(Q22010382)

English

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes

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scholarly article

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Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes (English)

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Collagen type XI alpha 1 chain

1 reference

GOA release 2020-03-11

Collagen type II alpha 1 chain

1 reference

GOA release 2020-03-11

protein-macromolecule adaptor activity

1 reference

GOA release 2020-03-11

Marshall syndrome

1 reference

based on heuristic

inferred from title

Marshall syndrome

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based on heuristic

inferred from title

object named as

M Vikkula

22

author given names

M

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Vikkula

1 reference

6 February 2023

Anna Latos-Bieleńska

17

object named as

A Latos-Bielenska

author given names

A

author last names

Latos-Bielenska

1 reference

6 February 2023

author name string

S Annunen

1

author given names

S

author last names

Annunen

1 reference

6 February 2023

J Körkkö

2

author given names

J

author last names

Körkkö

1 reference

6 February 2023

M Czarny

3

author given names

M

author last names

Czarny

1 reference

6 February 2023

M L Warman

4

author given names

M L

author last names

Warman

1 reference

6 February 2023

H G Brunner

5

author given names

H G

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Brunner

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6 February 2023

H Kääriäinen

6

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H

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Kääriäinen

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6 February 2023

J B Mulliken

7

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J B

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Mulliken

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6 February 2023

L Tranebjaerg

8

author given names

L

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Tranebjaerg

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6 February 2023

D G Brooks

9

author given names

D G

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Brooks

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6 February 2023

G F Cox

10

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G F

author last names

Cox

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6 February 2023

J R Cruysberg

11

author given names

J R

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Cruysberg

1 reference

6 February 2023

M A Curtis

12

author given names

M A

author last names

Curtis

1 reference

6 February 2023

S L Davenport

13

author given names

S L

author last names

Davenport

1 reference

6 February 2023

C A Friedrich

14

author given names

C A

author last names

Friedrich

1 reference

6 February 2023

I Kaitila

15

author given names

I

author last names

Kaitila

1 reference

6 February 2023

M R Krawczynski

16

author given names

M R

author last names

Krawczynski

1 reference

6 February 2023

S Mukai

18

author given names

S

author last names

Mukai

1 reference

6 February 2023

B R Olsen

19

author given names

B R

author last names

Olsen

1 reference

6 February 2023

N Shinno

20

author given names

N

author last names

Shinno

1 reference

6 February 2023

M Somer

21

author given names

M

author last names

Somer

1 reference

6 February 2023

J Zlotogora

23

author given names

J

author last names

Zlotogora

1 reference

6 February 2023

D J Prockop

24

author given names

D J

author last names

Prockop

1 reference

6 February 2023

L Ala-Kokko

25

author given names

L

author last names

Ala-Kokko

1 reference

6 February 2023

language of work or name

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publication date

October 1999

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American Journal of Human Genetics

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65

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974-83

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4

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Marshall syndrome associated with a splicing defect at the COL11A1 locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288268

19 March 2017

Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288268

19 March 2017

A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288268

19 March 2017

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288268

19 March 2017

Cloning and sequencing of pro-alpha 1 (XI) collagen cDNA demonstrates that type XI belongs to the fibrillar class of collagens and reveals that the expression of the gene is not restricted to cartilagenous tissue

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288268

19 March 2017

Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288268

19 March 2017

Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288268

19 March 2017

Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288268

19 March 2017

Alternative mRNA processing occurs in the variable region of the pro-alpha 1(XI) and pro-alpha 2(XI) collagen chains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288268

19 March 2017

HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATHY

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288268

12 September 2017

Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: comparison with denaturing gradient gel electrophoresis and nucleotide sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288268

12 September 2017

The Marshall syndrome: report of a new family and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288268

12 September 2017

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288268

12 September 2017

Collagens: molecular biology, diseases, and potentials for therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288268

12 September 2017

Variability of Stickler syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288268

12 September 2017

A partial hprt gene duplication generated by non-homologous recombination in V79 Chinese hamster cells is eliminated by homologous recombination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288268

27 September 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=1288268

27 September 2017

Type II collagen mutations in rare and common cartilage diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288268

27 September 2017

Convenient single-step, one tube purification of PCR products for direct sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288268

27 September 2017

Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288268

27 September 2017

The Stickler syndrome (hereditary arthroophthalmopathy)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288268

27 September 2017

Conservation of the sizes of 53 introns and over 100 intronic sequences for the binding of common transcription factors in the human and mouse genes for type II procollagen (COL2A1).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288268

30 May 2018

The Marshall and Stickler syndromes: objective rejection of lumping.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288268

30 May 2018

The Weissenbacher-Zweymüller, Stickler, and Marshall syndromes: further evidence for their identity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288268

30 May 2018

Stickler's syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288268

30 May 2018

The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288268

30 May 2018

Molecular analysis of deletions in the human beta-globin gene cluster: deletion junctions and locations of breakpoints.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288268

30 May 2018

Localization of type II, IX and V collagen in the inner ear

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288268

30 May 2018

Generalized osseous abnormalities in the Marshall syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288268

30 May 2018

Ectodermal dysplasia; report of kindred with ocular abnormalities and hearing defect.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288268

29 November 2018

A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred

1 reference

https://pubmed.ncbi.nlm.nih.gov/10486316

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Letter: The demise of the Marshall syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/10486316

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Marshall syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/10486316

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage study in a large pedigree with Stickler syndrome: exclusion of COL2A1 as the mutant gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/10486316

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic and clinical heterogeneity of Stickler syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/10486316

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation and characterization of the chains of type V/type XI collagen present in bovine vitreous

1 reference

https://pubmed.ncbi.nlm.nih.gov/10486316

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels

1 reference

https://api.crossref.org/works/10.1086%2F302585

7 January 2021

based on heuristic

inferred from DOI database lookup

Alternative mRNA Processing Occurs in the Variable Region of the Pro-1(XI) and Pro-2(XI) Collagen Chains

1 reference

https://api.crossref.org/works/10.1086%2F302585

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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