , pp. 361-369
    • Rossi, A.1    Kaitila, I.2    Wilcox, W.R.3
  • 17
    • 0042817983 scopus 로고    scopus 로고
    • In vitro proteoglycan sulfation derived from sulfhydryl compounds in sulfate transporter chondrodysplasias
    • Rossi A, Cetta A, Piazza R et al 2003 In vitro proteoglycan sulfation derived from sulfhydryl compounds in sulfate transporter chondrodysplasias. Pediatr Pathol Molec Med 22:311-321
    • (2003) Pediatr Pathol Molec Med , vol.22 , pp. 311-321
    • Rossi, A.1    Cetta, A.2    Piazza, R.3
  • 18
    • 0027252639 scopus 로고
    • Identification of a colon mucosa gene that is down-regulated in colon adenomas and adenocarcinomas
    • Schweinfest CW, Henderson KW, Suster S, Kondoh N, Papas TS 1993 Identification of a colon mucosa gene that is down-regulated in colon adenomas and adenocarcinomas. Proc Natl Acad Sci USA 90:4166-4170
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 4166-4170
    • Schweinfest, C.W.1    Henderson, K.W.2    Suster, S.3    Kondoh, N.4    Papas, T.S.5
  • 20
    • 0028030298 scopus 로고
    • A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB
    • Superti-Furga A 1994 A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB. Am J Hum Genet 55:1137-1145
    • (1994) Am J Hum Genet , vol.55 , pp. 1137-1145
    • Superti-Furga, A.1
  • 21
    • 0042351393 scopus 로고    scopus 로고
    • Skeletal dysplasias related to defects in sulfate metabolism
    • Steinmann B, Royce P eds, Wiley-Liss, New York p
    • Superti-Furga A 2002 Skeletal dysplasias related to defects in sulfate metabolism. In: Steinmann B, Royce P (eds) Connective tissue and its heritable disorders. Wiley-Liss, New York p 939-960
    • (2002) Connective tissue and its heritable disorders , pp. 939-960
    • Superti-Furga, A.1
  • 22
    • 13344278021 scopus 로고    scopus 로고
    • Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene
    • Superti-Furga A, Hästbacka J, Wilcox WR et al 1996 Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. Nat Genet 12:100-102
    • (1996) Nat Genet , vol.12 , pp. 100-102
    • Superti-Furga, A.1    Hästbacka, J.2    Wilcox, W.R.3
  • 23
    • 0032810551 scopus 로고    scopus 로고
    • Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation
    • Superti-Furga A, Neumann L, Riebel T et al 1999 Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. J Med Genet 36:621-624
    • (1999) J Med Genet , vol.36 , pp. 621-624
    • Superti-Furga, A.1    Neumann, L.2    Riebel, T.3
  • 24
    • 0037646994 scopus 로고    scopus 로고
    • Molecular and functional characterization of SLC26A11, a sodium-independent sulfate transporter from high endothelial venules
    • Vincourt JB, Jullien D, Amalric F, Girard JP 2003 Molecular and functional characterization of SLC26A11, a sodium-independent sulfate transporter from high endothelial venules. Faseb J 17:890-892
    • (2003) Faseb J , vol.17 , pp. 890-892
    • Vincourt, J.B.1    Jullien, D.2    Amalric, F.3    Girard, J.P.4
  • 25
    • 0035864964 scopus 로고    scopus 로고
    • Cloning and characterization of SLC26A6, a novel member of the solute carrier 26 gene family
    • Waldegger S, Moschen I, Ramirez A et al 2001 Cloning and characterization of SLC26A6, a novel member of the solute carrier 26 gene family. Genomics 72:43-50
    • (2001) Genomics , vol.72 , pp. 43-50
    • Waldegger, S.1    Moschen, I.2    Ramirez, A.3
  • 26
    • 0034636553 scopus 로고    scopus 로고
    • Prestin is the motor protein of cochlear outer hair cells
    • Zheng J, Shen W, He DZ et al 2000 Prestin is the motor protein of cochlear outer hair cells. Nature 405:149-155
    • (2000) Nature , vol.405 , pp. 149-155
    • Zheng, J.1    Shen, W.2    He, D.Z.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.