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Page 1
Sulphate in pregnancy.
Dawson PA, Elliott A, Bowling FG. Dawson PA, et al. Nutrients. 2015 Mar 4;7(3):1594-606. doi: 10.3390/nu7031594. Nutrients. 2015. PMID: 25746011 Free PMC article. Review.
In humans, reduced sulphonation capacity has been linked to skeletal dysplasias, ranging from the mildest form, multiple epiphyseal dysplasia, to achondrogenesis Type IB, which results in severe skeletal underdevelopment and death in utero or shortly after bi …
In humans, reduced sulphonation capacity has been linked to skeletal dysplasias, ranging from the mildest form, multiple epiphyseal dysplasi …
Sulfate in fetal development.
Dawson PA. Dawson PA. Semin Cell Dev Biol. 2011 Aug;22(6):653-9. doi: 10.1016/j.semcdb.2011.03.004. Epub 2011 Mar 17. Semin Cell Dev Biol. 2011. PMID: 21419855 Review.
In addition, sulfonation of proteoglycans is important for maintaining normal structure and development of tissues, as shown for reduced sulfonation of cartilage proteoglycans that leads to developmental dwarfism disorders and four different osteochondrodysplasias (diastrophic dy …
In addition, sulfonation of proteoglycans is important for maintaining normal structure and development of tissues, as shown for reduced sul …
Achondrogenesis type 1B.
Superti-Furga A. Superti-Furga A. J Med Genet. 1996 Nov;33(11):957-61. doi: 10.1136/jmg.33.11.957. J Med Genet. 1996. PMID: 8950678 Free PMC article. Review. No abstract available.
Pathogenetics of the human SLC26 transporters.
Dawson PA, Markovich D. Dawson PA, et al. Curr Med Chem. 2005;12(4):385-96. doi: 10.2174/0929867053363144. Curr Med Chem. 2005. PMID: 15720248 Review.
Special interest has focused on four members of the SLC26 family that are associated with distinct recessive diseases: (i) Mutations in SLC26A2 lead to four different chondrodysplasias (diastrophic dysplasia, atelosteogenesis type II, achondrogenesis type IB
Special interest has focused on four members of the SLC26 family that are associated with distinct recessive diseases: (i) Mutations in SLC2 …
Atelosteogenesis syndromes: a review, with comments on their pathogenesis.
Sillence D, Worthington S, Dixon J, Osborn R, Kozlowski K. Sillence D, et al. Pediatr Radiol. 1997 May;27(5):388-96. doi: 10.1007/s002470050154. Pediatr Radiol. 1997. PMID: 9133349 Review.
An overlap of phenotypic, radiographic, morphological, and cartilage histochemical features with those observed in diastrophic dysplasia and achondrogenesis type IB suggests that atelosteogenesis type II has common pathogenetic features with disorders of sulf …
An overlap of phenotypic, radiographic, morphological, and cartilage histochemical features with those observed in diastrophic dysplasia and …
A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations.
Superti-Furga A, Rossi A, Steinmann B, Gitzelmann R. Superti-Furga A, et al. Am J Med Genet. 1996 May 3;63(1):144-7. doi: 10.1002/(SICI)1096-8628(19960503)63:1<144::AID-AJMG25>3.0.CO;2-N. Am J Med Genet. 1996. PMID: 8723100 Review.
Achondrogenesis type 1B (ACG-1B), atelosteogenesis type 2 (AO-2), and diastrophic dysplasia (DTD) are recessively inherited chondrodysplasias of decreasing severity caused by mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene on chromosom
Achondrogenesis type 1B (ACG-1B), atelosteogenesis type 2 (AO-2), and diastrophic dysplasia (DTD) are recessively inher
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.
Dwyer E, Hyland J, Modaff P, Pauli RM. Dwyer E, et al. Am J Med Genet A. 2010 Dec;152A(12):3043-50. doi: 10.1002/ajmg.a.33736. Am J Med Genet A. 2010. PMID: 21077202 Review.
In decreasing order of severity, they include processes designated as achondrogenesis type IB (ACG-1B), atelosteogenesis type II (AO2), diastrophic dysplasia (DTD), diastrophic dysplasia variant (DTDv), and recessively inherited multiple epiphyseal dysplasia …
In decreasing order of severity, they include processes designated as achondrogenesis type IB (ACG-1B), atelosteogenesi …