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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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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 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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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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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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Arrested Differentiation in Acute Myeloid Leukemia (AML) with Silenced Ankyrin Repeat and SOCS Box Protein 3 (ASB3) Expression

Blood, 2012-11, Vol.120 (21), p.1232-1232

2012

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

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

2013

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A novel splicing site IRP1 somatic mutation in a patient with pheochromocytoma and JAK2 V617F positive polycythemia vera: a case report

BMC cancer, 2018-03, Vol.18 (1), p.1-6

2018

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Erythrocytosis-associated HIF-2{alpha} 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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Erythrocytosis-associated HIF-2Î± 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

2009

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A novel Pro92His, and previously described, Glu255‐, double mutation of NADH‐cytochrome b5 reductase associated with apparent type I RCM

The FASEB journal, 2007, Vol.21 (6), p.A1044-A1044

2007

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Erythrocytosis Caused by Mutations in the PHD2 and VHL Genes

Blood, 2007-11, Vol.110 (11), p.3663-3663

2007

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A Novel HIFalpha Mutation Associated with Familial Erythrocytosis Supports This Isoform Being the Major Regulator of Erythropoietin in Humans

Blood, 2007-11, Vol.110 (11), p.LB5-LB5

2007

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A genetic disease in humans demonstrates the importance of hypoxia‐inducible factor in skeletal muscle metabolism

The FASEB journal, 2009-04, Vol.23 (S1)

2009

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A Gain-of-Function Mutation in the HIF2A Gene in Familial ErythrocytosisBrief Report

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

2008

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Mutations in the VHL Gene Are the Major Identified Cause of Inherited Erythrocytosis

Blood, 2005-11, Vol.106 (11), p.569-569

2005

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A Novel Heterologous Expression System for Characterization of Individual NADH-Cytochrome b5 Reductase Variants in Recessive Congenital Methemoglobinemia

Blood, 2005-11, Vol.106 (11), p.1676-1676

2005

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Familial Erythrocytosis Associated with a Mutation in the HIF Prolyl Hydroxylase, PHD2

Blood, 2005-11, Vol.106 (11), p.127-127

2005

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

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

2004

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Expression and mutational analyses of the humanMAD2L1 gene in breast cancer cells

Genes chromosomes & cancer, 2000-12, Vol.29 (4), p.356-362

2000

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Intracellular antigenic changes associated with meiosis in the orthopteranStauroderus scalaris

Experimental cell research, 1991-11, Vol.197 (1), p.113-118

1991

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Erythrocytosis and the Chuvash von Hippel-Lindau mutation

British journal of haematology, 2003, Vol.123 (2), p.371-372

2003

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Recessive congenital methaemoglobinaemia: cytochrome b5 reductase deficiency

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

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

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

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

Arrested Differentiation in Acute Myeloid Leukemia (AML) with Silenced Ankyrin Repeat and SOCS Box Protein 3 (ASB3) Expression

Recessive congenital methaemoglobinaemia: cytochrome b 5 reductase deficiency

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

A novel splicing site IRP1 somatic mutation in a patient with pheochromocytoma and JAK2 V617F positive polycythemia vera: a case report

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

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

A novel Pro92His, and previously described, Glu255‐, double mutation of NADH‐cytochrome b5 reductase associated with apparent type I RCM

Erythrocytosis Caused by Mutations in the PHD2 and VHL Genes

A Novel HIFalpha Mutation Associated with Familial Erythrocytosis Supports This Isoform Being the Major Regulator of Erythropoietin in Humans

A genetic disease in humans demonstrates the importance of hypoxia‐inducible factor in skeletal muscle metabolism

A Gain-of-Function Mutation in the HIF2A Gene in Familial ErythrocytosisBrief Report

Mutations in the VHL Gene Are the Major Identified Cause of Inherited Erythrocytosis

A Novel Heterologous Expression System for Characterization of Individual NADH-Cytochrome b5 Reductase Variants in Recessive Congenital Methemoglobinemia

Familial Erythrocytosis Associated with a Mutation in the HIF Prolyl Hydroxylase, PHD2

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

Expression and mutational analyses of the humanMAD2L1 gene in breast cancer cells

Intracellular antigenic changes associated with meiosis in the orthopteranStauroderus scalaris

Erythrocytosis and the Chuvash von Hippel-Lindau mutation

Reduced mitochondrial resilience enables non-canonical induction of apoptosis after TNF receptor signaling in virus-infected hepatocytes

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