Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe (Q28588639)

GOA release 2020-03-11

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10

Christian Kubisch

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Stefan Mundlos

9

Stefan Mundlos

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31 January 2017

Petra Seemann

15

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Eva Klopocki

Eva Klopocki

12

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Valérie Cormier-Daire

Valerie Cormier-Daire

8

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Luitgard Graul-Neumann

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Luitgard M. Graul-Neumann

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31 January 2017

Alexandra Deichsel

2

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31 January 2017

Ulrike Wille

3

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31 January 2017

Naseebullah Kakar

4

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31 January 2017

Randi Koll

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31 January 2017

Christian Bassir

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31 January 2017

Jamil Ahmad

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31 January 2017

Guntram Borck

11

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31 January 2017

Thomas D. Mueller

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31 January 2017

Sandra C. Doelken

European Journal of Human Genetics

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31 January 2017

1 June 2014

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31 January 2017

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31 January 2017

22

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31 January 2017

6

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31 January 2017

726–733

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31 January 2017

Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023204

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023204

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023204

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023204

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023204

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023204

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023204

Mutations in CDMP1 cause autosomal dominant brachydactyly type C

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023204

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023204

A new bioinformatics analysis tools framework at EMBL-EBI.

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023204

Quality control in the endoplasmic reticulum

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023204

A series of normal stages in the development of the chick embryo. 1951

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023204

NMD: a multifaceted response to premature translational termination

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023204

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023204

A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023204

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023204

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023204

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023204

Genetic disorders of the skeleton: a developmental approach

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023204

Role of Runx genes in chondrocyte differentiation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023204

Adaptor plasmids simplify the insertion of foreign DNA into helper-independent retroviral vectors

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023204

Nosology and classification of genetic skeletal disorders: 2010 revision.

29 September 2017

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.222

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.222

Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia

21 January 2018

3 references

https://api.crossref.org/works/10.1038%2FEJHG.2013.222

21 January 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023204

27 November 2018

12 December 2020

Grebe-type chondrodysplasia: a novel missense mutation in a conserved cysteine of the growth differentiation factor 5.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.222

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.222

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.222

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.222

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%2FEJHG.2013.222

CHROMA: consensus-based colouring of multiple alignments for publication

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.222

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.222

The mutational spectrum of brachydactyly type C

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.222

Grebe dysplasia and the spectrum of CDMP1 mutations.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023204

Embryonic limb mesenchyme micromass culture as an in vitro model for chondrogenesis and cartilage maturation.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023204

Heterozygote expression in Grebe chondrodysplasia

27 November 2018

1 reference

PubMed

12 December 2020

Targeted gene misexpression in chick limb buds using avian replication-competent retroviruses

1 reference

PubMed

12 December 2020

Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene

1 reference

PubMed

12 December 2020