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Items: 1 to 20 of 98

1.

Congenital disorders of glycosylation with emphasis on loss of dermatan-4-sulfotransferase.

Zhang L, Müller T, Baenziger JU, Janecke AR.

Prog Mol Biol Transl Sci. 2010;93:289-307. doi: 10.1016/S1877-1173(10)93012-3. Review.

PMID:
20807649
2.

Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.

Dündar M, Müller T, Zhang Q, Pan J, Steinmann B, Vodopiutz J, Gruber R, Sonoda T, Krabichler B, Utermann G, Baenziger JU, Zhang L, Janecke AR.

Am J Hum Genet. 2009 Dec;85(6):873-82. doi: 10.1016/j.ajhg.2009.11.010.

3.

Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency.

Mizumoto S, Kosho T, Hatamochi A, Honda T, Yamaguchi T, Okamoto N, Miyake N, Yamada S, Sugahara K.

Clin Biochem. 2017 Feb 24. pii: S0009-9120(16)30553-7. doi: 10.1016/j.clinbiochem.2017.02.018. [Epub ahead of print]

PMID:
28238810
4.

CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome.

Kosho T.

Pediatr Int. 2016 Feb;58(2):88-99. doi: 10.1111/ped.12878. Review.

PMID:
26646600
5.

Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis.

Syx D, Van Damme T, Symoens S, Maiburg MC, van de Laar I, Morton J, Suri M, Del Campo M, Hausser I, Hermanns-Lê T, De Paepe A, Malfait F.

Hum Mutat. 2015 May;36(5):535-47. doi: 10.1002/humu.22774. Epub 2015 Apr 6. Review.

PMID:
25703627
6.

Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene.

Malfait F, Syx D, Vlummens P, Symoens S, Nampoothiri S, Hermanns-Lê T, Van Laer L, De Paepe A.

Hum Mutat. 2010 Nov;31(11):1233-9. doi: 10.1002/humu.21355.

PMID:
20842734
7.

A response to: loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "dermatan sulfate-deficient Adducted Thumb-Clubfoot Syndrome". Which name is appropriate, "Adducted Thumb-Clubfoot Syndrome" or "Ehlers-Danlos syndrome"?

Kosho T, Miyake N, Mizumoto S, Hatamochi A, Fukushima Y, Yamada S, Sugahara K, Matsumoto N.

Hum Mutat. 2011 Dec;32(12):1507-9. doi: 10.1002/humu.21586. Epub 2011 Sep 30. No abstract available.

PMID:
21964831
9.

Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "dermatan sulfate-deficient adducted thumb-clubfoot syndrome".

Janecke AR, Baenziger JU, Müller T, Dündar M.

Hum Mutat. 2011 Apr;32(4):484-5. doi: 10.1002/humu.21440. No abstract available.

PMID:
21309034
10.

Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: observation of two additional patients and comprehensive review of 20 reported patients.

Shimizu K, Okamoto N, Miyake N, Taira K, Sato Y, Matsuda K, Akimaru N, Ohashi H, Wakui K, Fukushima Y, Matsumoto N, Kosho T.

Am J Med Genet A. 2011 Aug;155A(8):1949-58. doi: 10.1002/ajmg.a.34115. Epub 2011 Jul 8. Review.

PMID:
21744491
11.

Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome.

Müller T, Mizumoto S, Suresh I, Komatsu Y, Vodopiutz J, Dundar M, Straub V, Lingenhel A, Melmer A, Lechner S, Zschocke J, Sugahara K, Janecke AR.

Hum Mol Genet. 2013 Sep 15;22(18):3761-72. doi: 10.1093/hmg/ddt227. Epub 2013 May 23.

PMID:
23704329
12.

Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.

Miyake N, Kosho T, Mizumoto S, Furuichi T, Hatamochi A, Nagashima Y, Arai E, Takahashi K, Kawamura R, Wakui K, Takahashi J, Kato H, Yasui H, Ishida T, Ohashi H, Nishimura G, Shiina M, Saitsu H, Tsurusaki Y, Doi H, Fukushima Y, Ikegawa S, Yamada S, Sugahara K, Matsumoto N.

Hum Mutat. 2010 Aug;31(8):966-74. doi: 10.1002/humu.21300.

PMID:
20533528
13.

Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome.

Winters KA, Jiang Z, Xu W, Li S, Ammous Z, Jayakar P, Wierenga KJ.

Am J Med Genet A. 2012 Nov;158A(11):2935-40. doi: 10.1002/ajmg.a.35613. Epub 2012 Sep 14.

PMID:
22987394
14.

Iduronic acid in chondroitin/dermatan sulfate: biosynthesis and biological function.

Malmström A, Bartolini B, Thelin MA, Pacheco B, Maccarana M.

J Histochem Cytochem. 2012 Dec;60(12):916-25. doi: 10.1369/0022155412459857. Epub 2012 Aug 16. Review.

16.

The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.

Janecke AR, Li B, Boehm M, Krabichler B, Rohrbach M, Müller T, Fuchs I, Golas G, Katagiri Y, Ziegler SG, Gahl WA, Wilnai Y, Zoppi N, Geller HM, Giunta C, Slavotinek A, Steinmann B.

Am J Med Genet A. 2016 Jan;170A(1):103-15. doi: 10.1002/ajmg.a.37383. Epub 2015 Sep 16.

17.

Dermatan 4-O-sulfotransferase 1 is pivotal in the formation of iduronic acid blocks in dermatan sulfate.

Pacheco B, Maccarana M, Malmström A.

Glycobiology. 2009 Nov;19(11):1197-203. doi: 10.1093/glycob/cwp110. Epub 2009 Aug 6.

PMID:
19661164
18.
19.

Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders.

Mizumoto S, Kosho T, Yamada S, Sugahara K.

Pharmaceuticals (Basel). 2017 Mar 27;10(2). pii: E34. doi: 10.3390/ph10020034. Review.

20.

Chondroitin / dermatan sulfate modification enzymes in zebrafish development.

Habicher J, Haitina T, Eriksson I, Holmborn K, Dierker T, Ahlberg PE, Ledin J.

PLoS One. 2015 Mar 20;10(3):e0121957. doi: 10.1371/journal.pone.0121957. eCollection 2015 Mar 20.

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