Mutational analysis of 12 patients with the phenotype of Ehlers-Danlos syndrome type VIB shows no linkage to the zinc transporter gene SLC39A13. (Q55136708)

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scientific article published on 7 July 2011

Language	Label	Description	Also known as
English	Mutational analysis of 12 patients with the phenotype of Ehlers-Danlos syndrome type VIB shows no linkage to the zinc transporter gene SLC39A13.	scientific article published on 7 July 2011

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

22 June 2018

http://europepmc.org/abstract/PMC/3140580

Mutational analysis of 12 patients with the phenotype of Ehlers-Danlos syndrome type VIB shows no linkage to the zinc transporter gene SLC39A13. (English)

1 reference

Europe PubMed Central

PMC publication ID

22 June 2018

http://europepmc.org/abstract/PMC/3140580

Ehlers-Danlos syndrome

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mutational analysis

1 reference

based on heuristic

inferred from title

Ehlers-Danlos syndrome, musculocontractural type

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based on heuristic

inferred from title

author name string

Linda C Walker

1

1 reference

Europe PubMed Central

PMC publication ID

22 June 2018

http://europepmc.org/abstract/PMC/3140580

Elizabeth M Ju

2

1 reference

Europe PubMed Central

PMC publication ID

22 June 2018

http://europepmc.org/abstract/PMC/3140580

Heather N Yeowell

3

1 reference

Europe PubMed Central

PMC publication ID

22 June 2018

http://europepmc.org/abstract/PMC/3140580

language of work or name

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publication date

7 July 2011

1 reference

Europe PubMed Central

PMC publication ID

22 June 2018

http://europepmc.org/abstract/PMC/3140580

American Journal of Medical Genetics

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Europe PubMed Central

PMC publication ID

22 June 2018

http://europepmc.org/abstract/PMC/3140580

155A

1 reference

Europe PubMed Central

PMC publication ID

22 June 2018

http://europepmc.org/abstract/PMC/3140580

8

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Europe PubMed Central

PMC publication ID

22 June 2018

http://europepmc.org/abstract/PMC/3140580

2011-2014

1 reference

Europe PubMed Central

PMC publication ID

22 June 2018

http://europepmc.org/abstract/PMC/3140580

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140580

24 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140580

24 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140580

24 June 2018

The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140580

24 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140580

24 June 2018

Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140580

24 June 2018

The human genome browser at UCSC

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140580

24 June 2018

BLAT—The BLAST-Like Alignment Tool

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140580

24 June 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140580

24 June 2018

Tissue specificity of a new splice form of the human lysyl hydroxylase 2 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140580

24 June 2018

Cloning and characterization of a third human lysyl hydroxylase isoform

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140580

24 June 2018

Primary structure, tissue distribution, and chromosomal localization of a novel isoform of lysyl hydroxylase (lysyl hydroxylase 3)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140580

24 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140580

24 June 2018

Cloning and characterization of a novel human lysyl hydroxylase isoform highly expressed in pancreas and muscle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140580

24 June 2018

The Ehlers-Danlos syndromes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140580

24 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140580

13 August 2018

Serum stimulation of lysyl hydroxylase activity in cultured human skin fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/21739577

12 December 2020

based on heuristic

inferred from PubMed ID 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://pubmed.ncbi.nlm.nih.gov/21739577

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/AJMG.A.34064

1 reference

Europe PubMed Central

PMC publication ID

22 June 2018

http://europepmc.org/abstract/PMC/3140580

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

22 June 2018

http://europepmc.org/abstract/PMC/3140580

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

22 June 2018

http://europepmc.org/abstract/PMC/3140580

ResearchGate publication ID

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