A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss

Blood

Volumn 127, Issue 23, 2016, Pages 2903-2914

  Stritt, Simon ^a   Nurden, Paquita ^b,c   Turro, Ernest ^d,e,f,g   Greene, Daniel ^d,f,g   Jansen, Sjoert B ^d,e   Westbury, Sarah K ^h   Petersen, Romina ^d,e   Astle, William J ^d,e,f   Marlin, Sandrine ⁱ   Bariana, Tadbir K ^j,k   Kostadima, Myrto ^d,e   Lentaigne, Claire ^l,m   Maiwald, Stephanie ^d,e   Papadia, Sofia ^d,g   Kelly, Anne M ^d,e   Stephens, Jonathan C ^d,e   Penkett, Christopher J ^d,g   Ashford, Sofie ^d,g   Tuna, Salih ^d,g   Austin, Steve ⁿ   Bakchoul, Tamam ^o   Collins, Peter ^p   Favier, Rémi ^q,r   Lambert, Michele P ^s,t   Mathias, Mary ^u   Millar, Carolyn M ^l,m   Mapeta, Rutendo ^d,g   Perry, David J ^v   Schulman, Sol ^w   Simeoni, Ilenia ^d,g   Thys, Chantal ^x   Gomez, Keith ^k   Erber, Wendy N ^y   Stirrups, Kathleen ^d,g   Rendon, Augusto ^z   Bradley, John R ^e,g   Van Geet, Chris ^x   Raymond, F Lucy ^g,aa   Laffan, Michael A ^l,m   Nurden, Alan T ^b,c   Nieswandt, Bernhard ^a   Richardson, Sylvia ^f   Freson, Kathleen ^x   Ouwehand, Willem H ^d,e,g,ab   Mumford, Andrew D ^h   more..

^a UNIVERSITY HOSPITAL WÜRZBURG   (Germany)

^b Bordeaux Segalen University   (France)

^c TIMONE HOSPITAL   (France)

^d UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^e NHS BLOOD AND TRANSPLANT   (United Kingdom)

^f UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^g CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^h UNIVERSITY OF BRISTOL   (United Kingdom)

ⁱ HÔPITAL NECKER ENFANTS MALADES   (France)

^j UNIVERSITY COLLEGE LONDON   (United Kingdom)

^k ROYAL FREE LONDON NHS FOUNDATION TRUST   (United Kingdom)

^l IMPERIAL COLLEGE LONDON   (United Kingdom)

^m IMPERIAL COLLEGE HEALTHCARE NHS TRUST   (United Kingdom)

ⁿ GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^o UNIVERSITY MEDICINE GREIFSWALD   (Germany)

^p CARDIFF UNIVERSITY SCHOOL OF MEDICINE   (United Kingdom)

^q ARMAND TROUSSEAU HOSPITAL   (France)

^r Universite Paris Sud   (France)

^s CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^t UNIVERSITY OF PENNSYLVANIA   (United States)

^u GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^v ADDENBROOKE S HOSPITAL   (United Kingdom)

^w HARVARD MEDICAL SCHOOL   (United States)

^x UNIVERSITY OF LEUVEN   (Belgium)

^y UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^z GENOMICS ENGLAND   (United Kingdom)

^aa UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^ab WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CONDUCTION DEAFNESS; DIAPHANOUS RELATED FORMIN 1 GENE; FEMALE; GAIN OF FUNCTION MUTATION; GENE; GENE OVEREXPRESSION; GENETIC VARIABILITY; HEARING IMPAIRMENT; HEMATOPOIETIC STEM CELL; HUMAN; HUMAN CELL; MALE; PERCEPTION DEAFNESS; PRIORITY JOURNAL; THROMBOCYTOPENIA; WHOLE EXOME SEQUENCING; A-549 CELL LINE; ADOLESCENT; ADULT; AGED; CASE CONTROL STUDY; CELL CULTURE; CHILD; COMPLICATION; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; HEK293 CELL LINE; MIDDLE AGED; MUTATION; PEDIGREE; SINGLE NUCLEOTIDE POLYMORPHISM; SYNDROME; YOUNG ADULT;

DIAPH1 PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

A549 CELLS; ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; ADULT; AGED; CASE-CONTROL STUDIES; CELLS, CULTURED; CHILD; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HEARING LOSS; HEK293 CELLS; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SYNDROME; THROMBOCYTOPENIA; YOUNG ADULT;

EID: 84960137489     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2015-10-675629     Document Type: Article

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