Citations for
1SLC26A2
Multiple Roles of the SOFormula/Cl-/OH- Exchanger Protein Slc26a2 in Chondrocyte Functions.
Park M, Ohana E, Choi SY, Lee MS, Park JH, Muallem S.
J Biol Chem 289(4):1993-2001. doi: 10.1074/jbc.M113.503466. Epub 2013 Dec 3. 2014
2EDM4, SLC26A2
Recessive MED with auricular swelling due to compound heterozygosity Arg279Tpr/Thr512Lys in the SLC26A2 gene.
Syvänen J, Helenius I, Hero M, Mäkitie O, Ignatius J.
Am J Med Genet A 161A(6):1491-4. doi: 10.1002/ajmg.a.35872. Epub 2013 Apr 23. No abstract available. 2013
3SLC13A4, SLC26A2
Human placental sulfate transporter mRNA profiling from term pregnancies identifies abundant SLC13A4 in syncytiotrophoblasts and SLC26A2 in cytotrophoblasts.
Simmons DG, Rakoczy J, Jefferis J, Lourie R, McIntyre HD, Dawson PA.
Placenta 34(4):381-4. doi: 10.1016/j.placenta.2013.01.017. Epub 2013 Feb 28. 2013
4DTD, SLC26A2
Alteration of proteoglycan sulfation affects bone growth and remodeling.
Gualeni B, de Vernejoul MC, Marty-Morieux C, De Leonardis F, Franchi M, Monti L, Forlino A, Houillier P, Rossi A, Geoffroy V.
Bone 54(1):83-91. doi: 10.1016/j.bone.2013.01.036. Epub 2013 Jan 28. 2013
5SLC25A1, SLC26A2, SLC26A4, SLS26A3
The SLC26 gene family of anion transporters and channels.
Alper SL, Sharma AK.
Mol Aspects Med 34(2-3):494-515. doi: 10.1016/j.mam.2012.07.009. Review. 2013
6DTD, SLC26A2
Matrix disruptions, growth, and degradation of cartilage with impaired sulfation.
Mertz EL, Facchini M, Pham AT, Gualeni B, De Leonardis F, Rossi A, Forlino A.
J Biol Chem 287(26):22030-42. doi: 10.1074/jbc.M110.116467. Epub 2012 May 3. 2012
7SLC26A2
Solute carrier family 26 member a2 (Slc26a2) protein functions as an electroneutral SOFormula/OH-/Cl- exchanger regulated by extracellular Cl-.
Ohana E, Shcheynikov N, Park M, Muallem S.
J Biol Chem 287(7):5122-32. doi: 10.1074/jbc.M111.297192. Epub 2011 Dec 21. 2012
8DTD, SLC26A2
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.
Barbosa M, Sousa AB, Medeira A, Lourenço T, Saraiva J, Pinto-Basto J, Soares G, Fortuna AM, Superti-Furga A, Mittaz L, Reis-Lima M, Bonafé L.
Clin Genet 80(6):550-7. doi: 10.1111/j.1399-0004.2010.01595.x. Epub 2010 Dec 13. 2011
9SLC26A2
Protein localization of SLC26A2 (DTDST) in rat kidney.
Chapman JM, Karniski LP.
Histochem Cell Biol 133(5):541-7. doi: 10.1007/s00418-010-0694-x. Epub 2010 Apr 6. 2010
10SLC26A2
Regulated transport of sulfate and oxalate by SLC26A2/DTDST.
Heneghan JF, Akhavein A, Salas MJ, Shmukler BE, Karniski LP, Vandorpe DH, Alper SL.
Am J Physiol Cell Physiol 298(6):C1363-75. doi: 10.1152/ajpcell.00004.2010. Epub 2010 Mar 10. Erratum in: Am J Physiol Cell Physiol. 2011 Feb;300(2):C383. 2010
11PSACH, COMP, SLC26A2, EDM4
Multilayered patella: similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia.
Vatanavicharn N, Lachman RS, Rimoin DL.
Am J Med Genet A 146A(13):1682-6. 2008
12DTD, SLC26A2
A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST.
Panzer KM, Lachman R, Modaff P, Pauli RM.
Am J Med Genet A 146A(22):2920-4. 2008
13ATSG2, SLC26A2
A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia.
Bonafé L, Hästbacka J, de la Chapelle A, Campos-Xavier AB, Chiesa C, Forlino A, Superti-Furga A, Rossi A.
J Med Genet 45(12):827-31. Epub 2008 Aug 15. 2008
14SLC26A1, SLC26A10, SLC26A11, SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC26A6, SLC26A7, SLC26A8, SLC26A9
Renal physiology of SLC26 anion exchangers.
Sindiæ A, Chang MH, Mount DB, Romero MF.
