Analysis of the oxygen sensing pathway genes in familial chronic myeloproliferative neoplasms and identification of a novel EGLN1 germ-line mutation

被引：16

作者：

Albiero, Elena ^{[1
]}

Ruggeri, Marco ^{[1
]}

Fortuna, Stefania ^{[1
]}

Bernardi, Martina ^{[1
]}

Finotto, Silvia ^{[1
]}

Madeo, Domenico ^{[1
]}

Rodeghiero, Francesco ^{[1
]}

机构：

[1] San Bortolo Hosp, Dept Cellular Therapies & Haematol, Vicenza, Italy

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2011年 / 153卷 / 03期

关键词：

chronic myeloproliferative neoplasms; oxygen sensing pathway; genetic lesion; EGLN1; JAK2; JAK2; ERYTHROCYTOSIS; DISORDERS;

D O I：

10.1111/j.1365-2141.2010.08551.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：405 / 408

页数：4

共 10 条

[1] Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders [J].

Baxter, EJ ;

Scott, LM ;

Campbell, PJ ;

East, C ;

Fourouclas, N ;

Swanton, S ;

Vassiliou, GS ;

Bench, AJ ;

Boyd, EM ;

Curtin, N ;

Scott, MA ;

Erber, WN ;

Green, AR .

LANCET, 2005, 365 (9464) :1054-1061

[2] Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders [J].

Bellanne-Chantelot, Christine ;

Chaumarel, Isabelle ;

Labopin, Myriarn ;

Bellanger, Florence ;

Barbu, Veronique ;

De Toma, Claudia ;

Delhommeau, Frangois ;

Casadevall, Nicole ;

Vainchenker, William ;

Thomas, Gilles ;

Najman, Albert .

BLOOD, 2006, 108 (01) :346-352

[3] Isolated erythrocytosis in V617F negative patients with JAK2 exon 12 mutations: Report of a new mutation [J].

Bernardi, Martina ;

Ruggeri, Marco ;

Albiero, Elena ;

Madeo, Domenico ;

Rodeghiero, Francesco .

AMERICAN JOURNAL OF HEMATOLOGY, 2009, 84 (04) :258-260

[4] Molecular basis and clonal evolution of myeloproliferative neoplasms [J].

Jaeger, Roland ;

Kralovics, Robert .

HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2010, 95 (04) :526-529

[5] Increased risks of polycythemia vera, essential thrombocythemia, and myelofibrosis among 24 577 first-degree relatives of 11 039 patients with myeloproliferative neoplasms in Sweden [J].

Landgren, Ola ;

Goldin, Lynn R. ;

Kristinsson, Sigurdur Y. ;

Helgadottir, Elin A. ;

Samuelsson, Jan ;

Bjorkholm, Magnus .

BLOOD, 2008, 112 (06) :2199-2204

[6] Genetic causes of erythrocytosis and the oxygen-sensing pathway [J].

Lee, Frank S. .

BLOOD REVIEWS, 2008, 22 (06) :321-332

[7] Novel mutations in the inhibitory adaptor protein LNK drive JAK-STAT signaling in patients with myeloproliferative neoplasms [J].

Oh, Stephen T. ;

Simonds, Erin F. ;

Jones, Carol ;

Hale, Matthew B. ;

Goltsev, Yury ;

Gibbs, Kenneth D., Jr. ;

Merker, Jason D. ;

Zehnder, James L. ;

Nolan, Garry P. ;

Gotlib, Jason .

BLOOD, 2010, 116 (06) :988-992

[8] Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1 [J].

Tefferi, A. .

LEUKEMIA, 2010, 24 (06) :1128-1138

[9]

Vardiman JW., 2008, WHO CLASSIFICATION T

[10] Identification of a region on hypoxia-inducible-factor prolyl 4-hydroxylases that determines their specificity for the oxygen degradation domains [J].

Villar, Diego ;

Vara-Vega, Alicia ;

Landazuri, Manuel O. ;

Del Peso, Luis .

BIOCHEMICAL JOURNAL, 2007, 408 :231-240

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