A COL11A2 mutation in Labrador retrievers with mild disproportionate dwarfism (Q34635664)

3 August 2017

title

A COL11A2 mutation in Labrador retrievers with mild disproportionate dwarfism (English)

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3 August 2017

11

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3 August 2017

12

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3 August 2017

Katriina Tiira

10

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Johann Lang

object named as

Johann Lang

9

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Cord Drögemüller

object named as

Cord Drögemüller

5

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Elisabeth Dietschi

6

object named as

Elisabeth Dietschi

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3 August 2017

7

Gaudenz Dolf

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3 August 2017

3

Vidhya Jagannathan

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3 August 2017

Mirjam Frischknecht

1

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3 August 2017

Helena Niehof-Oellers

2

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3 August 2017

Marta Owczarek-Lipska

4

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3 August 2017

Bernd Tellhelm

8

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3 August 2017

language of work or name

English

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publication date

20 March 2013

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3 August 2017

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3 August 2017

volume

8

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3 August 2017

issue

3

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3 August 2017

page(s)

e60149

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Creative Commons Attribution 4.0 International

3 August 2017

copyright license

start time

20 March 2013

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Four loci explain 83% of size variation in the horse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3603880

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3603880

Two loci on chromosome 5 are associated with serum IgE levels in Labrador retrievers

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3603880

A genome-wide association study reveals loci influencing height and other conformation traits in horses

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3603880

A review of the principles of radiological assessment of skeletal dysplasias

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3603880

Identification of genomic regions associated with phenotypic variation between dog breeds using selection mapping

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3603880

Variants modulating the expression of a chromosome domain encompassing PLAG1 influence bovine stature.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3603880

From Galton to GWAS: quantitative genetics of human height

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3603880

Hundreds of variants clustered in genomic loci and biological pathways affect human height

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3603880

COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3603880

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3603880

A method and server for predicting damaging missense mutations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3603880

Finding the missing heritability of complex diseases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3603880

A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3603880

An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3603880

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3603880

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3603880

Fast and accurate short read alignment with Burrows-Wheeler transform

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3603880

Genetic and orthopedic aspects of collagen disorders.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3603880

Leader of the pack: gene mapping in dogs and other model organisms

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3603880

PLINK: a tool set for whole-genome association and population-based linkage analyses

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3603880

A single IGF1 allele is a major determinant of small size in dogs

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3603880

Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3603880

Domestic-animal genomics: deciphering the genetics of complex traits

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3603880

Lymphotoxin pathway directs thymic Aire expression

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3603880

Targeted disruption of Col11a2 produces a mild cartilage phenotype in transgenic mice: comparison with the human disorder otospondylomegaepiphyseal dysplasia (OSMED)

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3603880

Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3603880

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)

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3603880

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3603880

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3603880

Polymorphic regions affecting human height also control stature in cattle.

7 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0060149

Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0060149

Evaluation of candidate genes as a cause of chondrodysplasia in Labrador retrievers

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23527306

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Collagen XI nucleates self-assembly and limits lateral growth of cartilage fibrils

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23527306

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0060149

1 reference

3 August 2017

0 references

1 reference

3 August 2017

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