Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia (Q36589415)

15 August 2017

Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia (English)

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15 August 2017

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Ehlers-Danlos syndrome

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11

Andrew E Arai

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15 August 2017

Deborah P Merke

1

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15 August 2017

Wuyan Chen

2

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15 August 2017

Rachel Morissette

3

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15 August 2017

Zhi Xu

4

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15 August 2017

Carol Van Ryzin

5

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15 August 2017

Vandana Sachdev

6

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15 August 2017

Hwaida Hannoush

7

1 reference

15 August 2017

Sujata M Shanbhag

8

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15 August 2017

Ana T Acevedo

9

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15 August 2017

Miki Nishitani

10

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15 August 2017

Nazli B McDonnell

12

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15 August 2017

language of work or name

English

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publication date

2 January 2013

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The Journal of Clinical Endocrinology and Metabolism

15 August 2017

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15 August 2017

98

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15 August 2017

E379-87

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15 August 2017

2

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describes a project that uses

15 August 2017

ImageJ

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11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3565116/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565116

Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline

9 September 2017

1 reference

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Health status of adults with congenital adrenal hyperplasia: a cohort study of 203 patients

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565116

Tenascin-X deficiency and Ehlers-Danlos syndrome: a case report and review of the literature

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565116

Neuromuscular involvement in various types of Ehlers-Danlos syndrome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565116

Analysis of obstetric complications and uterine connective tissue in tenascin-X-deficient humans and mice

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565116

Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome

9 September 2017

1 reference

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Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition

9 September 2017

1 reference

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

9 September 2017

1 reference

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The Ehlers-Danlos syndrome: on beyond collagens

9 September 2017

1 reference

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Modular variations of the human major histocompatibility complex class III genes for serine/threonine kinase RP, complement component C4, steroid 21-hydroxylase CYP21, and tenascin TNX (the RCCX module). A mechanism for gene deletions and disease as

9 September 2017

1 reference

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Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).

9 September 2017

1 reference

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High frequency of nonclassical steroid 21-hydroxylase deficiency

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565116

Ehlers Danlos syndrome and osteoporosis

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565116

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565116

Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565116

Characterization of frequent deletions causing steroid 21-hydroxylase deficiency

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565116

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565116

Early aldosterone-regulated genes in cardiomyocytes: clues to cardiac remodeling?

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565116

Localization and analysis of the principal promoter for human tenascin-X.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565116

Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565116

Tenascin-X deficiency is associated with Ehlers-Danlos syndrome

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565116

The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: quadricuspid aortic valve and other midline defects.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565116

Clinical and echocardiographic survey of the Ehlers-Danlos syndrome

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565116

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565116

Elastic fiber abnormalities in hypermobility type Ehlers-Danlos syndrome patients with tenascin-X mutations

20 September 2018

1 reference

12 December 2020

Tenascin-X deficiency in autosomal recessive Ehlers-Danlos syndrome

1 reference

12 December 2020

Congenital adrenal hyperplasia

1 reference

12 December 2020

Echocardiographic findings in classical and hypermobile Ehlers-Danlos syndromes

1 reference

12 December 2020

Collagen XII interacts with avian tenascin-X through its NC3 domain

1 reference

12 December 2020

Ehlers-Danlos syndrome due to tenascin-X deficiency: muscle weakness and contractures support overlap with collagen VI myopathies

1 reference

12 December 2020

Trachea rupture in tenascin-X-deficient type Ehlers-Danlos syndrome

1 reference

12 December 2020

Well-defined clinical presentation of Ehlers-Danlos syndrome in patients with tenascin-X deficiency: a report of four cases

1 reference

12 December 2020

The revised (Brighton 1998) criteria for the diagnosis of benign joint hypermobility syndrome (BJHS)

1 reference

12 December 2020

Recommendations for evaluation of the severity of native valvular regurgitation with two-dimensional and doppler echocardiography

1 reference

12 December 2020

A clinical and cardiovascular survey of Ehlers-Danlos syndrome patients with complete deficiency of tenascin-X

1 reference

12 December 2020

Identifiers

DOI

10.1210/JC.2012-3148

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15 August 2017

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15 August 2017

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