Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia

Haematologica

Volumn 97, Issue 1, 2012, Pages 9-14

  Ladroue, Charline ^a   Hoogewijs, David ^b   Gad, Sophie ^a   Carcenac, Romain ^a   Storti, Federica ^b   Barrois, Michel ^c   Gimenez Roqueplo, Anne Paule ^d   Leporrier, Michel ^e   Casadevall, Nicole ^f   Hermine, Olivier ^g   Kiladjian, Jean Jacques ^h   Baruchel, André ^h   Fakhoury, Fadi ^g   Bressac de Paillerets, Brigitte ^c,i   Feunteun, Jean ^j   Mazure, Nathalie ^k   Pouysségur, Jacques ^k   Wenger, Roland H ^b   Richard, Stéphane ^a,g   Gardie, Betty ^a  

^a INSERM   (France)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c INSTITUT GUSTAVE ROUSSY   (France)

^d HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^e CAEN UNIVERSITY HOSPITAL   (France)

^f HÔPITAL SAINT ANTOINE   (France)

^g HÔPITAL NECKER ENFANTS MALADES   (France)

^h SAINT LOUIS HOSPITAL   (France)

ⁱ FONDATION JEAN DAUSSET CEPH   (France)

^j CNRS   (France)

^k CENTRE DE BIOCHIMIE   (France)

more..

Author keywords

Erythro cytosis; Hypoxia inducible factor; Hypoxia inducible transcription factor; PHD2

Indexed keywords

DNA; HYPOXIA INDUCIBLE FACTOR;

ADULT; AGED; ARTICLE; CARCINOGENESIS; CLINICAL ARTICLE; COMPARATIVE STUDY; CONTROLLED STUDY; ERYTHROCYTOSIS; FEMALE; GENE; GENE IDENTIFICATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; HYDROXYLATION; IN VITRO STUDY; MALE; PARAGANGLIOMA; PHD2 GENE; POLYCYTHEMIA; PROTEIN FUNCTION; PROTEIN STABILITY; REGULATORY MECHANISM; REPORTER GENE;

ADOLESCENT; ADULT; BASE SEQUENCE; CELLS, CULTURED; FEMALE; GERM-LINE MUTATION; HEK293 CELLS; HUMANS; HYDROLYSIS; HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; MALE; MIDDLE AGED; MUTANT PROTEINS; POLYCYTHEMIA; PROCOLLAGEN-PROLINE DIOXYGENASE; YOUNG ADULT;

EID: 84855244025     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2011.044644     Document Type: Article

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