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Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia

Overview of attention for article published in Nature Communications, September 2015
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Title
Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia
Published in
Nature Communications, September 2015
DOI 10.1038/ncomms9329
Pubmed ID
Authors

Viktor Lukacs, Jayanti Mathur, Rong Mao, Pinar Bayrak-Toydemir, Melinda Procter, Stuart M. Cahalan, Helen J. Kim, Michael Bandell, Nicola Longo, Ronald W. Day, David A. Stevenson, Ardem Patapoutian, Bryan L. Krock

Abstract

Piezo1 ion channels are mediators of mechanotransduction in several cell types including the vascular endothelium, renal tubular cells and erythrocytes. Gain-of-function mutations in PIEZO1 cause an autosomal dominant haemolytic anaemia in humans called dehydrated hereditary stomatocytosis. However, the phenotypic consequence of PIEZO1 loss of function in humans has not previously been documented. Here we discover a novel role of this channel in the lymphatic system. Through whole-exome sequencing, we identify biallelic mutations in PIEZO1 (a splicing variant leading to early truncation and a non-synonymous missense variant) in a pair of siblings affected with persistent lymphoedema caused by congenital lymphatic dysplasia. Analysis of patients' erythrocytes as well as studies in a heterologous system reveal greatly attenuated PIEZO1 function in affected alleles. Our results delineate a novel clinical category of PIEZO1-associated hereditary lymphoedema.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 160 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 2 1%
Italy 1 <1%
Unknown 157 98%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 42 26%
Researcher 28 18%
Student > Bachelor 13 8%
Student > Doctoral Student 10 6%
Student > Master 9 6%
Other 25 16%
Unknown 33 21%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 39 24%
Agricultural and Biological Sciences 26 16%
Medicine and Dentistry 19 12%
Neuroscience 15 9%
Engineering 3 2%
Other 22 14%
Unknown 36 23%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 2. 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 20 June 2022.
All research outputs
#15,058,486
of 23,915,168 outputs
Outputs from Nature Communications
#43,450
of 50,480 outputs
Outputs of similar age
#145,614
of 277,803 outputs
Outputs of similar age from Nature Communications
#610
of 753 outputs
Altmetric has tracked 23,915,168 research outputs across all sources so far. This one is in the 34th percentile – i.e., 34% of other outputs scored the same or lower than it.
So far Altmetric has tracked 50,480 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 56.2. This one is in the 12th percentile – i.e., 12% of its peers scored the same or lower than it.
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 277,803 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 44th percentile – i.e., 44% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 753 others from the same source and published within six weeks on either side of this one. This one is in the 17th percentile – i.e., 17% of its contemporaries scored the same or lower than it.