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

Nature Communications

Volumn 6, Issue , 2015, Pages

  Lukacs, Viktor ^a   Mathur, Jayanti ^b   Mao, Rong ^c,d   Bayrak Toydemir, Pinar ^c,d   Procter, Melinda ^c   Cahalan, Stuart M ^a   Kim, Helen J ^e   Bandell, Michael ^b   Longo, Nicola ^d   Day, Ronald W ^d   Stevenson, David A ^d,f   Patapoutian, Ardem ^a   Krock, Bryan L ^c,d,g,h  

^a HOWARD HUGHES MEDICAL INSTITUTE   (United States)

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

^c ARUP INSTITUTE FOR CLINICAL AND EXPERIMENTAL PATHOLOGY   (United States)

^d UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^e SCRIPPS RESEARCH INSTITUTE   (United States)

^f STANFORD UNIVERSITY   (United States)

^g CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^h UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CATION CHANNEL; PIEZO1 ION CHANNEL; UNCLASSIFIED DRUG; ION CHANNEL; PIEZO1 PROTEIN, HUMAN;

ALLELE; ANEMIA; CYTOLOGY; ION; MUTATION; PHENOTYPE;

ARTICLE; AUTOSOMAL RECESSIVE CONGENITAL LYMPHATIC DYSPLASIA; CONTROLLED STUDY; DYSPLASIA; ERYTHROCYTE; GENE MUTATION; HEREDITARY LYMPHEDEMA; HIGH THROUGHPUT SEQUENCING; HUMAN; LYMPHATIC SYSTEM DISEASE; LYMPHEDEMA; SEQUENCE ANALYSIS; SIBLING; AMINO ACID SEQUENCE; CHEMISTRY; FEMALE; FETUS HYDROPS; GENETICS; HEREDITARY HEMOLYTIC ANEMIA; INFANT; MALE; METABOLISM; MISSENSE MUTATION; MOLECULAR GENETICS; MUTATION; PRESCHOOL CHILD; RECESSIVE GENE; SEQUENCE ALIGNMENT;

AMINO ACID SEQUENCE; ANEMIA, HEMOLYTIC, CONGENITAL; CHILD, PRESCHOOL; ERYTHROCYTES; FEMALE; GENES, RECESSIVE; HUMANS; HYDROPS FETALIS; INFANT; ION CHANNELS; LYMPHATIC DISEASES; MALE; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; SEQUENCE ALIGNMENT;

EID: 84942133663     PISSN: None     EISSN: 20411723     Source Type: Journal    
DOI: 10.1038/ncomms9329     Document Type: Article

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