(Q24599379)

Matthew Lebo

14

0 references

Alexander Hoischen

8

Alexander Hoischen

0 references

Ardem Patapoutian

20

Ardem Patapoutian

0 references

Michael Bandell

5

Michael Bandell

0 references

Jayanti Mathur

12

Jayanti Mathur

0 references

Bertrand Coste

1

Bertrand Coste

0 references

Vidar M Steen

11

Vidar Martin Steen

0 references

author name string

Gunnar Houge

2

0 references

Michael F Murray

3

0 references

Monica A Giovanni

6

0 references

Anthony Philippakis

7

0 references

Gunnar Riemer

9

0 references

Unni Steen

10

0 references

James Cox

13

0 references

Heidi Rehm

15

0 references

Scott T Weiss

16

0 references

John N Wood

17

0 references

Richard L Maas

18

0 references

Shamil R Sunyaev

Proceedings of the National Academy of Sciences of the United States of America

19

0 references

language of work or name

English

0 references

publication date

19 March 2013

0 references

published in

0 references

volume

110

0 references

issue

12

0 references

page(s)

4667-72

0 references

cites work

Piezo proteins are pore-forming subunits of mechanically activated channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607045

The role of Drosophila Piezo in mechanical nociception

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607045

Piezo1 and Piezo2 Are Essential Components of Distinct Mechanically Activated Cation Channels

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607045

Stretch-activated ion channels: what are they?

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607045

Arthrogryposis: a review and update

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607045

Fast and accurate short read alignment with Burrows-Wheeler transform

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607045

Accurate whole human genome sequencing using reversible terminator chemistry

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607045

Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607045

Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607045

dbSNP: the NCBI database of genetic variation

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607045

Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis.

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607045

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607045

Neonatal lethality in mice deficient in XCE, a novel member of the endothelin-converting enzyme and neutral endopeptidase family

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607045

The distal arthrogryposes: delineation of new entities--review and nosologic discussion

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607045

A framework for variation discovery and genotyping using next-generation DNA sequencing data

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607045

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607045

Mutations in ECEL1 cause distal arthrogryposis type 5D

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607045

The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607045

Inflammatory signals enhance piezo2-mediated mechanosensitive currents

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607045

Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607045

Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607045

Mechanotransduction gone awry

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607045

A yeast genetic screen reveals a critical role for the pore helix domain in TRP channel gating

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607045

Distal arthrogryposis type 1: clinical analysis of a large kindred

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607045

Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607045

Pulmonary disease is a component of distal arthrogryposis type 5

30 May 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1221400110

Damage-induced neuronal endopeptidase is critical for presynaptic formation of neuromuscular junctions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1221400110

Arthrogryposis and congenital absence of the anterior cruciate ligament: a case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1221400110

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1221400110

A de novo paradigm for mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1221400110

Arthrogryposis Multiplex Congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1221400110

Juvenile macular dystrophy and forearm pronation-supination restriction presenting with features of distal arthrogryposis type 5

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1221400110

Arthrogryposis multiplex congenita

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23487782

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Distal arthrogryposis 5: a dominant syndrome of peripheral contractures and ophthalmoplegia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23487782

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.1221400110

1 reference

ADS bibcode

2013PNAS..110.4667C

0 references

1 reference

1 reference

PubMed publication ID

23487782

1 reference