(Q33832884)

29 July 2017

title

Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients (English)

1 reference

spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome

29 July 2017

1 reference

1 reference

inferred from title

author

Noushad Karuvantevida

object named as

Noushad S Karuvantevida

5

0 references

Bassam R. Ali

object named as

Bassam R Ali

1

0 references

Lihadh Al-Gazali

7

object named as

Lihadh Al-Gazali

1 reference

29 July 2017

8

Birgit Leitinger

1 reference

29 July 2017

2

Huifang Xu

1 reference

29 July 2017

Nadia A Akawi

3

1 reference

29 July 2017

Anne John

4

1 reference

29 July 2017

Ruth Langer

6

1 reference

29 July 2017

publication date

10 March 2010

1 reference

29 July 2017

published in

Human Molecular Genetics

1 reference

29 July 2017

volume

19

1 reference

29 July 2017

issue

11

1 reference

29 July 2017

page(s)

2239-2250

1 reference

Crystallographic insight into collagen recognition by discoidin domain receptor 2

29 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865377

Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865377

Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865377

Ror receptor tyrosine kinases: orphans no more

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865377

A novel dwarfism with gonadal dysfunction due to loss-of-function allele of the collagen receptor gene, Ddr2, in the mouse

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865377

The recognition and retrotranslocation of misfolded proteins from the endoplasmic reticulum

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865377

Protein quality control in the early secretory pathway

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865377

Structural basis of the collagen-binding mode of discoidin domain receptor 2

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865377

Mammalian collagen receptors

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865377

The discoidin domain receptor DDR2 is a receptor for type X collagen

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865377

A transmembrane leucine zipper is required for activation of the dimeric receptor tyrosine kinase DDR1.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865377

Sensing extracellular matrix: an update on discoidin domain receptor function

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865377

Search and destroy: ER quality control and ER-associated protein degradation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865377

The D2 period of collagen II contains a specific binding site for the human discoidin domain receptor, DDR2

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865377

A cure for traffic jams: small molecule chaperones in the endoplasmic reticulum

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865377

Traffic jams II: an update of diseases of intracellular transport

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865377

Proteolysis and sterol regulation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865377

The collagen receptor DDR2 regulates proliferation and its elimination leads to dwarfism

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865377

Traffic jam: a compendium of human diseases that affect intracellular transport processes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865377

An orphan receptor tyrosine kinase family whose members serve as nonintegrin collagen receptors

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865377

The discoidin domain receptor tyrosine kinases are activated by collagen

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865377

Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865377

Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865377

Sudden death in spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865377

The time of onset of abnormal calcification in spondylometaepiphyseal dysplasia, short limb-abnormal calcification type

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865377

Characterization of high affinity binding motifs for the discoidin domain receptor DDR2 in collagen

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865377

Visiting the ER: the endoplasmic reticulum as a target for therapeutics in traffic related diseases

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865377

Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865377

ER-associated protein degradation is a common mechanism underpinning numerous monogenic diseases including Robinow syndrome.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865377

One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865377

Molecular analysis of collagen binding by the human discoidin domain receptors, DDR1 and DDR2. Identification of collagen binding sites in DDR2.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865377

Further delineation of spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type, with emphasis on diagnostic features

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20223752

12 December 2020

inferred from PubMed ID database lookup

Spondylo-meta-epiphyseal dysplasia, short limb, abnormal calcification type

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20223752

12 December 2020

inferred from PubMed ID database lookup

Spondylo-meta-epiphyseal dysplasia, short limbs, abnormal calcification type: a new case with severe neurological involvement

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20223752

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1093/HMG/DDQ103

1 reference

29 July 2017

1 reference

29 July 2017

1 reference