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  1. Article ; Online: On either side of homeostasis:

    Prchal, Josef T / Semenza, Gregg L

    Haematologica

    2023  Volume 108, Issue 10, Page(s) 2564–2565

    MeSH term(s) Humans ; Basic Helix-Loop-Helix Transcription Factors/genetics ; Mutation ; Homeostasis
    Chemical Substances Basic Helix-Loop-Helix Transcription Factors
    Language English
    Publishing date 2023-10-01
    Publishing country Italy
    Document type Editorial ; Comment
    ZDB-ID 2333-4
    ISSN 1592-8721 ; 0017-6567 ; 0390-6078
    ISSN (online) 1592-8721
    ISSN 0017-6567 ; 0390-6078
    DOI 10.3324/haematol.2023.283285
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: EnvIRONment modifies polycythemia vera.

    Prchal, Josef T / Reeves, Brandi N

    Blood

    2023  Volume 141, Issue 17, Page(s) 2042–2044

    MeSH term(s) Humans ; Polycythemia Vera/genetics ; Iron ; Myeloproliferative Disorders ; Phenotype ; Janus Kinase 2/genetics
    Chemical Substances Iron (E1UOL152H7) ; JAK2 protein, human (EC 2.7.10.2) ; Janus Kinase 2 (EC 2.7.10.2)
    Language English
    Publishing date 2023-04-20
    Publishing country United States
    Document type Editorial ; Comment
    ZDB-ID 80069-7
    ISSN 1528-0020 ; 0006-4971
    ISSN (online) 1528-0020
    ISSN 0006-4971
    DOI 10.1182/blood.2023020065
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Measurement of red cell, plasma, and blood volume: A perspective.

    Prchal, Josef T / Lichtman, Marshall A

    American journal of hematology

    2023  Volume 99, Issue 1, Page(s) 9–11

    MeSH term(s) Humans ; Plasma Cells ; Blood Volume ; Erythrocytes ; Plasma ; Plasma Volume ; Hematocrit ; Erythrocyte Volume
    Language English
    Publishing date 2023-11-15
    Publishing country United States
    Document type Journal Article
    ZDB-ID 196767-8
    ISSN 1096-8652 ; 0361-8609
    ISSN (online) 1096-8652
    ISSN 0361-8609
    DOI 10.1002/ajh.27158
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  4. Article ; Online: Measurement of red cell, plasma and blood volume: Essential components of diagnostic and research studies of oxygen transport.

    Lichtman, Marshall A / Prchal, Josef T

    Blood cells, molecules & diseases

    2023  Volume 105, Page(s) 102819

    MeSH term(s) Humans ; Plasma Cells ; Erythrocytes ; Blood Volume ; Oxygen ; Hematocrit
    Chemical Substances Oxygen (S88TT14065)
    Language English
    Publishing date 2023-12-07
    Publishing country United States
    Document type Letter
    ZDB-ID 1237083-6
    ISSN 1096-0961 ; 1079-9796
    ISSN (online) 1096-0961
    ISSN 1079-9796
    DOI 10.1016/j.bcmd.2023.102819
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  5. Article: Diagnosing or ruling out polycythemia vera in patients with erythrocytosis.

    Prchal, Josef T

    Clinical advances in hematology & oncology : H&O

    2019  Volume 17, Issue 1, Page(s) 24–27

    MeSH term(s) Biomarkers ; Diagnosis, Differential ; Erythropoietin/blood ; Hematopoiesis ; Humans ; Janus Kinase 2/genetics ; Phenotype ; Polycythemia/blood ; Polycythemia/diagnosis ; Polycythemia/etiology ; Polycythemia Vera/blood ; Polycythemia Vera/diagnosis ; Polycythemia Vera/etiology ; Practice Patterns, Physicians' ; Severity of Illness Index ; Symptom Assessment
    Chemical Substances Biomarkers ; EPO protein, human ; Erythropoietin (11096-26-7) ; JAK2 protein, human (EC 2.7.10.2) ; Janus Kinase 2 (EC 2.7.10.2)
    Language English
    Publishing date 2019-03-07
    Publishing country United States
    Document type Interview
    ZDB-ID 2271951-9
    ISSN 1543-0790
    ISSN 1543-0790
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Hypoxia and thrombosis.

