| 1 | 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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| 2 | 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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| 3 | 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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| 4 | 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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| 5 | 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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| 6 | 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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| 7 | 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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| 8 | 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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| 9 | 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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| 10 | ACG1B, DTD
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| A chondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.
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| Superti-Furga A, et al.
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| Nat Genet 12 : 100-102. 1996
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| 11 | 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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| 12 | DTD
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| Abnormality of type IX collagen in a patient with diastrophic dysplasia.
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| Diab M, et al.
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| Am J Med Genet 49 : 402-409. 1994
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| 13 | 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
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| 14 | DTD
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| Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers.
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| HŠstbacka J, et al.
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| J Med Genet 30 : 265-268. 1993
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| 15 | DTD, CSF1R
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| Linkage disequilibrium mapping in isolated founder populations : diastrophic dysplasia in Finland.
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| HŠstbacka J, et al.
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| Nat Genet 2 : 204-211. 1992
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| 16 | DTD
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| A linkage map spanning the locus for diastrophic dysplasia (DTD).
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| HŠstbacka J, et al.
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| Genomics 11 : 968-973. 1991
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| 17 | DTD
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| Diastrophic dysplasia gene maps to the distal long arm of chromosome 5.
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| HŠstbacka J, et al.
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| Proc Natl Acad Sci U S A 87 : 8056-8059. 1990
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