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The HIF pathway and erythrocytosis

Annual review of pathology, 2011-02, Vol.6 (1), p.165-192

2011

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Erythrocytosis and Pulmonary Hypertension in a Mouse Model of Human HIF2A Gain of Function Mutation

The Journal of biological chemistry, 2013-06, Vol.288 (24), p.17134-17144

2013

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Molecular diagnostics of myeloproliferative neoplasms

European journal of haematology, 2015-10, Vol.95 (4), p.270-279

2015

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A Family with Erythrocytosis Establishes a Role for Prolyl Hydroxylase Domain Protein 2 in Oxygen Homeostasis

Proceedings of the National Academy of Sciences - PNAS, 2006-01, Vol.103 (3), p.654-659

2006

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A Knock-in Mouse Model of Human PHD2 Gene-associated Erythrocytosis Establishes a Haploinsufficiency Mechanism

The Journal of biological chemistry, 2013-11, Vol.288 (47), p.33571-33584

2013

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Mutation of von Hippel-Lindau tumour suppressor and human cardiopulmonary physiology

PLoS medicine, 2006-07, Vol.3 (7), p.e290

2006

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Recessive congenital methaemoglobinaemia: cytochrome b(5) reductase deficiency

British journal of haematology, 2008-05, Vol.141 (3), p.298-308

2008

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Familial erythrocytosis: molecular links to red blood cell control

Haematologica (Roma), 2008-07, Vol.93 (7), p.963-967

2008

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Potential prognostic marker ubiquitin carboxyl-terminal hydrolase-L1 does not predict patient survival in non-small cell lung carcinoma

Journal of experimental & clinical cancer research, 2011-08, Vol.30 (1), p.79-79, Article 79

2011

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Regulation of human metabolism by hypoxia-inducible factor

Proceedings of the National Academy of Sciences - PNAS, 2010-07, Vol.107 (28), p.12722-12727

2010

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A common polymorphism in the oxygen-dependent degradation (ODD) domain of hypoxia inducible factor-1α (HIF-1α) does not impair Pro-564 hydroxylation

Molecular cancer, 2003-09, Vol.2 (1), p.31-31

2003

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Cardiopulmonary function in two human disorders of the hypoxia‐inducible factor (HIF) pathway: von Hippel‐Lindau disease and HIF‐2α gain‐of‐function mutation

The FASEB journal, 2011-06, Vol.25 (6), p.2001-2011

2011

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Oxygen Sensing: Recent Insights from Idiopathic Erythrocytosis

Cell cycle (Georgetown, Tex.), 2006-05, Vol.5 (9), p.941-945

2006

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Erythropoietin-induced activation of the JAK2/STAT5, PI3K/Akt, and Ras/ERK pathways promotes malignant cell behavior in a modified breast cancer cell line

Molecular cancer research, 2010-04, Vol.8 (4), p.615-626

2010

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Erythrocytosis-associated HIF-2α Mutations Demonstrate a Critical Role for Residues C-terminal to the Hydroxylacceptor Proline

The Journal of biological chemistry, 2009-04, Vol.284 (14), p.9050-9058

2009

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DEK oncogene expression during normal hematopoiesis and in Acute Myeloid Leukemia (AML)

Blood cells, molecules, & diseases, 2015-01, Vol.54 (1), p.123-131

2015

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Erythrocytosis in children and adolescents-classification, characterization, and consensus recommendations for the diagnostic approach

Pediatric blood & cancer, 2013-11, Vol.60 (11), p.1734-1738

2013

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Methemoglobin reductase deficiency: novel mutation is associated with a disease phenotype of intermediate severity

Journal of pediatric hematology/oncology, 2012-08, Vol.34 (6), p.457-460

2012

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The role of PHD2 mutations in the pathogenesis of erythrocytosis

Hypoxia, 2014-01, Vol.2, p.71-90

2014

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Chuvash-type congenital polycythemia in 4 families of Asian and Western European ancestry

Blood, 2003-08, Vol.102 (3), p.1097-1099

2003

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Molecular heterogeneity of familial myeloproliferative neoplasms revealed by analysis of the commonly acquired JAK2, CALR and MPL mutations

Familial cancer, 2014-12, Vol.13 (4), p.659-663

2014

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Familial erythrocytosis arising from a gain-of-function mutation in the HIF2A gene of the oxygen sensing pathway

Ulster medical journal, 2008-05, Vol.77 (2), p.86-88

Percy, Melanie J

2008

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The worldwide distribution of the VHL 598C>T mutation indicates a single founding event

Blood, 2004-03, Vol.103 (5), p.1937-1940

2004

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Chronic neutrophilic leukemia with an associated V617F JAK2 tyrosine kinase mutation

Haematologica (Roma), 2005-12, Vol.90 (12), p.1696

2005

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The HIF pathway and erythrocytosis

Erythrocytosis and Pulmonary Hypertension in a Mouse Model of Human HIF2A Gain of Function Mutation

Molecular diagnostics of myeloproliferative neoplasms

A Family with Erythrocytosis Establishes a Role for Prolyl Hydroxylase Domain Protein 2 in Oxygen Homeostasis

A Knock-in Mouse Model of Human PHD2 Gene-associated Erythrocytosis Establishes a Haploinsufficiency Mechanism

Mutation of von Hippel-Lindau tumour suppressor and human cardiopulmonary physiology

Recessive congenital methaemoglobinaemia: cytochrome b(5) reductase deficiency

Familial erythrocytosis: molecular links to red blood cell control

Potential prognostic marker ubiquitin carboxyl-terminal hydrolase-L1 does not predict patient survival in non-small cell lung carcinoma

Regulation of human metabolism by hypoxia-inducible factor

A common polymorphism in the oxygen-dependent degradation (ODD) domain of hypoxia inducible factor-1α (HIF-1α) does not impair Pro-564 hydroxylation

Cardiopulmonary function in two human disorders of the hypoxia‐inducible factor (HIF) pathway: von Hippel‐Lindau disease and HIF‐2α gain‐of‐function mutation

Oxygen Sensing: Recent Insights from Idiopathic Erythrocytosis

Erythropoietin-induced activation of the JAK2/STAT5, PI3K/Akt, and Ras/ERK pathways promotes malignant cell behavior in a modified breast cancer cell line

Erythrocytosis-associated HIF-2α Mutations Demonstrate a Critical Role for Residues C-terminal to the Hydroxylacceptor Proline

DEK oncogene expression during normal hematopoiesis and in Acute Myeloid Leukemia (AML)

International external quality assurance of JAK2 V617F quantification

Erythrocytosis in children and adolescents-classification, characterization, and consensus recommendations for the diagnostic approach

Methemoglobin reductase deficiency: novel mutation is associated with a disease phenotype of intermediate severity

The role of PHD2 mutations in the pathogenesis of erythrocytosis

Chuvash-type congenital polycythemia in 4 families of Asian and Western European ancestry

Molecular heterogeneity of familial myeloproliferative neoplasms revealed by analysis of the commonly acquired JAK2, CALR and MPL mutations

Familial erythrocytosis arising from a gain-of-function mutation in the HIF2A gene of the oxygen sensing pathway

The worldwide distribution of the VHL 598C>T mutation indicates a single founding event

Chronic neutrophilic leukemia with an associated V617F JAK2 tyrosine kinase mutation

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