(Q52828378)

8 May 2018

title

A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2. (English)

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2

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Stefan Mundlos

7

object named as

Stefan Mundlos

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8 May 2018

author name string

Katarina Lehmann

1

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Jan Boergermann

3

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Gilles Morin

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Silke Reif

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Petra Knaus

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publication date

6 September 2006

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European Journal of Human Genetics

published in

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volume

14

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issue

12

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page(s)

1248-1254

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describes a project that uses

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201708

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cites work

Genetic disorders of the skeleton: a developmental approach

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201708

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201708

Mutations in CDMP1 cause autosomal dominant brachydactyly type C

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201708

GDF5 coordinates bone and joint formation during digit development

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201708

Bone morphogenetic protein receptor complexes on the surface of live cells: a new oligomerization mode for serine/threonine kinase receptors

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201708

The mode of bone morphogenetic protein (BMP) receptor oligomerization determines different BMP-2 signaling pathways.

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201708

Intracellular BMP signaling regulation in vertebrates: pathway or network?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201708

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201708

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201708

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201708

Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201708

Nerve growth factor mediates activation of the Smad pathway in PC12 cells

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201708

Identification and functional characterization of distinct critically important bone morphogenetic protein-specific response elements in the Id1 promoter

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201708

Transforming growth factor beta receptor signaling and endocytosis are linked through a COOH terminal activation motif in the type I receptor

21 January 2018

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Modulation of GDF5/BRI-b signalling through interaction with the tyrosine kinase receptor Ror2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201708

The mutational spectrum of brachydactyly type C

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201708

21 January 2018

Identifiers

DOI

10.1038/SJ.EJHG.5201708

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8 May 2018

PubMed ID

16957682

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8 May 2018