scholarly journals Disorder of Biosynthesis of Dermatan Sulfate Causes a New Type of Ehlers-Danlos Syndrome

2011 ◽  
Vol 23 (132) ◽  
pp. 197-199
Author(s):  
Shuji Mizumoto
Keyword(s):  
Dermatan Sulfate ◽  
Ehlers Danlos Syndrome ◽  
New Type ◽  
Danlos Syndrome

scholarly journals Delineation of musculocontractural Ehlers–Danlos Syndrome caused by dermatan sulfate epimerase deficiency

2020 ◽  
Vol 8 (5) ◽  
Author(s):  
Charlotte K. Lautrup ◽  
Keng W. Teik ◽  
Ai Unzaki ◽  
Shuji Mizumoto ◽  
Delfien Syx ◽  
...  
Keyword(s):  
Dermatan Sulfate ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

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

2010 ◽  
Vol 31 (8) ◽  
pp. 966-974 ◽  
Author(s):  
Noriko Miyake ◽  
Tomoki Kosho ◽  
Shuji Mizumoto ◽  
Tatsuya Furuichi ◽  
Atsushi Hatamochi ◽  
...  
Keyword(s):  
Loss Of Function ◽  
Ehlers Danlos Syndrome ◽  
New Type ◽  
Danlos Syndrome

Genetic Heterogeneity and Clinical Variability in Musculocontractural Ehlers-Danlos Syndrome Caused by Impaired Dermatan Sulfate Biosynthesis

2015 ◽  
Vol 36 (5) ◽  
pp. 535-547 ◽  
Author(s):  
Delfien Syx ◽  
Tim Van Damme ◽  
Sofie Symoens ◽  
Merel C. Maiburg ◽  
Ingrid van de Laar ◽  
...  
Keyword(s):  
Genetic Heterogeneity ◽  
Dermatan Sulfate ◽  
Ehlers Danlos Syndrome ◽  
Clinical Variability ◽  
Danlos Syndrome

A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries?

2007 ◽  
Vol 92 (10) ◽  
pp. 1230-1230
Author(s):  
P Franceschini ◽  
A Guala ◽  
D Licata ◽  
GG Cara ◽  
D Franceschini
Keyword(s):  
Ehlers Danlos Syndrome ◽  
New Type ◽  
Systemic Arteries ◽  
Danlos Syndrome

A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar

2007 ◽  
Vol 92 (4) ◽  
pp. 456-462 ◽  
Author(s):  
A Abdul Wahab ◽  
IA Janahi ◽  
A Eltohami ◽  
A Zeid ◽  
NF Ul Haque ◽  
...  
Keyword(s):  
Ehlers Danlos Syndrome ◽  
New Type ◽  
Systemic Arteries ◽  
Danlos Syndrome

scholarly journals Gene Defect of Dermatan Sulfate Proteoglycan of Cattle Affected With a Variant Form of Ehlers-Danlos Syndrome

1999 ◽  
Vol 13 (3) ◽  
pp. 202-205 ◽  
Author(s):  
Motoshi Tajima ◽  
Sachiko Miyake ◽  
Kazushige Takehana ◽  
Ataru Kobayashi ◽  
Osamu Yamato ◽  
...  
Keyword(s):  
Dermatan Sulfate ◽  
Variant Form ◽  
Sulfate Proteoglycan ◽  
Gene Defect ◽  
Ehlers Danlos Syndrome ◽  
Dermatan Sulfate Proteoglycan ◽  
Danlos Syndrome

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

2017 ◽  
Vol 50 (12) ◽  
pp. 670-677 ◽  
Author(s):  
Shuji Mizumoto ◽  
Tomoki Kosho ◽  
Atsushi Hatamochi ◽  
Tomoko Honda ◽  
Tomomi Yamaguchi ◽  
...  
Keyword(s):  
Dermatan Sulfate ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar Reply

2007 ◽  
Vol 92 (10) ◽  
pp. 1230-1230
Author(s):  
P Franceschini ◽  
A Guala ◽  
D Licata ◽  
GG Cara ◽  
D Franceschini
Keyword(s):  
Ehlers Danlos Syndrome ◽  
New Type ◽  
Systemic Arteries ◽  
Danlos Syndrome

Systematic investigation of the skin in Chst14−/− mice: A model for skin fragility in musculocontractural Ehlers–Danlos syndrome caused by CHST14 variants (mcEDS-CHST14)

Glycobiology ◽  
2020 ◽  
Author(s):  
Takuya Hirose ◽  
Shuji Mizumoto ◽  
Ayana Hashimoto ◽  
Yuki Takahashi ◽  
Takahiro Yoshizawa ◽  
...  
Keyword(s):  
Chondroitin Sulfate ◽  
Anion Exchange ◽  
Dermatan Sulfate ◽  
Systematic Investigation ◽  
Exchange Chromatography ◽  
Collagen Fibrils ◽  
Loss Of Function ◽  
Ehlers Danlos Syndrome ◽  
Skin Fragility ◽  
Danlos Syndrome

Abstract Loss-of-function variants in CHST14 cause a dermatan 4-O-sulfotransferase deficiency named musculocontractural Ehlers–Danlos syndrome-CHST14 (mcEDS-CHST14), resulting in complete depletion of the dermatan sulfate moiety of decorin glycosaminoglycan (GAG) chains, which is replaced by chondroitin sulfate. Recently, we uncovered structural alteration of GAG chains in the skin of patients with mcEDS-CHST14. Here, we conducted the first systematic investigation of Chst14 gene-deleted homozygote (Chst14−/−) mice. We used skin samples of wild-type (Chst14+/+) and Chst14−/− mice. Mechanical fragility of the skin was measured with a tensile test. Pathology was observed using light microscopy, decorin immunohistochemistry and electron microscopy (EM) including cupromeronic blue (CB) staining. Quantification of chondroitin sulfate and dermatan sulfate was performed using enzymatic digestion followed by anion-exchange HPLC. In Chst14−/− mice, skin tensile strength was significantly decreased compared with that in Chst14+/+ mice. EM showed that collagen fibrils were oriented in various directions to form disorganized collagen fibers in the reticular layer. Through EM-based CB staining, rod-shaped linear GAG chains were found to be attached at one end to collagen fibrils and protruded outside of the fibrils, in contrast to them being round and wrapping the collagen fibrils in Chst14+/+ mice. A very low level of dermatan sulfate disaccharides was detected in the skin of Chst14−/− mice by anion-exchange chromatography. Chst14−/− mice, exhibiting similar abnormalities in the GAG structure of decorin and collagen networks in the skin, could be a reasonable model for skin fragility of patients with mcEDS-CHST14, shedding light on the role of dermatan sulfate in maintaining skin strength.

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