A GDF5 point mutation strikes twice--causing BDA1 and SYNS2 (Q24337747)

positive regulation of chondrocyte differentiation

1 reference

Bone morphogenetic protein receptor, type 1A

1 reference

Bone morphogenetic protein receptor, type 1B

1 reference

multiple synostoses syndrome

1 reference

12

0 references

Joachim Nickel

6

0 references

Petra Seemann

Petra Seemann

14

0 references

Katarina Dathe

Katarina Dathe

10

0 references

James Sharpe

James Sharpe

9

0 references

Jacqueline T. Hecht

11

Jacqueline T Hecht

0 references

author name string

Elisa Degenkolbe

1

0 references

Jana König

2

0 references

Julia Zimmer

3

0 references

Maria Walther

4

0 references

Carsten Reißner

5

0 references

Frank Plöger

7

0 references

Jelena Raspopovic

8

0 references

Sandra C Doelken

Creative Commons Attribution 4.0 International

13

0 references

language of work or name

English

0 references

publication date

2013

0 references

published in

PLOS Genetics

0 references

volume

9

0 references

issue

10

0 references

page(s)

e1003846

0 references

copyright license

start time

3 October 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3789827

Crystal structure analysis reveals a spring-loaded latch as molecular mechanism for GDF-5-type I receptor specificity

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3789827

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3789827

Bmpr1a and Bmpr1b have overlapping functions and are essential for chondrogenesis in vivo

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3789827

Molecular recognition of BMP-2 and BMP receptor IA

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3789827

Signal transduction of bone morphogenetic protein receptors

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3789827

Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3789827

Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3789827

Crystal structure of the BMP-2-BRIA ectodomain complex

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3789827

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3789827

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3789827

Structural basis of BMP signalling inhibition by the cystine knot protein Noggin

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3789827

Bone morphogenetic protein receptors and signal transduction

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3789827

Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3789827

BMP and Ihh/PTHrP signaling interact to coordinate chondrocyte proliferation and differentiation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3789827

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3789827

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3789827

Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3789827

Limb alterations in brachypodism mice due to mutations in a new member of the TGF beta-superfamily

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3789827

Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3789827

Optical projection tomography as a tool for 3D microscopy and gene expression studies

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3789827

Rs143383 in the growth differentiation factor 5 (GDF5) gene significantly associated with osteoarthritis (OA)-a comprehensive meta-analysis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3789827

Promiscuity and specificity in BMP receptor activation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3789827

Genetics and epigenetics of osteoarthritis.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3789827

Mechanisms of digit formation: Human malformation syndromes tell the story

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3789827

Bone morphogenetic proteins: a critical review

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3789827

Mutations in GDF5 presenting as semidominant brachydactyly A1.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3789827

The brachydactylies: a molecular disease family

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3789827

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3789827

TGFbeta-SMAD signal transduction: molecular specificity and functional flexibility

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3789827

A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3789827

A novel dominant-negative mutation in Gdf5 generated by ENU mutagenesis impairs joint formation and causes osteoarthritis in mice

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3789827

GDF5 is a second locus for multiple-synostosis syndrome.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3789827

Bone morphogenetic protein signaling in joint homeostasis and disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3789827

A single residue of GDF-5 defines binding specificity to BMP receptor IB.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3789827

The type I BMP receptor BMPRIB is required for chondrogenesis in the mouse limb

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3789827

Distinct roles of type I bone morphogenetic protein receptors in the formation and differentiation of cartilage

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3789827

Manipulating gene expression with replication-competent retroviruses

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3789827

Identification and functional characterization of a Smad binding element (SBE) in the JunB promoter that acts as a transforming growth factor-beta, activin, and bone morphogenetic protein-inducible enhancer.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3789827

Brachydactyly type A2 associated with a defect in proGDF5 processing

30 May 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003846

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003846

A protocol for combined Photinus and Renilla luciferase quantification compatible with protein assays

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003846

Generation of transgenic tendon reporters, ScxGFP and ScxAP, using regulatory elements of the scleraxis gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003846

Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003846

The mutational spectrum of brachydactyly type C

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003846

GDF5 deficiency in mice is associated with instability-driven joint damage, gait and subchondral bone changes

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24098149

12 December 2020

inferred from PubMed ID database lookup

Preparation of mouse embryos for optical projection tomography imaging

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24098149

12 December 2020

inferred from PubMed ID database lookup

A novel mutation in GDF5 causes autosomal dominant symphalangism in two Chinese families

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24098149

12 December 2020

inferred from PubMed ID database lookup

Chapter 10 Manipulating Gene Expression with Replication--Competent Retroviruses

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003846

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1371/JOURNAL.PGEN.1003846

1 reference

4985538

4985538

1 reference

1 reference

1 reference