Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome. (Q34119769)

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5 February 2020

title

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

1 reference

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5 February 2020

main subject

Ehlers-Danlos syndrome

0 references

author

Shuji Mizumoto

3

1 reference

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5 February 2020

Hirotomo Saitsu

18

1 reference

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5 February 2020

Yoshinori Tsurusaki

19

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5 February 2020

16

Gen Nishimura

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5 February 2020

22

Shiro Ikegawa

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5 February 2020

1

Noriko Miyake

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5 February 2020

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Tatsuya Furuichi

4

object named as

Tatsuya Furuichi

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5 February 2020

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author name string

Tomoki Kosho

2

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5 February 2020

Atsushi Hatamochi

5

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5 February 2020

Yoji Nagashima

6

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5 February 2020

Eiichi Arai

7

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5 February 2020

Kazuo Takahashi

8

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5 February 2020

Rie Kawamura

9

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5 February 2020

Keiko Wakui

10

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5 February 2020

Jun Takahashi

11

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5 February 2020

Hiroyuki Kato

12

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5 February 2020

Hiroshi Yasui

13

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5 February 2020

Tadao Ishida

14

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5 February 2020

Hirofumi Ohashi

15

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5 February 2020

Masaaki Shiina

17

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5 February 2020

Hiroshi Doi

20

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5 February 2020

Yoshimitsu Fukushima

21

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5 February 2020

Shuhei Yamada

23

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5 February 2020

Kazuyuki Sugahara

24

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5 February 2020

Naomichi Matsumoto

25

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5 February 2020

publication date

1 August 2010

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5 February 2020

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5 February 2020

volume

31

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5 February 2020

issue

8

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5 February 2020

page(s)

966-974

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A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations.

5 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21300

Conformational flexibility: a new concept for explaining binding and biological properties of iduronic acid-containing glycosaminoglycans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21300

7 January 2021

Interactions of hepatocyte growth factor/scatter factor with various glycosaminoglycans reveal an important interplay between the presence of iduronate and sulfate density.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21300

7 January 2021

Targeted disruption of decorin leads to abnormal collagen fibril morphology and skin fragility

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21300

7 January 2021

A case with adducted thumb and club foot syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21300

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21300

7 January 2021

Amino Acid Composition and Physicochemical Characterization of Chondroitinase from Arthrobacter aurescens

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21300

7 January 2021

Leucine-rich repeat glycoproteins of the extracellular matrix

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21300

7 January 2021

Adducted thumb-club foot syndrome in sibs of a consanguineous Austrian family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21300

7 January 2021

Microanalysis of glycosaminoglycan-derived oligosaccharides labeled with a fluorophore 2-aminobenzamide by high-performance liquid chromatography: application to disaccharide composition analysis and exosequencing of oligosaccharides

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21300

7 January 2021

Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21300

7 January 2021

CS lyases: structure, activity, and applications in analysis and the treatment of diseases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21300

7 January 2021

The Ehlers-Danlos syndrome: on beyond collagens

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21300

7 January 2021

Isolation and partial characterization of an induced chondroitinase B from Flavobacterium heparinum

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21300

7 January 2021

Specificities of three distinct human chondroitin/dermatan N-acetylgalactosamine 4-O-sulfotransferases demonstrated using partially desulfated dermatan sulfate as an acceptor: implication of differential roles in dermatan sulfate biosynthesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21300

7 January 2021

Dermatan sulfate released after injury is a potent promoter of fibroblast growth factor-2 function.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21300

7 January 2021

Proteodermatan and proteokeratan sulfate (decorin, lumican/fibromodulin) proteins are horseshoe shaped. Implications for their interactions with collagen

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21300

7 January 2021

Elasticity in extracellular matrix 'shape modules' of tendon, cartilage, etc. A sliding proteoglycan-filament model

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21300

7 January 2021

Two brothers with distal arthrogryposis, peculiar facial appearance, cleft palate, short stature, hydronephrosis, retentio testis, and normal intelligence: a new type of distal arthrogryposis?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21300

7 January 2021

Chondroitin/dermatan sulfate in the central nervous system

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21300

7 January 2021

Regulation of the chondroitin/dermatan fine structure by transforming growth factor-beta1 through effects on polymer-modifying enzymes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21300

7 January 2021

Chondroitin 4-O-sulfotransferase-1 regulates E disaccharide expression of chondroitin sulfate required for herpes simplex virus infectivity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21300

7 January 2021

Ehlers-Danlos syndrome type VI: clinical manifestations of collagen lysyl hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21300

7 January 2021

Negative regulation of transforming growth factor-beta by the proteoglycan decorin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21300

7 January 2021

Combination therapy of DDAVP and conjugated estrogens for a recurrent large subcutaneous hematoma in Ehlers-Danlos syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21300

7 January 2021

Human Smad3 and Smad4 are sequence-specific transcription activators

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21300

7 January 2021