(Q33645936)

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A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

extracellular matrix

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Patrik Onnerfjord

4

object named as

Patrik Onnerfjord

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Stefan Lohmander

9

object named as

Stefan Lohmander

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

author name string

Eva-Lena Stattin

1

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Europe PubMed Central

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28 July 2017

Fredrik Wiklund

2

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28 July 2017

Karin Lindblom

3

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Europe PubMed Central

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28 July 2017

Björn-Anders Jonsson

5

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Yelverton Tegner

6

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Takako Sasaki

7

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

André Struglics

8

1 reference

Europe PubMed Central

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28 July 2017

Niklas Dahl

10

1 reference

Europe PubMed Central

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28 July 2017

Dick Heinegård

11

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28 July 2017

Anders Aspberg

12

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28 July 2017

language of work or name

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publication date

4 February 2010

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28 July 2017

American Journal of Human Genetics

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28 July 2017

86

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Europe PubMed Central

PubMed publication ID

28 July 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

126-137

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820178

21 June 2018

Genome-wide association analysis identifies 20 loci that influence adult height

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820178

21 June 2018

Etiology and pathogenesis of osteochondrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820178

21 June 2018

Lessons from genetic forms of osteoarthritis for the pathogenesis of the disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820178

21 June 2018

A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820178

21 June 2018

Structural basis for interactions between tenascins and lectican C-type lectin domains: evidence for a crosslinking role for tenascins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820178

21 June 2018

Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820178

21 June 2018

Chondrodysplasias due to proteoglycan defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820178

21 June 2018

Denaturing high-performance liquid chromatography: A review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820178

21 June 2018

Identification and characterization of asporin. a novel member of the leucine-rich repeat protein family closely related to decorin and biglycan

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820178

21 June 2018

The proteoglycans aggrecan and Versican form networks with fibulin-2 through their lectin domain binding

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820178

21 June 2018

Linkage analysis in the presence of errors I: complex-valued recombination fractions and complex phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820178

21 June 2018

Completion of the mouse aggrecan gene structure and identification of the defect in the cmd-Bc mouse as a near complete deletion of the murine aggrecan gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820178

21 June 2018

Fibulin-1 is a ligand for the C-type lectin domains of aggrecan and versican.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820178

21 June 2018

Mapping of a defined neurocan binding site to distinct domains of tenascin-C

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820178

21 June 2018

Binding of fibulin-1 to nidogen depends on its C-terminal globular domain and a specific array of calcium-binding epidermal growth factor-like (EG) modules

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820178

21 June 2018

The C-type lectin domains of lecticans, a family of aggregating chondroitin sulfate proteoglycans, bind tenascin-R by protein-protein interactions independent of carbohydrate moiety

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820178

21 June 2018

Dimer model for the microfibrillar protein fibulin-2 and identification of the connecting disulfide bridge

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820178

21 June 2018

Dwarfism and age-associated spinal degeneration of heterozygote cmd mice defective in aggrecan

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820178

21 June 2018

Distinct effects of recombinant tenascin-R domains in neuronal cell functions and identification of the domain interacting with the neuronal recognition molecule F3/11

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820178

21 June 2018

Osteochondritis dissecans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820178

21 June 2018

cDNA cloning of chick cartilage chondroitin sulfate (aggrecan) core protein and identification of a stop codon in the aggrecan gene associated with the chondrodystrophy, nanomelia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820178

21 June 2018

Structure of the human aggrecan gene: exon-intron organization and association with the protein domains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820178

21 June 2018

The versican C-type lectin domain recognizes the adhesion protein tenascin-R.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820178

21 June 2018

Familial Osteochondritis Dissecans and Dwarfism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820178

21 June 2018

Complete primary structure of the rat cartilage proteoglycan core protein deduced from cDNA clones.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820178

21 June 2018

Chondrocytes from the cartilage proteoglycan-deficient mutant, nanomelia, synthesize greatly reduced levels of the proteoglycan core protein transcript

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820178

21 June 2018

Structure and biology of cartilage and bone matrix noncollagenous macromolecules

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820178

21 June 2018

The incidence of osteochondritis dissecans in the condyles of the femur

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820178

21 June 2018

Bulldog dwarfism in Dexter cattle is caused by mutations in ACAN.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820178

30 October 2018

Alternative splicing in the aggrecan G3 domain influences binding interactions with tenascin-C and other extracellular matrix proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820178

30 October 2018

Simultaneous preparation and quantitation of proteoglycans by precipitation with alcian blue.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820178

30 October 2018

Mouse cartilage matrix deficiency (cmd) caused by a 7 bp deletion in the aggrecan gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820178

30 October 2018

Familial osteochondritis dissecans

1 reference

https://pubmed.ncbi.nlm.nih.gov/20137779

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature

1 reference

https://pubmed.ncbi.nlm.nih.gov/20137779

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A robust multipoint linkage statistic (tlod) for mapping complex trait loci

1 reference

https://pubmed.ncbi.nlm.nih.gov/20137779

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Versican interacts with fibrillin-1 and links extracellular microfibrils to other connective tissue networks

1 reference

https://pubmed.ncbi.nlm.nih.gov/20137779

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Aggregation of cartilage proteoglycans. 3. Characteristics of the proteins isolated from trypsin digests of aggregates

1 reference

https://pubmed.ncbi.nlm.nih.gov/20137779

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial multiple osteochondritis dissecans. Report of a kindred

1 reference

https://pubmed.ncbi.nlm.nih.gov/20137779

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation and characterization of proteoglycans

1 reference

https://pubmed.ncbi.nlm.nih.gov/20137779

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nanomelic chondrocytes synthesize, but fail to translocate, a truncated aggrecan precursor

1 reference

https://pubmed.ncbi.nlm.nih.gov/20137779

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

FAMILIAL OCCURRENCE OF OSTEOCHONDRITIS DISSECANS

1 reference

https://pubmed.ncbi.nlm.nih.gov/20137779

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2009.12.018

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

ResearchGate publication ID

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