(Q34138089)

English

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

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

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 (English)

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

0 references

Ehlers-Danlos syndrome

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8

object named as

Anne De Paepe

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Fransiska Malfait

1

object named as

Fransiska Malfait

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Philip Vlummens

object named as

Philip Vlummens

3

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author name string

Delfien Syx

2

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Sofie Symoens

4

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Sheela Nampoothiri

5

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Trinh Hermanns-Lê

6

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Lut Van Laer

7

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

publication date

1 November 2010

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

31

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Europe PubMed Central

PubMed publication ID

31 July 2017

11

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Europe PubMed Central

PubMed publication ID

31 July 2017

1233-1239

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21355

7 January 2021

based on heuristic

inferred from DOI database lookup

Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literature

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21355

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21355

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21355

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular cloning and characterization of a dermatan-specific N-acetylgalactosamine 4-O-sulfotransferase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21355

7 January 2021

based on heuristic

inferred from DOI database lookup

Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21355

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular cloning and expression of two distinct human N-acetylgalactosamine 4-O-sulfotransferases that transfer sulfate to GalNAc beta 1-->4GlcNAc beta 1-->R in both N- and O-glycans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21355

7 January 2021

based on heuristic

inferred from DOI database lookup

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.21355

7 January 2021

based on heuristic

inferred from DOI database lookup

Biosynthesis of dermatan sulfate: chondroitin-glucuronate C5-epimerase is identical to SART2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21355

7 January 2021

based on heuristic

inferred from DOI database lookup

Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21355

7 January 2021

based on heuristic

inferred from DOI database lookup

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.21355

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21355

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical, ultrastructural and biochemical studies in two sibs with Ehlers-Danlos syndrome type VI-B-like features

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21355

7 January 2021

based on heuristic

inferred from DOI database lookup

Two dermatan sulfate epimerases form iduronic acid domains in dermatan sulfate.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21355

7 January 2021

based on heuristic

inferred from DOI database lookup

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.21355

7 January 2021

based on heuristic

inferred from DOI database lookup

A Heritable Disorder of Connective Tissue

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21355

7 January 2021

based on heuristic

inferred from DOI database lookup

A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21355

7 January 2021

based on heuristic

inferred from DOI database lookup

A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21355

7 January 2021

based on heuristic

inferred from DOI database lookup

Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21355

7 January 2021

based on heuristic

inferred from DOI database lookup

Dermatan sulfate: new functions from an old glycosaminoglycan

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21355

7 January 2021

based on heuristic

inferred from DOI database lookup

Heterogeneous basis of the type VIB form of Ehlers-Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21355

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21355

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.21355

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

ResearchGate publication ID

0 references

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