(Q45350611)

English

Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family

scientific article published on 29 June 2013

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scholarly article

1 reference

Europe PubMed Central

13 December 2017

Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family (English)

1 reference

Europe PubMed Central

13 December 2017

1 reference

based on heuristic

inferred from title

brachydactyly type C

1 reference

based on heuristic

inferred from title

6

object named as

Shahid Mahmood Baig

1 reference

Europe PubMed Central

13 December 2017

author name string

Muhammad Farooq

1

1 reference

Europe PubMed Central

13 December 2017

Hiroyuki Nakai

2

1 reference

Europe PubMed Central

13 December 2017

Atsushi Fujimoto

3

1 reference

Europe PubMed Central

13 December 2017

Hiroki Fujikawa

4

1 reference

Europe PubMed Central

13 December 2017

Klaus Wilbrandt Kjaer

5

1 reference

Europe PubMed Central

13 December 2017

Yutaka Shimomura

7

1 reference

Europe PubMed Central

13 December 2017

publication date

29 June 2013

1 reference

Europe PubMed Central

13 December 2017

1 reference

Europe PubMed Central

13 December 2017

132

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Europe PubMed Central

13 December 2017

11

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Europe PubMed Central

13 December 2017

1253-1264

1 reference

Europe PubMed Central

13 December 2017

https://scigraph.springernature.com/pub.10.1007/s00439-013-1330-3

0 references

The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1330-3

21 January 2018

Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1330-3

21 January 2018

Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1330-3

21 January 2018

GDF5 is a second locus for multiple-synostosis syndrome.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1330-3

21 January 2018

Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene

1 reference

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21 January 2018

Disruption of the latent transforming growth factor-beta binding protein-1 gene causes alteration in facial structure and influences TGF-beta bioavailability

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1330-3

21 January 2018

Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1330-3

21 January 2018

Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome)

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1330-3

21 January 2018

Brachydactyly C, short stature, and hip dysplasia

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1330-3

21 January 2018

Requirement for activin A and transforming growth factor--beta 1 pro-regions in homodimer assembly.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1330-3

21 January 2018

Recombinant human growth/differentiation factor 5 stimulates mesenchyme aggregation and chondrogenesis responsible for the skeletal development of limbs.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1330-3

21 January 2018

Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1330-3

21 January 2018

Tgfbeta2 and 3 are coexpressed with their extracellular regulator Ltbp1 in the early limb bud and modulate mesodermal outgrowth and BMP signaling in chicken embryos.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1330-3

21 January 2018

Cartilage-derived morphogenetic protein-1

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1330-3

21 January 2018

Expression and function of Gdf-5 during digit skeletogenesis in the embryonic chick leg bud.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1330-3

21 January 2018

A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1330-3

21 January 2018

Efficient selection for high-expression transfectants with a novel eukaryotic vector

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1330-3

21 January 2018

Identification of p2y9/GPR23 as a Novel G Protein-coupled Receptor for Lysophosphatidic Acid, Structurally Distant from the Edg Family

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1330-3

21 January 2018

Brachydactyly type A2 associated with a defect in proGDF5 processing

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1330-3

21 January 2018

Mutations in CDMP1 cause autosomal dominant brachydactyly type C

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1330-3

21 January 2018

TB domain proteins: evolutionary insights into the multifaceted roles of fibrillins and LTBPs

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1330-3

21 January 2018

Specific sequence motif of 8-Cys repeats of TGF-beta binding proteins, LTBPs, creates a hydrophobic interaction surface for binding of small latent TGF-beta

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1330-3

21 January 2018

Latent transforming growth factor-beta binding proteins (LTBPs)--structural extracellular matrix proteins for targeting TGF-beta action

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1330-3

21 January 2018

Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1330-3

21 January 2018

Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1330-3

21 January 2018

Targeting of bone morphogenetic protein growth factor complexes to fibrillin

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1330-3

21 January 2018

Multiple joint and skeletal patterning defects caused by single and double mutations in the mouse Gdf6 and Gdf5 genes

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1330-3

21 January 2018

Identification and analysis of discrete functional domains in the pro region of pre-pro-transforming growth factor beta 1.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1330-3

21 January 2018

Latent TGF-β structure and activation

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1330-3

21 January 2018

APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1330-3

21 January 2018

GDF5 coordinates bone and joint formation during digit development

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1330-3

21 January 2018

Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1330-3

21 January 2018

Latent transforming growth factor-beta 1 associates to fibroblast extracellular matrix via latent TGF-beta binding protein

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1330-3

21 January 2018

A human chondrodysplasia due to a mutation in a TGF-beta superfamily member

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1330-3

21 January 2018

Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1330-3

21 January 2018

CDMP1/GDF5 has specific processing requirements that restrict its action to joint surfaces

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1330-3

21 January 2018

Characterization of a secreted form of human furin endoprotease

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1330-3

21 January 2018

Activation of latent myostatin by the BMP-1/tolloid family of metalloproteinases

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1330-3

21 January 2018

The mutational spectrum of brachydactyly type C

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1330-3

21 January 2018

Mechanisms of GDF-5 action during skeletal development

1 reference

https://pubmed.ncbi.nlm.nih.gov/23812741

12 December 2020

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inferred from PubMed ID database lookup

Transforming growth factor-beta 1, -beta 2, and -beta 3 secreted by a human glioblastoma cell line. Identification of small and different forms of large latent complexes

1 reference

https://pubmed.ncbi.nlm.nih.gov/23812741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism

1 reference

https://pubmed.ncbi.nlm.nih.gov/23812741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cartilage-derived morphogenetic proteins. New members of the transforming growth factor-beta superfamily predominantly expressed in long bones during human embryonic development

1 reference

https://pubmed.ncbi.nlm.nih.gov/23812741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Latent transforming growth factor-beta from human platelets. A high molecular weight complex containing precursor sequences.

1 reference

https://pubmed.ncbi.nlm.nih.gov/23812741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Release of transforming growth factor-beta 1 from the pericellular matrix of cultured fibroblasts and fibrosarcoma cells by plasmin and thrombin

1 reference

https://pubmed.ncbi.nlm.nih.gov/23812741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Latent high molecular weight complex of transforming growth factor beta 1. Purification from human platelets and structural characterization

1 reference

https://pubmed.ncbi.nlm.nih.gov/23812741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prodomains regulate the synthesis, extracellular localisation and activity of TGF-β superfamily ligands

1 reference

https://pubmed.ncbi.nlm.nih.gov/23812741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Growth/differentiation factor-5 (GDF-5) and skeletal development

1 reference

https://pubmed.ncbi.nlm.nih.gov/23812741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Association of the small latent transforming growth factor-beta with an eight cysteine repeat of its binding protein LTBP-1

1 reference

https://pubmed.ncbi.nlm.nih.gov/23812741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-013-1330-3

1 reference

Europe PubMed Central

13 December 2017

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0 references

1 reference

Europe PubMed Central

13 December 2017

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