(Q33677641)

English

The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia

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Europe PubMed Central

PubMed publication ID

28 July 2017

The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Kniest dysplasia

1 reference

based on heuristic

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author name string

Winterpacht A

1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Superti-Furga A

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Schwarze U

3

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Stöss H

4

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Steinmann B

5

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Spranger J

6

1 reference

Europe PubMed Central

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28 July 2017

Zabel B

7

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Europe PubMed Central

PubMed publication ID

28 July 2017

language of work or name

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publication date

1 August 1996

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Europe PubMed Central

PubMed publication ID

28 July 2017

Journal of Medical Genetics

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Europe PubMed Central

PubMed publication ID

28 July 2017

33

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Europe PubMed Central

PubMed publication ID

28 July 2017

8

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

649-654

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

The type II collagenopathies: a spectrum of chondrodysplasias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050698

21 June 2018

Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050698

21 June 2018

Supercoil sequencing: a fast and simple method for sequencing plasmid DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050698

21 June 2018

Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050698

21 June 2018

Kniest dysplasia is characterized by an apparent abnormal processing of the C-propeptide of type II cartilage collagen resulting in imperfect fibril assembly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050698

21 June 2018

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050698

21 June 2018

Cartilage contains mixed fibrils of collagen types II, IX, and XI.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050698

21 June 2018

The family of collagen genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050698

21 June 2018

A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050698

21 June 2018

Completion of the intron-exon structure of the gene for human type II procollagen (COL2A1): variations in the nucleotide sequences of the alleles from three chromosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050698

21 June 2018

A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050698

21 June 2018

Defective folding and stable association with protein disulfide isomerase/prolyl hydroxylase of type I procollagen with a deletion in the pro alpha 2(I) chain that preserves the Gly-X-Y repeat pattern

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050698

21 June 2018

The Kniest syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050698

21 June 2018

A reliable method of preparing undecalcified human bone biopsies for electron microscopic investigation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050698

21 June 2018

Kniest Dysplasia. A Histochemical Study of the Growth Plate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050698

21 June 2018

DNA sequencing with chain-terminating inhibitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050698

21 June 2018

Delayed triple helix formation of mutant collagen from patients with osteogenesis imperfecta.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050698

30 October 2018

Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050698

30 October 2018

A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050698

30 October 2018

Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IV.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050698

30 October 2018

A tripeptide deletion in the triple-helical domain of the pro alpha 1(I) chain of type I procollagen in a patient with lethal osteogenesis imperfecta does not alter cleavage of the molecule by N-proteinase

1 reference

https://pubmed.ncbi.nlm.nih.gov/8863156

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/8863156

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Differential diagnosis between dysostosis enchondralis and chondrodystrophy]

1 reference

https://pubmed.ncbi.nlm.nih.gov/8863156

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Kniest's disease]

1 reference

https://pubmed.ncbi.nlm.nih.gov/8863156

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Folding of carboxyl domain and assembly of procollagen I

1 reference

https://pubmed.ncbi.nlm.nih.gov/8863156

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Kniest dysplasia: a probable type II collagen defect

1 reference

https://pubmed.ncbi.nlm.nih.gov/8863156

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.33.8.649

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

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