(Q24311790)

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Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16571645%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16571645%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

0 references

Xylosyltransferase 1

1 reference

GOA release 2020-03-11

4

1 reference

Europe PubMed Central

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18 January 2020

author name string

S Schön

1

1 reference

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18 January 2020

V Schulz

2

1 reference

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18 January 2020

C Prante

3

1 reference

Europe PubMed Central

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18 January 2020

C Szliska

5

1 reference

Europe PubMed Central

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18 January 2020

J Kuhn

6

1 reference

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18 January 2020

K Kleesiek

7

1 reference

Europe PubMed Central

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18 January 2020

C Götting

8

1 reference

Europe PubMed Central

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18 January 2020

language of work or name

0 references

publication date

29 March 2006

1 reference

Europe PubMed Central

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18 January 2020

Journal of Medical Genetics

1 reference

Europe PubMed Central

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18 January 2020

43

1 reference

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18 January 2020

9

1 reference

Europe PubMed Central

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18 January 2020

745-749

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16571645%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Human xylosyltransferase I: functional and biochemical characterization of cysteine residues required for enzymic activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593031

19 March 2017

Molecular cloning and expression of human UDP-d-Xylose:proteoglycan core protein beta-d-xylosyltransferase and its first isoform XT-II

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593031

19 March 2017

Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593031

19 March 2017

Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593031

19 March 2017

Novel mutations in the ABCC6 gene of German patients with pseudoxanthoma elasticum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593031

19 March 2017

Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593031

19 March 2017

Mutations in ABCC6 cause pseudoxanthoma elasticum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593031

19 March 2017

Impact of polymorphisms in the genes encoding xylosyltransferase I and a homologue in type 1 diabetic patients with and without nephropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593031

27 September 2017

Elevated xylosyltransferase I activities in pseudoxanthoma elasticum (PXE) patients as a marker of stimulated proteoglycan biosynthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593031

27 September 2017

First isolation of human UDP-D-xylose: proteoglycan core protein beta-D-xylosyltransferase secreted from cultured JAR choriocarcinoma cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593031

27 September 2017

Serum xylosyltransferase: a new biochemical marker of the sclerotic process in systemic sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593031

27 September 2017

Xylosylation of alternatively spliced isoforms of Alzheimer APP by xylosyltransferase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593031

27 September 2017

Molecular cloning of eukaryotic glycoprotein and glycolipid glycosyltransferases: a survey

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593031

27 September 2017

Classification of pseudoxanthoma elasticum: report of a consensus conference

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593031

27 September 2017

Proteoglycans: structures and interactions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593031

27 September 2017

Pseudoxanthoma elasticum: high calcium intake in early life correlates with severity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593031

30 May 2018

Glycosaminoglycans of skin and urine in pseudoxanthoma elasticum: evidence for chondroitin 6-sulfate alteration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593031

30 May 2018

Effect of selective enzymatic digestions on skin biopsies from pseudoxanthoma elasticum: an ultrastructural study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593031

30 May 2018

Mutational and functional analyses of xylosyltransferases and their implication in osteoarthritis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593031

29 November 2018

Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593031

29 November 2018

New ABCC6 gene mutations in German pseudoxanthoma elasticum patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593031

29 November 2018

Assessment of a rapid-cycle PCR assay for the identification of the recurrent c.3421C>T mutation in the ABCC6 gene in pseudoxanthoma elasticum patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593031

29 November 2018

Determination of xylosyltransferase activity in serum with recombinant human bikunin as acceptor.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593031

29 November 2018

Pseudoxanthoma elasticum (PXE): ultrastructural and biochemical study on proteoglycan and proteoglycan-associated material produced by skin fibroblasts in vitro.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593031

29 November 2018

Anomalous Structure of Urinary Glycosaminoglycans in Patients with Pseudoxanthoma Elasticum

1 reference

https://pubmed.ncbi.nlm.nih.gov/16571645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pseudoxanthoma elasticum. Biochemical and ultrastructural studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/16571645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pseudoxanthoma elasticum

1 reference

https://pubmed.ncbi.nlm.nih.gov/16571645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Brief report: occult pseudoxanthoma elasticum in patients with premature cardiovascular disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/16571645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biochemical analyses of macromolecular matrix components in patients with pseudoxanthoma elasticum

1 reference

https://pubmed.ncbi.nlm.nih.gov/16571645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Proteoglycan alterations in skin fibroblast cultures from patients affected with pseudoxanthoma elasticum

1 reference

https://pubmed.ncbi.nlm.nih.gov/16571645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Elevated serum xylosyltransferase activity correlates with a high level of hyaluronate in patients with systemic sclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/16571645

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.2006.040972

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16571645%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16571645%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16571645%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

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