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

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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

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language of work or name

English

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publication date

2013

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published in

PLOS Genetics

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volume

9

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issue

10

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page(s)

e1003846

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copyright license

start time

3 October 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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

19 March 2017

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

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

19 March 2017

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

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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

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Crystal structure of the BMP-2-BRIA ectodomain complex

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Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis

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19 March 2017

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

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

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

19 March 2017

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

19 March 2017

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

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

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

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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

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7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1371/JOURNAL.PGEN.1003846

1 reference

1 reference

1 reference

PubMed publication ID

24098149

1 reference