Cargando…

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

Detalles Bibliográficos
Autor principal:	Percy, Melanie J
Formato:	Texto
Lenguaje:	English
Publicado:	The Ulster Medical Society 2008
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2516423/ https://www.ncbi.nlm.nih.gov/pubmed/18711622

Ejemplares similares

The role of PHD2 mutations in the pathogenesis of erythrocytosis
por: Gardie, Betty, et al.
Publicado: (2014)

Investigation of Genetic Disturbances in Oxygen Sensing and Erythropoietin Signaling Pathways in Cases of Idiopathic Erythrocytosis
por: Dinardo, Carla Luana, et al.
Publicado: (2013)

Myelodysplastic Syndrome/Acute Myeloid Leukemia Arising in Idiopathic Erythrocytosis
por: Langabeer, Stephen E., et al.
Publicado: (2018)

Genetic analysis of 39 erythrocytosis and hereditary hemochromatosis‐associated genes in the Slovenian family with idiopathic erythrocytosis
por: Kristan, Aleša, et al.
Publicado: (2021)

HIF Oxygen Sensing Pathways in Lung Biology
por: Urrutia, Andrés A., et al.
Publicado: (2018)

Cardiopulmonary function in two human disorders of the hypoxia-inducible factor (HIF) pathway: von Hippel-Lindau disease and HIF-2α gain-of-function mutation
por: Formenti, Federico, et al.
Publicado: (2011)

Low incidence of EPOR mutations in idiopathic erythrocytosis
por: Filser, Mathilde, et al.
Publicado: (2020)

Genetic variants of erythropoietin (EPO) and EPO receptor genes in familial erythrocytosis
por: Vočanec, Danijela, et al.
Publicado: (2018)

SURPRISING ERYTHROCYTOSIS RESOLUTION AFTER MYOMECTOMY: MYOMATOUS ERYTHROCYTOSIS SYNDROME
por: Couillandre, Pauline, et al.
Publicado: (2023)

Congenital erythrocytosis – discover of a new mutation in the EGLN1 gene
por: Barradas, João, et al.
Publicado: (2018)

Molecular Pathways Involved in the Development of Congenital Erythrocytosis
por: Tomc, Jana, et al.
Publicado: (2021)

High-Altitude Hypoxia Induces Excessive Erythrocytosis in Mice via Upregulation of the Intestinal HIF2a/Iron-Metabolism Pathway
por: Zhou, Sisi, et al.
Publicado: (2023)

Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis
por: Karaghiannis, Valéna, et al.
Publicado: (2023)

Isolated Erythrocytosis Associated With 3 Novel Missense Mutations in the EGLN1 Gene
por: Moore, Joseph A., et al.
Publicado: (2020)

Erythrocytosis associated with EPAS1(HIF2A), EGLN1(PHD2), VHL, EPOR or BPGM mutations: the Mayo Clinic experience
por: Gangat, Naseema, et al.
Publicado: (2022)

Genetic Background of Congenital Erythrocytosis
por: McMullin, Mary Frances
Publicado: (2021)

Hemochromatosis, Erythrocytosis and the JAK2 p.V617F Mutation
por: Langabeer, Stephen E.
Publicado: (2017)

Hemochromatosis Gene Mutation in Persons Developing Erythrocytosis on Combined Testosterone and SGLT-2 Inhibitor Therapy
por: Schumacher, Kamilya A., et al.
Publicado: (2022)

Novel perspectives on the PHD-HIF oxygen sensing pathway in cardioprotection mediated by IPC and RIPC
por: Martin-Puig, Silvia, et al.
Publicado: (2015)

Elevated pentose phosphate pathway is involved in the recovery of hypoxia-induced erythrocytosis
por: Liu, Chang, et al.
Publicado: (2017)

Idiopathic erythrocytosis in IgA nephropathy
por: Mahesh, E., et al.
Publicado: (2017)

Erythrocytosis associated with IgA nephropathy
por: Cohen, Camille, et al.
Publicado: (2021)

Clinical characteristics of a Turkish family with congenital erythrocytosis due to an EPOR mutation: Is routine phlebotomy indicated in children and adolescents?
por: Sarper, Nazan, et al.
Publicado: (2020)

New pathogenic mechanisms induced by germline erythropoietin receptor mutations in primary erythrocytosis
por: Pasquier, Florence, et al.
Publicado: (2018)

Role Of Hif2α Oxygen Sensing Pathway In Bronchial Epithelial Club Cell Proliferation
por: Torres-Capelli, Mar, et al.
Publicado: (2016)

Clinical features of acquired erythrocytosis: Low levels of serum erythropoietin in a subset of non‐neoplastic erythrocytosis patients
por: Mori, Yosuke, et al.
Publicado: (2022)

The conservation and functionality of the oxygen-sensing enzyme Factor Inhibiting HIF (FIH) in non-vertebrates
por: Hampton-Smith, Rachel J., et al.
Publicado: (2019)

A novel germline gain-of-function HIF2A mutation in hepatocellular carcinoma with polycythemia
por: Yu, Jiong, et al.
Publicado: (2020)

Effects of idiopathic erythrocytosis on the left ventricular diastolic functions and the spectrum of genetic mutations: A case control study
por: Yesilaltay, Alpay, et al.
Publicado: (2022)

Erythrocytosis due to PHD2 Mutations: A Review of Clinical Presentation, Diagnosis, and Genetics
por: Wilson, Rachel, et al.
Publicado: (2016)

Idiopathic erythrocytosis in a patient on chronic hemodialysis
por: Lee, Dong Hyun, et al.
Publicado: (2015)

Excessive Erythrocytosis and Cardiovascular Risk in Andean Highlanders
por: Corante, Noemí, et al.
Publicado: (2018)

Myomatous erythrocytosis syndrome: A case series
por: de Guzman, Glaiza S., et al.
Publicado: (2019)

Immunoglobulin A Nephropathy with Erythrocytosis: An Unusual Association
por: Navaradnam, Piratheepan, et al.
Publicado: (2021)

New directions in the pathogenesis of primary erythrocytosis in IgAN
por: Schena, Francesco Paolo, et al.
Publicado: (2022)

Myomatous erythrocytosis syndrome: A case report
por: Shu, Xin-Yu, et al.
Publicado: (2022)

Vascular stiffening in aging females with a hypertension‐induced HIF2A gain‐of‐function mutation
por: Volkova, Eugenia, et al.
Publicado: (2022)

Germline heterozygous SH2B3‐mutations and (idiopathic) erythrocytosis: Detection of a previously undescribed mutation
por: Vermeersch, Gaël, et al.
Publicado: (2023)

P1012: CHARACTERIZING JAK2 MUTATED AND UNMUTATED ERYTHROCYTOSIS: A CLINICAL AND GENETIC COMPARISON
por: Mee Hwang, Sang, et al.
Publicado: (2023)

P1065: CONGENITAL ERYTHROCYTOSIS DUE TO HETEROZYGOUS VARIANTS IN THE BISPHOSPHOGLYCERATE MUTASE GENE
por: van Dijk, M. J., et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_fp0bov8mjkbjt4i8dimmmer4mu