-
1
-
-
0033953284
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
-
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
-
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
-
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
-
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
-
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
-
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
-
19
-
-
0032901865
-
The Pendred syndrome gene encodes a chloride-iodide transport protein
-
Scott DA, Wang R, Kreman TM, Sheffield VC, Karnishki LP 1999 The Pendred syndrome gene encodes a chloride-iodide transport protein. Nat Genet 21:440-443
-
(1999)
Nat Genet
, vol.21
, pp. 440-443
-
-
Scott, D.A.1
Wang, R.2
Kreman, T.M.3
Sheffield, V.C.4
Karnishki, L.P.5
-
20
-
-
0028030298
-
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
-
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
-
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
-
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
-
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
-
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
-
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
|