Genetic basis of congenital erythrocytosis: mutation update and online databases (Q42622691)

3 November 2017

Genetic basis of congenital erythrocytosis: mutation update and online databases (English)

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3 November 2017

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Maria Leticia Ribeiro

Maria Leticia Ribeiro

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Fulvio Della Ragione

Fulvio Della Ragione

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Cristina Fraga

Cristina Fraga

36

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Celeste Bento

Celeste Bento

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Milen Minkov

Milen Minkov

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Jan Palmblad

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Jan Palmblad

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Susanne Schnittger

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Melanie J Percy

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Betty Gardie

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Tabita Magalhães Maia

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Richard van Wijk

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Silverio Perrotta

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Helena Almeida

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Cedric Rossi

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François Girodon

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Maria Aström

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Drorit Neumann

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Britta Landin

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Maria Luigia Randi

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Stéphane Richard

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Nicole Casadevall

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William Vainchenker

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Susana Rives

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Sylvie Hermouet

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M Leticia Ribeiro

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Mary Frances McMullin

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Holger Cario

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ECE-Consortium

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3 November 2017

Aurelie Chauveau

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Anne-Paule Gimenez-Roqueplo

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Brigitte Bressac-de-Paillerets

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Didem Altindirek

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Felipe Lorenzo

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Frederic Lambert

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Harlev Dan

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Sophie Gad-Lapiteau

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Ana Catarina Oliveira

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Cédric Rossi

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Gennadiy Taradin

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Guillermo Martin-Nuñez

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Helena Vitória

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Herrera Diaz Aguado

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Julia Vidán

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Luis Relvas

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Maria Luigi Larocca

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Maria Luigia Randi

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Maria Pedro Silveira

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Melanie Percy

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Mor Gross

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Ricardo Marques da Costa

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Soheir Beshara

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Tal Ben-Ami

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Valérie Ugo

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ECE-Consortium

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22 October 2013

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published in

Human Mutation

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3 November 2017

35

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3 November 2017

15-26

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3 November 2017

1

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Isolated erythrocytosis: study of 67 patients and identification of three novel germ-line mutations in the prolyl hydroxylase domain protein 2 (PHD2) gene

3 November 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Endemic polycythemia in Russia: mutation in the VHL gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

A novel mutation in the erythropoietin receptor gene is associated with familial erythrocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Mutation analysis of HIF prolyl hydroxylases (PHD/EGLN) in individuals with features of phaeochromocytoma and renal cell carcinoma susceptibility

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Primary familial congenital erythrocytosis: two novel EPOR mutations found in Spain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Polycythemia associated with a hemoglobinopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Pulmonary artery pressure and iron deficiency in patients with upregulation of hypoxia sensing due to homozygous VHL(R200W) mutation (Chuvash polycythemia).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Genetic and epigenetic complexity in myeloproliferative neoplasms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

21 January 2018

Mutation nomenclature

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Idiopathic erythrocytosis and other non-clonal polycythemias

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

LOVD v.2.0: the next generation in gene variant databases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Regulation of human metabolism by hypoxia-inducible factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Autosomal dominant erythrocytosis and pulmonary arterial hypertension associated with an activating HIF2 alpha mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Vascular complications in Chuvash polycythemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Hypoxic regulation of erythropoiesis and iron metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Erythrocytosis due to bisphosphoglycerate mutase deficiency with concurrent glucose-6-phosphate dehydrogenase (G-6-PD) deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Advances in understanding the pathogenesis of primary familial and congenital polycythaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

pVHL19 is a biologically active product of the von Hippel-Lindau gene arising from internal translation initiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Induction of human endometrial cancer cell senescence through modulation of HIF-1alpha activity by EGLN1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Absence of polycythemia in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Genetic heterogeneity of primary familial and congenital polycythemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Molecular responses to hypoxia in tumor cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

PHD2 mutation and congenital erythrocytosis with paraganglioma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Genetic causes of erythrocytosis and the oxygen-sensing pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