    Prchal, Josef T

    Blood

    2018  Volume 132, Issue 4, Page(s) 348–349

    MeSH term(s) Humans ; Hypoxia ; Protein S ; Thrombosis
    Chemical Substances Protein S
    Language English
    Publishing date 2018-07-25
    Publishing country United States
    Document type Journal Article ; Comment
    ZDB-ID 80069-7
    ISSN 1528-0020 ; 0006-4971
    ISSN (online) 1528-0020
    ISSN 0006-4971
    DOI 10.1182/blood-2018-06-854976
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: HIF-2 inhibitor, erythrocytosis, and pulmonary hypertension.

    Prchal, Josef T / Gordeuk, Victor R

    Blood

    2021  Volume 137, Issue 18, Page(s) 2424–2425

    MeSH term(s) Basic Helix-Loop-Helix Transcription Factors/genetics ; Erythropoietin ; Humans ; Hypertension, Pulmonary/drug therapy ; Polycythemia
    Chemical Substances Basic Helix-Loop-Helix Transcription Factors ; Erythropoietin (11096-26-7)
    Language English
    Publishing date 2021-05-06
    Publishing country United States
    Document type Editorial ; Comment
    ZDB-ID 80069-7
    ISSN 1528-0020 ; 0006-4971
    ISSN (online) 1528-0020
    ISSN 0006-4971
    DOI 10.1182/blood.2020010323
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Ironing out the role of hepcidin in infection.

    Prchal, Josef T

    Blood

    2017  Volume 130, Issue 3, Page(s) 233–234

    MeSH term(s) Hepcidins ; Humans ; Iron
    Chemical Substances Hepcidins ; Iron (E1UOL152H7)
    Language English
    Publishing date 2017-07-19
    Publishing country United States
    Document type Journal Article ; Comment
    ZDB-ID 80069-7
    ISSN 1528-0020 ; 0006-4971
    ISSN (online) 1528-0020
    ISSN 0006-4971
    DOI 10.1182/blood-2017-05-783688
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Clonal hematopoiesis in hematological disorders: Three different scenarios.

    Swierczek, Sabina / Prchal, Josef T

    Experimental hematology

    2020  Volume 83, Page(s) 57–65

    Abstract: Clonality studies can establish the single-cell origin of tumors and thus differentiate clonal malignant and premalignant processes from reactive polyclonal processes. Detection of clonal cells may be based on direct tracking of cell lineage-specific ... ...

    Abstract Clonality studies can establish the single-cell origin of tumors and thus differentiate clonal malignant and premalignant processes from reactive polyclonal processes. Detection of clonal cells may be based on direct tracking of cell lineage-specific sequences or disease-specific somatic mutations identifying the clonal population. Historically, clonal hematopoiesis was defined using the principle of X-chromosome inactivation based on observation that in circulating clonal cells, only one of the active chromosomes was expressed. In myeloproliferative neoplasms (MPNs) virtually all circulating erythrocytes, platelets, and granulocytes are products of single mutated stem cells that preferentially differentiate into the myeloid rather than lymphoid lineage. Thus, clonal differentiated myeloid cells co-exist in circulation with polyclonal long-lived T lymphocytes that originated before the MPN-initiating somatic clonal event. Chronic lymphocytic leukemia (CLL) starts in a differentiating B cell, but other lymphoid lineages and myeloid cells remain polyclonal. Normal T and B cells co-exist with the CLL clone, but are diluted by the massively expanded CLL population, which outnumbers the residual normal cells. Clonal hematopoiesis of undetermined potential (CHIP) has been identified by whole-genome sequencing of healthy individuals. These clones contain a specific somatic mutation previously considered to be disease defining but are detected in only a small proportion of circulating leukocytes, and there is no obvious suppression of normal hematopoietic stem cells. However, more studies are needed to properly define these clones, their persistence or disappearance, and their relative propensity for transforming into leukemias, myeloproliferative neoplasms, or other clonal hematological malignancies.
    MeSH term(s) B-Lymphocytes/metabolism ; B-Lymphocytes/pathology ; Cell Differentiation/genetics ; Hematologic Neoplasms/genetics ; Hematologic Neoplasms/metabolism ; Hematologic Neoplasms/pathology ; Hematopoiesis/genetics ; Humans ; Leukemia, Lymphocytic, Chronic, B-Cell/genetics ; Leukemia, Lymphocytic, Chronic, B-Cell/metabolism ; Leukemia, Lymphocytic, Chronic, B-Cell/pathology ; Mutation ; Myeloproliferative Disorders/genetics ; Myeloproliferative Disorders/metabolism ; Myeloproliferative Disorders/pathology ; T-Lymphocytes/metabolism ; T-Lymphocytes/pathology ; Whole Genome Sequencing
    Language English
    Publishing date 2020-01-30
    Publishing country Netherlands
    Document type Journal Article ; Review
    ZDB-ID 185107-x
    ISSN 1873-2399 ; 0531-5573 ; 0301-472X
    ISSN (online) 1873-2399
    ISSN 0531-5573 ; 0301-472X
    DOI 10.1016/j.exphem.2020.01.013
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    Zs.A 922: Show issues Location:
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  10. Article ; Online: “What We Know and What We Do Not Know about Evolutionary Genetic Adaptation to High Altitude Hypoxia in Andean Aymaras”

