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A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia

Overview of attention for article published in Orphanet Journal of Rare Diseases, June 2015
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  • Good Attention Score compared to outputs of the same age (68th percentile)

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1 tweeter
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1 Wikipedia page

Citations

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14 Dimensions

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12 Mendeley
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Title
A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia
Published in
Orphanet Journal of Rare Diseases, June 2015
DOI 10.1186/s13023-015-0299-5
Pubmed ID
Authors

Katja Stange, Julie Désir, Naseebullah Kakar, Thomas D. Mueller, Birgit S. Budde, Christopher T. Gordon, Denise Horn, Petra Seemann, Guntram Borck

Abstract

Grebe dysplasia, Hunter-Thompson dysplasia, and du Pan dysplasia constitute a spectrum of skeletal dysplasias inherited as an autosomal recessive trait characterized by short stature, severe acromesomelic shortening of the limbs, and normal axial skeleton. The majority of patients with these disorders have biallelic loss-of-function mutations of GDF5. In single instances, Grebe dysplasia and a Grebe dysplasia-like phenotype with genital anomalies have been shown to be caused by mutations in BMPR1B, encoding a GDF5 receptor. We clinically and radiologically characterised an acromesomelic chondrodysplasia in an adult woman born to consanguineous parents. We sequenced GDF5 and BMPR1B on DNA of the proposita. We performed 3D structural analysis and luciferase reporter assays to functionally investigate the identified BMPR1B mutation. We extend the genotype-phenotype correlation in the acromesomelic chondrodysplasias by showing that the milder du Pan dysplasia can be caused by a hypomorphic BMPR1B mutation. We show that the homozygous c.91C > T, p.(Arg31Cys) mutation causing du Pan dysplasia leads to a significant loss of BMPR1B function, but to a lesser extent than the previously reported p.Cys53Arg mutation that results in the more severe Grebe dysplasia. The phenotypic severity gradient of the clinically and radiologically related acromesomelic chondrodysplasia spectrum of skeletal disorders may be due to the extent of functional impairment of the ligand-receptor pair GDF5-BMPR1B.

Twitter Demographics

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Mendeley readers

The data shown below were compiled from readership statistics for 12 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 12 100%

Demographic breakdown

Readers by professional status Count As %
Professor 4 33%
Student > Doctoral Student 2 17%
Other 1 8%
Lecturer > Senior Lecturer 1 8%
Student > Ph. D. Student 1 8%
Other 3 25%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 5 42%
Medicine and Dentistry 4 33%
Pharmacology, Toxicology and Pharmaceutical Science 1 8%
Agricultural and Biological Sciences 1 8%
Nursing and Health Professions 1 8%
Other 0 0%

Attention Score in Context

This research output has an Altmetric Attention Score of 4. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 15 December 2020.
All research outputs
#5,973,455
of 19,762,584 outputs
Outputs from Orphanet Journal of Rare Diseases
#805
of 2,153 outputs
Outputs of similar age
#73,028
of 243,291 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#1
of 1 outputs
Altmetric has tracked 19,762,584 research outputs across all sources so far. This one has received more attention than most of these and is in the 69th percentile.
So far Altmetric has tracked 2,153 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.5. This one has gotten more attention than average, scoring higher than 61% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 243,291 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 68% of its contemporaries.
We're also able to compare this research output to 1 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them