Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1

Blood

Volumn 121, Issue 19, 2013, Pages 3925-3935

  Andolfo, Immacolata ^a,b   Alper, Seth L ^c   De Franceschi, Lucia ^d   Auriemma, Carla ^a,b   Russo, Roberta ^a,b   De Falco, Luigia ^a,b   Vallefuoco, Fara ^a,b   Esposito, Maria Rosaria ^a,b   Vandorpe, David H ^c   Shmukler, Boris E ^c   Narayan, Rupa ^e   Montanaro, Donatella ^a   D’Armiento, Maria ^a   Vetro, Annalisa ^f   Limongelli, Ivan ^f   Zuffardi, Orsetta ^f   Glader, Bertil E ^e   Schrier, Stanley L ^e   Brugnara, Carlo ^c   Stewart, Gordon W ^g   Delaunay, Jean ^h   Iolascon, Achille ^a,b   more..

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b CEINGE BIOTECNOLOGIE AVANZATE   (Italy)

^c HARVARD MEDICAL SCHOOL   (United States)

^d UNIVERSITY OF VERONA   (Italy)

^e STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF PAVIA   (Italy)

^g UNIVERSITY COLLEGE LONDON   (United Kingdom)

^h INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CATION CHANNEL; CD34 ANTIGEN; ERYTHROPOIETIN; GLYCERALDEHYDE 3 PHOSPHATE DEHYDROGENASE; GLYCOPHORIN A; MEMBRANE PROTEIN; MESSENGER RNA; NUCLEOTIDE; PIEZO1 PROTEIN; PROTEIN; UNCLASSIFIED DRUG; ION CHANNEL; PIEZO1 PROTEIN, HUMAN;

ADULT; AMINO ACID SEQUENCE; ANIMAL CELL; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE MARROW; CATION TRANSPORT; CELL ATTACHED PATCH CLAMP; CELL DIFFERENTIATION; CELL MEMBRANE; CHROMOSOME 16Q; CLINICAL ARTICLE; CONTROLLED STUDY; DEHYDRATED HEREDITARY STOMATOCYTOSIS; EDEMA; EMBRYO DEVELOPMENT; ERYTHROCYTE MEMBRANE; ERYTHROID CELL; FEMALE; FETUS; GENE CONTROL; GENE EXPRESSION; GENE SEGREGATION; GENETIC ASSOCIATION; GENETIC CORRELATION; HEREDITARY HEMOLYTIC ANEMIA; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; IN VITRO STUDY; LIVER; MICROELECTRODE; MISSENSE MUTATION; MOUSE; MUTANT; MUTATIONAL ANALYSIS; NEWBORN DISEASE; NONHUMAN; NUCLEOTIDE SEQUENCE; OOCYTE; PERINATAL EDEMA; PLEIOTROPY; PRIORITY JOURNAL; PROTEIN FUNCTION; RAT; STOMATOCYTOSIS; VOLTAGE CLAMP TECHNIQUE; WHOLE EXOME SEQUENCING; XENOPUS LAEVIS; ANIMAL; ANIMAL EMBRYO; BIOLOGICAL MODEL; CASE REPORT; CLASSIFICATION; FETUS HYDROPS; GENE EXPRESSION REGULATION; GENETIC TRANSFECTION; GENETICS; MOLECULAR GENETICS; MUTATION; PEDIGREE; PHYSIOLOGY; SEQUENCE HOMOLOGY; TRANSGENIC MOUSE;

ADULT; AMINO ACID SEQUENCE; ANEMIA, HEMOLYTIC, CONGENITAL; ANIMALS; EMBRYO, MAMMALIAN; FEMALE; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HUMANS; HYDROPS FETALIS; ION CHANNELS; MICE; MICE, TRANSGENIC; MODELS, BIOLOGICAL; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; SEQUENCE HOMOLOGY, AMINO ACID; TRANSFECTION; XENOPUS LAEVIS;

MLCS; MLOWN;

EID: 84878716780     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2013-02-482489     Document Type: Article

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