Marshall syndrome associated with a splicing defect at the COL11A1 locus (Q24538872)

6 July 2017

title

Marshall syndrome associated with a splicing defect at the COL11A1 locus (English)

1 reference

6 July 2017

1 reference

1 reference

A J Griffith

1

1 reference

6 July 2017

L K Sprunger

2

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6 July 2017

D A Sirko-Osadsa

3

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6 July 2017

G E Tiller

4

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6 July 2017

M H Meisler

5

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6 July 2017

M L Warman

6

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6 July 2017

language of work or name

English

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publication date

1 April 1998

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American Journal of Human Genetics

6 July 2017

published in

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6 July 2017

volume

62

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6 July 2017

issue

4

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6 July 2017

page(s)

816-823

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Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome

6 July 2017

cites work

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The molecular basis of Boston-type craniosynostosis: the Pro148-->His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences

24 March 2017

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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

24 March 2017

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Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

24 March 2017

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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

24 March 2017

1 reference

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24 March 2017

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24 March 2017

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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

24 March 2017

1 reference

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377029

Mapping of a human fibrillar collagen gene, pro alpha 1 (XI) (COL11A1), to the p21 region of chromosome 1

24 March 2017

1 reference

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Pro-alpha 1(XI) collagen. Structure of the amino-terminal propeptide and expression of the gene in tumor cell lines

24 March 2017

1 reference

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A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis

24 March 2017

1 reference

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

24 March 2017

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A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome

27 September 2017

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Localization of the homolog of a mouse craniofacial mutant to human chromosome 18q11 and evaluation of linkage to human CLP and CPO.

27 September 2017

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Prenatal craniofacial development: new insights on normal and abnormal mechanisms

27 September 2017

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Complete structural organization of the human alpha 1 (V) collagen gene (COL5A1): divergence from the conserved organization of other characterized fibrillar collagen genes.

27 September 2017

1 reference

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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

27 September 2017

1 reference

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Molecular basis of hereditary disorders of connective tissue

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377029

Mechanisms for selecting 5' splice sites in mammalian pre-mRNA splicing

27 September 2017

1 reference

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The type II collagenopathies: a spectrum of chondrodysplasias

27 September 2017

1 reference

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The enigma of cephalogenesis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377029

An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377029

Alternative exon splicing within the amino-terminal nontriple-helical domain of the rat pro-alpha 1(XI) collagen chain generates multiple forms of the mRNA transcript which exhibit tissue-dependent variation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377029

Fibroblast growth factors, their receptors and receptor disorders

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377029

Altered subthreshold sodium currents and disrupted firing patterns in Purkinje neurons of Scn8a mutant mice.

27 September 2017

1 reference

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Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia.

30 May 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377029

Genetic analysis of craniofacial development in the vertebrate embryo

30 May 2018

1 reference

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Separable cis-regulatory elements that contribute to tissue- and site-specific alpha 2(XI) collagen gene expression in the embryonic mouse cartilage.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377029

Characterization of the COL2A1 VNTR polymorphism

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377029

The mRNAs for the three chains of human collagen type XI are widely distributed but not necessarily co-expressed: implications for homotrimeric, heterotrimeric and heterotypic collagen molecules

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377029

The Marshall and Stickler syndromes: objective rejection of lumping.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377029

Identification of the cartilage alpha 1(XI) chain in type V collagen from bovine bone

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377029

GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377029

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377029

Genotype-phenotype correlation for nucleotide substitutions in the IgII- IgIII linker of FGFR2

29 November 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377029

29 November 2018

7 January 2021

Developmental pattern of expression of the mouse alpha 1 (XI) collagen gene (Col11a1).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377029

Coding sequence and alternative splicing of the mouse alpha 1(XI) collagen gene (Col11a1).

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377029

Stickler syndrome: Correlation between vitreoretinal phenotypes and linkage to COL 2A1

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377029

Letter: The demise of the Marshall syndrome

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9529347

12 December 2020

inferred from PubMed ID database lookup

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9529347

12 December 2020

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

Crossref

7 January 2021

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

1 reference

Crossref

7 January 2021

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

1 reference

Crossref

7 January 2021

Identifiers

DOI

10.1086/301789

1 reference

6 July 2017

1 reference

6 July 2017

1 reference