Curr Opin Nephrol Hypertens 16(5):484-90. Review. 2007
15SLC26A2, SLC26A6, SLC26A7, SLC26A8
Expression of ion transport-associated proteins in human efferent and epididymal ducts.
Kujala M, Hihnala S, Tienari J, Kaunisto K, Hästbacka J, Holmberg C, Kere J, Höglund P.
Reproduction 133(4):775-84. 2007
16ATSG2, SLC26A2
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 140(11):1143-7. 2006
17SLC26A1, SLC26A10, SLC26A11, SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC26A6, SLC26A7, SLC26A8, SLC26A9
SLC26 chloride/base exchangers in the kidney in health and disease.
Soleimani M, Xu J.
Semin Nephrol 26(5):375-85. Review. 2006
18SLC26A2, DTD
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, Bonafe L, Gualeni B, Romano A, Pecora F, Superti-Furga A, Cetta G, Rossi A.
Hum Mol Genet 14(6):859-71. Epub 2005 Feb 9. 2005
19ATSG2, SLC26A2, DTD
Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation.
Macias-Gomez NM, Megarbane A, Leal-Ugarte E, Rodriguez-Rojas LX, Barros-Nunez P.
Am J Med Genet 129A(2):190-2. 2004
20SLC26A2, ACG1B, ATSG2, DTD, EDM4, CD36
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells.
Karniski LP.
Hum Mol Genet 13(19):2165-71. Epub 2004 Aug 04. 2004
21SLC26A2
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.
Ballhausen D, Bonafe L, Terhal P, Unger SL, Bellus G, Classen M, Hamel BC, Spranger J, Zabel B, Cohn DH, Cole WG, Hecht JT, Superti-Furga A.
J Med Genet 40(1):65-71. No abstract available. 2003
22SLC26A2, EDM4
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.
Makitie O, Savarirayan R, Bonafe L, Robertson S, Susic M, Superti-Furga A, Cole WG.
Am J Med Genet 122A(3):187-92. 2003
23COL9A1, COL9A2, COL9A3, COMP, EDM1, EDM2, EDM3, EDM5, EDM6, MATN3, PSACH, SLC26A2
Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations.
Briggs MD, Chapman KL.
Hum Mutat 19(5):465-78. Review. 2002
24SLC26A2
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 17(3):159-71. 2001
25EDM4, SLC26A2
Sulphate transporter gene mutations in apparently isolated club foot.
Huber C, Odent S, Rumeur S, Padovani P, Penet C, Cormier-Daire V, Munnich A, Le Merrer M.
J Med Genet 38(3):191-3. No abstract available. 2001
26PAPSS2, SLC26A2
Identification of sequence polymorphisms in two sulfation-related genes, PAPSS2 and SLC26A2, and an association analysis with knee osteoarthritis.
Ikeda T, Mabuchi A, Fukuda A, Hiraoka H, Kawakami A, Yamamoto S, Machida H, Takatori Y, Kawaguchi H, Nakamura K, Ikegawa S.
J Hum Genet 46(9):538-43. 2001
27SLC26A4, SLC26A2, SLC26A3
The STAS domain - a link between anion transporters and antisigma-factor antagonists.
Aravind L, Koonin EV.
Curr Biol 10(2):R53-5. No abstract available. 2000
28DTD, SLC26A2
Identification of the Finnish founder mutation for diastrophic dysplasia.
Hastbacka J, et al.
Eur J Hum Genet 7(6):664-70 1999
29EDM4, SLC26A2
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, Eich G, Steinmann B, Spranger J, Kunze J.
J Med Genet 36(8):621-4. 1999
30SLC26A2
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, et al.
Matrix Biol 17(5):361-9 1998
31DTD, SLC26A2
Functional analysis of diastrophic dysplasia sulfate transporter. Its involvement in growth regulation of chondrocytes mediated by sulfated proteoglycans.
Satoh H, et al.
J Biol Chem 273(20):12307-15 1998
32SLC26A2, ATSG2
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST) : evidence for a phenotypic series involving three chondrodysplasias.
HŠstbacka J, et al.
Am J Hum Genet 58 : 255-262. 1996
33ACG1B, SLC26A2
A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene : genotype/phenotype correlations.
Superti-Furga A, et al.
Am J Med Genet 63 : 144-147. 1996
34ATSG2, DTD, SLC26A2
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia.
Rossi A, et al.
Hum Genet 98 : 657-661. 1996
35DTD, SLC26A2, SLC26A3
The diastrophic dysplasia gene encodes a novel sulfate transporter : positional cloning by fine-structure linkage disequilibrium mapping.
HŠstbacka J, et al.
Cell 78 : 1073-1087. 1994