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Academic Journal

Identification of Two Novel EPOR Gene Variants in Primary Familial Polycythemia: Case Report and Literature Review.

  • Authors : Lo Riso L; Hematology and Hemotherapy Department, Hospital Universitario Son Espases, IDISBA, 07120 Palma de Mallorca, Spain.; Vargas-Parra G

Subjects: Receptors, Erythropoietin*/Receptors, Erythropoietin*/Receptors, Erythropoietin*/genetics ; Polycythemia*/Polycythemia*/Polycythemia*/genetics ; Polycythemia*/Polycythemia*/Polycythemia*/congenital Polycythemia, primary familial and congenital

  • Source: Genes [Genes (Basel)] 2022 Sep 20; Vol. 13 (10). Date of Electronic Publication: 2022 Sep 20.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425

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Academic Journal

Novel mutations in EPO-R and oxygen-dependent degradation (ODD) domain of EPAS1 genes-a causative reason for Congenital Erythrocytosis.

  • Authors : Echambadi Loganathan S; Department of Biotechnology, Sri Venkateswara Institute of Medical Sciences and University, Tirupati, Andhra Pradesh, India.; Kattaru S

Subjects: Polycythemia*/Polycythemia*/Polycythemia*/congenital ; Polycythemia*/Polycythemia*/Polycythemia*/genetics ; Polycythemia*/Polycythemia*/Polycythemia*/metabolism Polycythemia, primary familial and congenital

  • Source: European journal of medical genetics [Eur J Med Genet] 2022 Jun; Vol. 65 (6), pp. 104493. Date of Electronic Publication: 2022 Apr 05.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Genetic variants of erythropoietin (EPO) and EPO receptor genes in familial erythrocytosis.

  • Authors : Vočanec D; Department of Animal Science, Biotechnical Faculty, University of Ljubljana, Ljubljana, Slovenia.; Institute of Biochemistry, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.

Subjects: Genetic Variation*; Erythropoietin/Erythropoietin/Erythropoietin/*genetics ; Polycythemia/Polycythemia/Polycythemia/*congenital Polycythemia, primary familial and congenital

  • Source: International journal of laboratory hematology [Int J Lab Hematol] 2019 Apr; Vol. 41 (2), pp. 162-167. Date of Electronic Publication: 2018 Dec 03.Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 101300213 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

New pathogenic mechanisms induced by germline erythropoietin receptor mutations in primary erythrocytosis.

  • Authors : Pasquier F; INSERM, UMR 1170, Gustave Roussy, Laboratoire d'Excellence GR-Ex, Villejuif, France.; Université Paris-Sud, UMR 1170, Gustave Roussy, Villejuif, France.

Subjects: Germ-Line Mutation*; Polycythemia/Polycythemia/Polycythemia/*etiology ; Receptors, Erythropoietin/Receptors, Erythropoietin/Receptors, Erythropoietin/*genetics

  • Source: Haematologica [Haematologica] 2018 Apr; Vol. 103 (4), pp. 575-586. Date of Electronic Publication: 2017 Dec 21.Publisher: Ferrata Storti Foundation Country of Publication: Italy NLM ID: 0417435 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Novel mutations in the EPO-R, VHL and EPAS1 genes in the Congenital Erythrocytosis patients.

  • Authors : Chandrasekhar C; Department of Hematology, Sri Venkateswara Institute of Medical Sciences, Tirupati 517507, Andhra Pradesh, India.; Pasupuleti SK

Subjects: Basic Helix-Loop-Helix Transcription Factors/Basic Helix-Loop-Helix Transcription Factors/Basic Helix-Loop-Helix Transcription Factors/*genetics ; Polycythemia/Polycythemia/Polycythemia/*congenital ; Receptors, Erythropoietin/Receptors, Erythropoietin/Receptors, Erythropoietin/*genetics Polycythemia, primary familial and congenital

  • Source: Blood cells, molecules & diseases [Blood Cells Mol Dis] 2020 Nov; Vol. 85, pp. 102479. Date of Electronic Publication: 2020 Jul 23.Publisher: Academic Press Country of Publication: United States NLM ID: 9509932 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Report

Mutation profile of JAK2, EPOR and CALR genes in polycythemia patients.

