Tenascin–X deficiency is associated with Ehlers–Danlos syndrome (Q43500561)

24 November 2017

title

Tenascin-X deficiency is associated with Ehlers-Danlos syndrome (English)

1 reference

https://api.crossref.org/works/10.1038/NG0997-104

24 November 2017

Tenascin–X deficiency is associated with Ehlers–Danlos syndrome (English)

1 reference

15 November 2024

main subject

Ehlers-Danlos syndrome

0 references

R. W. Dettman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9288108

15 November 2024

G. H. Burch

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9288108

15 November 2024

Y. Gong

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9288108

15 November 2024

W. Liu

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9288108

15 November 2024

C. J. Curry

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9288108

15 November 2024

L. Smith

1 reference

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15 November 2024

W. L. Miller

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9288108

15 November 2024

J. Bristow

1 reference

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15 November 2024

language of work or name

English

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publication date

1 September 1997

1 reference

24 November 2017

September 1997

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9288108

full work available at URL

15 November 2024

http://www.nature.com/articles/ng0997-104

1 reference

https://api.crossref.org/works/10.1038/NG0997-104

http://www.nature.com/articles/ng0997-104.pdf

15 November 2024

file format

Portable Document Format

1 reference

https://api.crossref.org/works/10.1038/NG0997-104

15 November 2024

1 reference

24 November 2017

1 reference

24 November 2017

1 reference

24 November 2017

page(s)

104-108

1 reference

Tenascin-X: a novel extracellular matrix protein encoded by the human XB gene overlapping P450c21B

24 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNG0997-104

Tenascin: an extracellular matrix protein involved in tissue interactions during fetal development and oncogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0997-104

The chicken neural extracellular matrix molecule restrictin: similarity with EGF-, fibronectin type III-, and fibrinogen-like motifs

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0997-104

Molecular characterization and in situ mRNA localization of the neural recognition molecule J1-160/180: a modular structure similar to tenascin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0997-104

The distribution of tenascin-X is distinct and often reciprocal to that of tenascin-C

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0997-104

Embryonic expression of tenascin-X suggests a role in limb, muscle, and heart development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0997-104

Mechanism and consequences of the duplication of the human C4/P450c21/gene X locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0997-104

Skin wounds and severed nerves heal normally in mice lacking tenascin-C

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0997-104

A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0997-104

Transcript encoded on the opposite strand of the human steroid 21-hydroxylase/complement component C4 gene locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0997-104

7 January 2021

Cluster of fibronectin type III repeats found in the human major histocompatibility complex class III region shows the highest homology with the repeats in an extracellular matrix protein, tenascin

1 reference

https://api.crossref.org/works/10.1038%2FNG0997-104

7 January 2021

A six-armed oligomer isolated from cell surface fibronectin preparations

1 reference

https://api.crossref.org/works/10.1038%2FNG0997-104

7 January 2021

A cDNA clone for cytotactin contains sequences similar to epidermal growth factor-like repeats and segments of fibronectin and fibrinogen

1 reference

https://api.crossref.org/works/10.1038%2FNG0997-104

7 January 2021

Tenascin-C, tenascin-R and tenascin-X: a family of talented proteins in search of functions

1 reference

https://api.crossref.org/works/10.1038%2FNG0997-104

7 January 2021

Distinct tissue distribution in pigs of tenascin-X and tenascin-C transcripts

1 reference

https://api.crossref.org/works/10.1038%2FNG0997-104

7 January 2021

Extracellular matrix protein tenascin-like gene found in human MHC class III region

1 reference

https://api.crossref.org/works/10.1038%2FNG0997-104

7 January 2021

Differential ultrastructural aberrations of collagen fibrils in Ehlers-Danlos syndrome types I-IV as a means of diagnostics and classification

1 reference

https://api.crossref.org/works/10.1038%2FNG0997-104

7 January 2021

Characterization of frequent deletions causing steroid 21-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FNG0997-104

7 January 2021

Genesis by meiotic unequal crossover of a de novo deletion that contributes to steroid 21-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FNG0997-104

7 January 2021

Rearrangements and point mutations of P450c21 genes are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia

1 reference

https://api.crossref.org/works/10.1038%2FNG0997-104

7 January 2021

Mice develop normally without tenascin

1 reference

https://api.crossref.org/works/10.1038%2FNG0997-104

7 January 2021

Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis

1 reference

https://api.crossref.org/works/10.1038%2FNG0997-104

7 January 2021

A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I)

1 reference

https://api.crossref.org/works/10.1038%2FNG0997-104

7 January 2021

A Heritable Disorder of Connective Tissue

1 reference

https://api.crossref.org/works/10.1038%2FNG0997-104

7 January 2021

Identifiers

DOI

10.1038/NG0997-104

1 reference

Dimensions Publication ID

24 November 2017

1039432323

0 references

1 reference