Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis

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

Volumn 110, Issue 12, 2013, Pages 4667-4672

  Coste, Bertrand ^a,j   Houge, Gunnar ^b,c   Murray, Michael F ^d   Stitziel, Nathan ^d,k   Bandell, Michael ^e   Giovanni, Monica A ^d   Philippakis, Anthony ^d   Hoischen, Alexander ^b,f   Riemer, Gunnar ^g   Steen, Unni ^g   Steen, Vidar Martin ^b,c   Mathur, Jayanti ^e   Cox, James ^h   Lebo, Matthew ⁱ   Rehm, Heidi ⁱ   Weiss, Scott T ⁱ   Wood, John N ^h   Maas, Richard L ^d   Sunyaev, Shamil R ^d   Patapoutian, Ardem ^a,e  

^a SCRIPPS RESEARCH INSTITUTE   (United States)

^b HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^c UNIVERSITY OF BERGEN   (Norway)

^d BRIGHAM AND WOMEN S HOSPITAL   (United States)

^e GENOMICS INSTITUTE OF THE NOVARTIS RESEARCH FOUNDATION   (United States)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^g SUNNAAS REHABILITATION HOSPITAL   (Norway)

^h UNIVERSITY COLLEGE LONDON   (United Kingdom)

ⁱ PARTNERS HEALTHCARE   (United States)

^j University of Mediterranée   (France)

^k WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

more..

Author keywords

Congenital contractures; Neuromuscular system; Whole exome sequencing; Whole genome sequencing

Indexed keywords

CATION CHANNEL; COMPLEMENTARY DNA; PROTEIN PIEZO 2; UNCLASSIFIED DRUG;

ADULT; ARTHROGRYPOSIS; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHILD; CONTRACTURE; CONTROLLED STUDY; DISTAL ARTHROGRYPOSIS TYPE 5; ELECTROPHYSIOLOGY; EYE MOVEMENT DISORDER; FEMALE; GAIN OF FUNCTION MUTATION; GENE MUTATION; GENE OVEREXPRESSION; GENETIC ASSOCIATION; HUMAN; HUMAN CELL; HUMAN TISSUE; KNEE CRUCIATE LIGAMENT; LUNG DISEASE; MALE; MECHANOTRANSDUCTION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL;

ADULT; ARTHROGRYPOSIS; CELL LINE; FEMALE; GENETIC DISEASES, INBORN; HUMANS; INFANT; INFANT, NEWBORN; ION CHANNELS; MALE; MECHANOTRANSDUCTION, CELLULAR; MUTATION;

EID: 84875262455     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1221400110     Document Type: Article

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