    Amaru, Ricardo / Song, Jihyun / Reading, N. Scott / Gordeuk, Victor R. / Prchal, Josef T.

    Genes (Basel). 2023 Mar. 03, v. 14, no. 3

    2023  

    Abstract: Three well-studied populations living at high altitudes are Tibetans, Andeans (Aymaras and Quechuas), and Ethiopians. Unlike Tibetans and Ethiopians who have similar hemoglobin (Hb) levels as individuals living at sea level, Aymara Hb levels increase ... ...

    Abstract Three well-studied populations living at high altitudes are Tibetans, Andeans (Aymaras and Quechuas), and Ethiopians. Unlike Tibetans and Ethiopians who have similar hemoglobin (Hb) levels as individuals living at sea level, Aymara Hb levels increase when living at higher altitudes. Our previous whole genome study of Aymara people revealed several selected genes that are involved in cardiovascular functions, but their relationship with Hb levels was not elucidated. Here, we studied the frequencies of known evolutionary-selected variants in Tibetan and Aymara populations and their correlation with high Hb levels in Aymara. We genotyped 177 Aymaras at three different altitudes: 400 m (Santa Cruz), 4000 m (La Paz), and 5000 m (Chorolque), and correlated the results with the elevation of residence. Some of the Tibetan-selected variants also exist in Aymaras, but at a lower prevalence. Two of 10 Tibetan selected variants of EPAS1 were found (rs13005507 and rs142764723) and these variants did not correlate with Hb levels. Allele frequencies of 5 Aymara selected SNPs (heterozygous and homozygous) at 4000 m (rs11578671_BRINP3, rs34913965_NOS2, rs12448902_SH2B1, rs10744822_TBX5, and rs487105_PYGM) were higher compared to Europeans. The allelic frequencies of rs11578671_BRINP3, rs34913965_NOS2, and rs10744822_SH2B1 were significantly higher for Aymaras living at 5000 m than those at 400 m elevation. Variant rs11578671, close to the BRINP3 coding region, correlated with Hb levels in females. Variant rs34913965 (NOS2) correlated with leukocyte counts. Variants rs12448902 (SH2B1) and rs34913965 (NOS2) associated with higher platelet levels. The correlation of these SNPs with blood cell counts demonstrates that the selected genetic variants in Aymara influence hematopoiesis and cardiovascular effects.
    Keywords alleles ; altitude ; hematopoiesis ; hemoglobin ; heterozygosity ; homozygosity ; hypoxia ; leukocytes ; people ; sea level ; Andes region
    Language English
    Dates of publication 2023-0303
    Publishing place Multidisciplinary Digital Publishing Institute
    Document type Article ; Online
    ZDB-ID 2527218-4
    ISSN 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes14030640
    Database NAL-Catalogue (AGRICOLA)

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