Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1. (Q36695753)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25758993%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

title

Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1 (English)

1 reference

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2 March 2020

3

1 reference

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2 March 2020

6

Judith Allanson

1 reference

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2 March 2020

author name string

Lemuel Racacho

1

1 reference

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2 March 2020

Ashley M Byrnes

2

1 reference

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2 March 2020

Helen J Dranse

4

1 reference

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2 March 2020

Sarah M Nikkel

5

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2 March 2020

Elisabeth Rosser

7

1 reference

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2 March 2020

T Michael Underhill

8

1 reference

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2 March 2020

Dennis E Bulman

9

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2 March 2020

publication date

11 March 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25758993%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

2 March 2020

published in

1 reference

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2 March 2020

volume

23

1 reference

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2 March 2020

issue

12

1 reference

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2 March 2020

page(s)

1640-1645

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Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International

2 March 2020

copyright license

start time

11 March 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1038/ejhg.2015.38

0 references

cites work

Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe

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A GDF5 point mutation strikes twice--causing BDA1 and SYNS2

30 September 2017

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TGFβ signalling in context

30 September 2017

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A novel mutation in CDMP1 causes brachydactyly type C with "angel-shaped phalanx". A genotype-phenotype correlation in the mutational spectrum

30 September 2017

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30 September 2017

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Mechanisms of digit formation: Human malformation syndromes tell the story

30 September 2017

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Mutations in GDF5 presenting as semidominant brachydactyly A1.

30 September 2017

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Regulation of BMP-dependent chondrogenesis in early limb mesenchyme by TGFbeta signals

30 September 2017

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RNA processing and its regulation: global insights into biological networks

30 September 2017

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Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog

30 September 2017

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Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1

30 September 2017

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TGFbeta-SMAD signal transduction: molecular specificity and functional flexibility

30 September 2017

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BMP action in skeletogenesis involves attenuation of retinoid signaling

30 September 2017

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A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva

30 September 2017

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GDF5 is a second locus for multiple-synostosis syndrome.

30 September 2017

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

30 September 2017

1 reference

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A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2.

30 September 2017

1 reference

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

30 September 2017

1 reference

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A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies.

30 September 2017

1 reference

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

30 September 2017

1 reference

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Molecular recognition in bone morphogenetic protein (BMP)/receptor interaction

30 September 2017

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Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

30 September 2017

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

30 September 2017

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

30 September 2017

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Clinical and radiological assessment of a family with mild brachydactyly type A1: the usefulness of metacarpophalangeal profiles

30 September 2017

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Regulation of skeletal progenitor differentiation by the BMP and retinoid signaling pathways

30 September 2017

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

30 September 2017

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Combinatorial signaling through BMP receptor IB and GDF5: shaping of the distal mouse limb and the genetics of distal limb diversity

30 September 2017

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

30 September 2017

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

30 September 2017

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Mutations in CDMP1 cause autosomal dominant brachydactyly type C

30 September 2017

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

30 September 2017

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

30 September 2017

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Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project

30 September 2017

1 reference

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The genetics of hand malformations

30 September 2017

1 reference

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

30 September 2017

1 reference

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IBM-PC compatible software for establishing metacarpophalangeal pattern profiles

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795202

Analysis of chondrogenesis using micromass cultures of limb mesenchyme.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795202

A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795202

Brachydactyly type A2 associated with a defect in proGDF5 processing

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795202

Visualization of cartilage formation: insight into cellular properties of skeletal progenitors and chondrodysplasia syndromes.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795202

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795202

Congenital contractural arachnodactyly, brachydactyly and sensorineural hearing loss: an unusual association.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795202

Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795202

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795202

Clinical and molecular analysis of Grebe acromesomelic dysplasia in an Omani family.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795202

Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795202

Multiple requirements for the receptor serine/threonine kinase thick veins reveal novel functions of TGF beta homologs during Drosophila embryogenesis

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795202

The mutational spectrum of brachydactyly type C

5 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2015.38

Missense mutations of the BMPR1B (ALK6) gene in childhood idiopathic pulmonary arterial hypertension

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25758993

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25758993

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25758993

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2015.38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25758993%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25758993%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25758993%20AND%20SRC:MED&resulttype=core&format=json