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