The HIF pathway and erythrocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

A novel heterozygous HIF2AM535I mutation reinforces the role of oxygen sensing pathway disturbances in the pathogenesis of familial erythrocytosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Guidelines for the diagnosis, investigation and management of polycythaemia/erythrocytosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Cellular oxygen sensing in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

A truncated erythropoietin receptor that fails to prevent programmed cell death of erythroid cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Mutations in the VHL gene in sporadic apparently congenital polycythemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

The complete evaluation of erythrocytosis: congenital and acquired

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

A gain-of-function mutation in the HIF2A gene in familial erythrocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Two new mutations in the HIF2A gene associated with erythrocytosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Retracted: EPO Receptor Gain-of-Function Causes Hereditary Polycythemia, Alters CD34+ Cell Differentiation and Increases Circulating Endothelial Precursors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Congenital erythrocytosis associated with gain-of-function HIF2A gene mutations and erythropoietin levels in the normal range

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Erythropoietin receptor defect: a cause of primary polycythaemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

In vitro and in vivo models analyzing von Hippel-Lindau disease-specific mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

The first case of a complete deficiency of diphosphoglycerate mutase in human erythrocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Loss of JAK2 regulation via a heterodimeric VHL-SOCS1 E3 ubiquitin ligase underlies Chuvash polycythemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

The HIF family member EPAS1/HIF-2α is required for normal hematopoiesis in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Hemoglobin variants: biochemical properties and clinical correlates

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Familial and congenital polycythemias: a diagnostic approach

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Erythrocytosis associated with a novel missense mutation in the HIF2A gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Hypoxia-inducible factor 1 is a basic-helix-loop-helix-PAS heterodimer regulated by cellular O2 tension

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

VHL mutation analysis in patients with isolated central nervous system haemangioblastoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Novel HIF2A mutations disrupt oxygen sensing, leading to polycythemia, paragangliomas, and somatostatinomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Hypoxic induction of human erythroid-specific δ-aminolevulinate synthase mediated by hypoxia-inducible factor 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Hypoxia-inducible factor 1-mediated human GATA1 induction promotes erythroid differentiation under hypoxic conditions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

Molecular genetic analyses in familial and sporadic congenital primary erythrocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

7 January 2021

A study of 36 unrelated cases with pure erythrocytosis revealed three new mutations in the erythropoietin receptor gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

7 January 2021

Oxygenation of hemoglobin in the presence of 2,3-diphosphoglycerate. Effect of temperature, pH, ionic strength, and hemoglobin concentration

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

7 January 2021

Hb Vila Real [beta36(C2)Pro-->His]: a newly discovered high oxygen affinity variant

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

7 January 2021

Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

7 January 2021

Von hippel-lindau disease and erythrocytosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

7 January 2021

HIF2AMutations in Paraganglioma with Polycythemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

7 January 2021

Primary familial polycythaemia associated with a novel point mutation in the erythropoietin receptor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

7 January 2021

High hemoglobin levels during pregnancy and fetal risk

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

7 January 2021

Identification of a hypoxia response element in the transferrin receptor gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

7 January 2021

The worldwide distribution of the VHL 598C&gt;T mutation indicates a single founding event

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

7 January 2021

A novel mutation of the erythropoietin receptor gene associated with primary familial and congenital polycythaemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

7 January 2021

Familial polycythemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

7 January 2021

Haemoglobin Radcliffe (alpha2beta299(Gi)Ala): a high oxygen-affinity variant causing familial polycythaemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

7 January 2021

Differentiating the functional role of hypoxia-inducible factor (HIF)-1alpha and HIF-2alpha (EPAS-1) by the use of RNA interference: erythropoietin is a HIF-2alpha target gene in Hep3B and Kelly cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22448

7 January 2021

Identifiers

DOI

10.1002/HUMU.22448

1 reference

3 November 2017

1 reference