  • Authors : Anbinselvam A; Centre for Nanosciences and Molecular Medicine, Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham, Kochi 682041, India.; Sidharthan N

Subjects: Mutation*; Calreticulin/Calreticulin/Calreticulin/*genetics ; Janus Kinase 2/Janus Kinase 2/Janus Kinase 2/*genetics

  • Source: Blood cells, molecules & diseases [Blood Cells Mol Dis] 2020 May; Vol. 82, pp. 102414. Date of Electronic Publication: 2020 Feb 11.Publisher: Academic Press Country of Publication: United States NLM ID: 9509932 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Expansion of EPOR-negative macrophages besides erythroblasts by elevated EPOR signaling in erythrocytosis mouse models.

  • Authors : Wang J; Divisions of Pathology and Experimental Hematology and Cancer Biology, Cincinnati Children's Hospital Medical Center, OH, USA.; Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China.

Subjects: Signal Transduction*; Cytokine Receptor Common beta Subunit/Cytokine Receptor Common beta Subunit/Cytokine Receptor Common beta Subunit/*metabolism ; Erythroblasts/Erythroblasts/Erythroblasts/*metabolism

  • Source: Haematologica [Haematologica] 2018 Jan; Vol. 103 (1), pp. 40-50. Date of Electronic Publication: 2017 Oct 19.Publisher: Ferrata Storti Foundation Country of Publication: Italy NLM ID: 0417435 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Discrepancy in the degree of polycythemia in a family with a novel nonsense EPOR mutation.

  • Authors : Ratarat C; Department of Pediatrics, Faculty of Medicine, Chiang Mai University, 110 Intawarorot Road, Sriphum, Muang, Chiang Mai, 50200, Thailand.; Ittiwut C

Subjects: Polycythemia/Polycythemia/Polycythemia/*genetics ; Receptors, Erythropoietin/Receptors, Erythropoietin/Receptors, Erythropoietin/*genetics; Child

  • Source: International journal of hematology [Int J Hematol] 2019 Nov; Vol. 110 (5), pp. 640-641. Date of Electronic Publication: 2019 Jul 26.Publisher: Springer Japan Country of Publication: Japan NLM ID: 9111627 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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A novel mutation in erythropoietin receptor gene (c.1308_1309insG) in an Indian patient with erythrocytosis.

  • Authors : Jain A; Department of hematology, Vardhman Mahavir Medical College and Safdarjung hospital, New Delhi, India.; Prasad P

Subjects: Alleles* ; Mutation*; Polycythemia/Polycythemia/Polycythemia/*diagnosis

  • Source: European journal of haematology [Eur J Haematol] 2019 Oct; Vol. 103 (4), pp. 449-450. Date of Electronic Publication: 2019 Aug 23.Publisher: Blackwell Country of Publication: England NLM ID: 8703985 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1600-0609

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Academic Journal

A case of primary familial congenital polycythemia with a novel EPOR mutation: possible spontaneous remission/alleviation by menstrual bleeding.

  • Authors : Toriumi N; Department of Pediatrics, Asahikawa Medical University, 2-1, Midorigaoka-higashi, Asahikawa, 078-8510, Japan.; Kaneda M

Subjects: Hemorrhage*; Menstruation/Menstruation/Menstruation/*physiology ; Mutation/Mutation/Mutation/*genetics

  • Source: International journal of hematology [Int J Hematol] 2018 Sep; Vol. 108 (3), pp. 339-343. Date of Electronic Publication: 2018 Apr 05.Publisher: Springer Japan Country of Publication: Japan NLM ID: 9111627 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  128 results for ""Receptors, Erythropoietin""