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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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Recessive congenital methaemoglobinaemia: cytochrome b5 reductase deficiency

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

2008

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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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A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove

Blood, 2007-09, Vol.110 (6), p.2193-2196

2007

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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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The JAK2 46/1 haplotype predisposes to MPL-mutated myeloproliferative neoplasms

Blood, 2010-06, Vol.115 (22), p.4517-4523

2010

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The myeloproliferative disorder–associated JAK2 V617F mutant escapes negative regulation by suppressor of cytokine signaling 3

Blood, 2007-06, Vol.109 (11), p.4924-4929

2007

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Erythrocytosis associated with a novel missense mutation in the HIF2A gene

Haematologica (Roma), 2010-05, Vol.95 (5), p.829-832

2010

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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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Tibetan PHD2, an allele with loss-of-function properties

Proceedings of the National Academy of Sciences - PNAS, 2020-06, Vol.117 (22), p.12230-12238

2020

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A Gain-of-Function Mutation in the HIF2A Gene in Familial Erythrocytosis

The New England journal of medicine, 2008-01, Vol.358 (2), p.162-168

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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Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis

Blood, 2008-06, Vol.111 (11), p.5400-5402

2008

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Polycythaemia‐inducing mutations in the erythropoietin receptor (EPOR): mechanism and function as elucidated by epidermal growth factor receptor–EPOR chimeras

British journal of haematology, 2014-05, Vol.165 (4), p.519-528

2014

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A novel splicing site IRP1 somatic mutation in a patient with pheochromocytoma and JAK2V617F positive polycythemia vera: a case report

BMC cancer, 2018-03, Vol.18 (1), p.286-286, Article 286

2018

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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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Genetic origins and clinical phenotype of familial and acquired erythrocytosis and thrombocytosis

American journal of hematology, 2009-01, Vol.84 (1), p.46-54

2009

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A nonsynonymous LNK polymorphism associated with idiopathic erythrocytosis

American journal of hematology, 2011-11, Vol.86 (11), p.962-964

2011

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The frequency of JAK2 exon 12 mutations in idiopathic erythrocytosis patients with low serum erythropoietin levels

Haematologica (Roma), 2007-12, Vol.92 (12), p.1607-1614

2007

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Identification of high oxygen affinity hemoglobin variants in the investigation of patients with erythrocytosis

Haematologica (Roma), 2009-09, Vol.94 (9), p.1321-1322

2009

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

Recessive congenital methaemoglobinaemia: cytochrome b5 reductase deficiency

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

A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove

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

The JAK2 46/1 haplotype predisposes to MPL-mutated myeloproliferative neoplasms

The myeloproliferative disorder–associated JAK2 V617F mutant escapes negative regulation by suppressor of cytokine signaling 3

Erythrocytosis associated with a novel missense mutation in the HIF2A gene

Recessive congenital methaemoglobinaemia: cytochrome b(5) reductase deficiency

Tibetan PHD2, an allele with loss-of-function properties

A Gain-of-Function Mutation in the HIF2A Gene in Familial Erythrocytosis

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

Hypoxia-inducible factor 2α regulates key neutrophil functions in humans, mice, and zebrafish

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

Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis

Polycythaemia‐inducing mutations in the erythropoietin receptor (EPOR): mechanism and function as elucidated by epidermal growth factor receptor–EPOR chimeras

A novel splicing site IRP1 somatic mutation in a patient with pheochromocytoma and JAK2V617F positive polycythemia vera: a case report

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

Genetic origins and clinical phenotype of familial and acquired erythrocytosis and thrombocytosis

A nonsynonymous LNK polymorphism associated with idiopathic erythrocytosis

The frequency of JAK2 exon 12 mutations in idiopathic erythrocytosis patients with low serum erythropoietin levels

Identification of high oxygen affinity hemoglobin variants in the investigation of patients with erythrocytosis

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