Germ-line PHD1 and PHD2 mutations detected in patients with pheochromocytoma/paraganglioma-polycythemia

Journal of Molecular Medicine

Volumn 93, Issue 1, 2015, Pages 93-104

  Yang, Chunzhang ^a   Zhuang, Zhengping ^a   Fliedner, Stephanie M J ^b   Shankavaram, Uma ^c   Sun, Michael G ^a   Bullova, Petra ^d,e   Zhu, Roland ^a   Elkahloun, Abdel G ^f   Kourlas, Peter J ^g   Merino, Maria ^c   Kebebew, Electron ^c   Pacak, Karel ^d  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^c NATIONAL CANCER INSTITUTE   (United States)

^d EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^e INSTITUTE OF VIROLOGY   (Slovakia)

^f NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^g Department of Pharmacy   (United States)

Author keywords

Erythropoietin; Paraganglioma; Pheochromocytoma; Polycythemia

Indexed keywords

ERYTHROPOIETIN; ERYTHROPOIETIN RECEPTOR; PROTEIN; BASIC HELIX LOOP HELIX TRANSCRIPTION FACTOR; EGLN1 PROTEIN, HUMAN; EGLN2 PROTEIN, HUMAN; ENDOTHELIAL PAS DOMAIN-CONTAINING PROTEIN 1; HIF1A PROTEIN, HUMAN; HYPOXIA INDUCIBLE FACTOR 1ALPHA; HYPOXIA INDUCIBLE FACTOR PROLINE DIOXYGENASE;

ADULT; ARTICLE; CANCER PATIENT; CANCER RISK; CASE REPORT; CATALYST; CLINICAL FEATURE; CONTROLLED STUDY; ERYTHROCYTOSIS; ERYTHROID PRECURSOR CELL; FEMALE; GENE EXPRESSION REGULATION; GENETIC ASSOCIATION; GENETIC RISK; GERMLINE MUTATION; HIGH RISK PATIENT; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOXIA INDUCIBLE FACTOR 2ALPHA GENE; IN VITRO STUDY; MIDDLE AGED; PHEOCHROMOCYTOMA; PROLYL HYDROXYLASE 1 GENE; PROLYL HYDROXYLASE 2 GENE; PROTEIN DEPLETION; PROTEIN STABILITY; TUMOR GENE; GENETICS; METABOLISM; POLYCYTHEMIA;

BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; FEMALE; GERM-LINE MUTATION; HUMANS; HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; HYPOXIA-INDUCIBLE FACTOR-PROLINE DIOXYGENASES; MIDDLE AGED; PHEOCHROMOCYTOMA; POLYCYTHEMIA; RECEPTORS, ERYTHROPOIETIN;

EID: 84926681391     PISSN: 09462716     EISSN: 14321440     Source Type: Journal    
DOI: 10.1007/s00109-014-1205-7     Document Type: Article

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