Publications by authors named "Josef T Prchal"

99Publications

Bisphosphoglycerate Mutase Deficiency Protects against Cerebral Malaria and Severe Malaria-Induced Anemia.

Cell Rep 2020 Sep;32(12):108170

Department of Human Genetics, McGill University, Montreal, QC H3A 0C7, Canada; McGill University Research Centre on Complex Traits, McGill University, Montreal, QC H3G 0B1, Canada; Department of Biochemistry, McGill University, Montreal, QC H3A 1A3, Canada. Electronic address:

View Article and Find Full Text PDF
September 2020

Early Hyperbilirubinemia in Neonates with Down Syndrome.

J Pediatr 2020 04 31;219:140-145. Epub 2020 Jan 31.

Division of Neonatology, Department of Pediatrics, University of Utah Health, Salt Lake City, UT; Women and Newborn's Clinical Program, Intermountain Healthcare, Salt Lake City, UT; Division of Hematology-Oncology, Department of Pediatrics, University of Utah Health, Salt Lake City, UT.

View Article and Find Full Text PDF
April 2020

Clonal hematopoiesis in hematological disorders: Three different scenarios.

Exp Hematol 2020 03 30;83:57-65. Epub 2020 Jan 30.

Hematology and Hematological Malignancies, University of Utah and Veterans Administration Hospital, Salt Lake City, UT; Huntsman Cancer Institute, Salt Lake City, UT. Electronic address:

View Article and Find Full Text PDF
March 2020

Response to interferon treatment in essential thrombocythemia with inv(3)(q21q26).

Ann Hematol 2019 Nov 1. Epub 2019 Nov 1.

Division of Hematology, Department of Medicine, University of Utah and Huntsman Cancer Institute, Salt Lake City, UT, USA.

View Article and Find Full Text PDF
November 2019

Experimental Modeling of Myeloproliferative Neoplasms.

Genes (Basel) 2019 10 15;10(10). Epub 2019 Oct 15.

Laboratory of Cell and Developmental Biology, Institute of Molecular Genetics of the Czech Academy of Sciences, Videnska 1083, 142 20 Prague 4, Czech Republic.

View Article and Find Full Text PDF
October 2019

Iron chelation and 2-oxoglutarate-dependent dioxygenase inhibition suppress mantle cell lymphoma's cyclin D1.

J Cell Mol Med 2019 11 13;23(11):7785-7795. Epub 2019 Sep 13.

Department of Cell and Developmental Biology, Institute of Molecular Genetics, Academy of Sciences of the Czech Republic, Prague, Czech Republic.

View Article and Find Full Text PDF
November 2019

Thrombotic risk in congenital erythrocytosis due to up-regulated hypoxia sensing is not associated with elevated hematocrit.

Haematologica 2020 03 9;105(3):e87-e90. Epub 2019 Jul 9.

Division of Hematology and Hematologic Malignancies, University of Utah and Huntsman Cancer Center, Salt Lake City, UT, USA

View Article and Find Full Text PDF
March 2020

Thrombotic risk in congenital erythrocytosis due to up-regulated hypoxia sensing is not associated with elevated hematocrit.

Haematologica 2020 03 9;105(3):e87-e90. Epub 2019 Jul 9.

Division of Hematology and Hematologic Malignancies, University of Utah and Huntsman Cancer Center, Salt Lake City, UT, USA

View Article and Find Full Text PDF
March 2020

Development of a symptom assessment in patients with myelofibrosis: qualitative study findings.

Health Qual Life Outcomes 2019 Apr 11;17(1):61. Epub 2019 Apr 11.

Guy's and St. Thomas' NHS Foundation Trust, St. Thomas Hospital, Westminster Bridge Rd. Lambeth, London, SE1 7EH, UK.

View Article and Find Full Text PDF
April 2019

Re-evaluation of hematocrit as a determinant of thrombotic risk in erythrocytosis.

Haematologica 2019 04 14;104(4):653-658. Epub 2019 Mar 14.

Division of Hematology and Hematologic Malignancies, University of Utah and Huntsman Cancer Center, Salt Lake City, UT, USA

View Article and Find Full Text PDF
April 2019

Diagnosing or ruling out polycythemia vera in patients with erythrocytosis.

Authors:
Josef T Prchal

Clin Adv Hematol Oncol 2019 Jan;17(1):24-27

University of Utah Huntsman Cancer Institute and George E. Wahlen Department of Veterans Affairs Medical Center, Salt Lake City, Utah.

View Article and Find Full Text PDF
January 2019

Hypoxia and thrombosis.

Authors:
Josef T Prchal

Blood 2018 07;132(4):348-349

University of Utah.

View Article and Find Full Text PDF
July 2018

Evaluation of Erythrocyte Changes After Normoxic Return from Hypoxia.

Methods Mol Biol 2018 ;1742:185-194

Division of Hematology, Department of Internal Medicine, University of Utah Health Sciences Center, Salt Lake City, UT, USA.

View Article and Find Full Text PDF
January 2019

Natural Selection on Genes Related to Cardiovascular Health in High-Altitude Adapted Andeans.

Am J Hum Genet 2017 Nov;101(5):752-767

Department of Integrative Biology, University of California, Berkeley, Berkeley, CA 94702, USA; Museum of Natural History, University of Copenhagen, Øster Voldgade 5-7, 1350 Copenhagen, Denmark; Department of Statistics, University of California, Berkeley, Berkeley, CA 94702, USA. Electronic address:

View Article and Find Full Text PDF
November 2017

Familial MPN Predisposition.

Curr Hematol Malig Rep 2017 10;12(5):442-447

Division of Hematology and Hematologic Malignancies, University of Utah, Salt Lake City, UT, USA.

View Article and Find Full Text PDF
October 2017

Ironing out the role of hepcidin in infection.

Authors:
Josef T Prchal

Blood 2017 07;130(3):233-234

UNIVERSITY OF UTAH SCHOOL OF MEDICINE.

View Article and Find Full Text PDF
July 2017

Thrombotic Thrombocytopenic Purpura Associated With Pegylated Interferon Alfa-2a Use in a Patient With Polycythemia Vera.

J Natl Compr Canc Netw 2017 06;15(6):757-760

Division of Hematology, Department of Medicine, University of Utah, Salt Lake City, Utah

View Article and Find Full Text PDF
June 2017

Regulation of erythropoiesis after normoxic return from chronic sustained and intermittent hypoxia.

J Appl Physiol (1985) 2017 12 18;123(6):1671-1675. Epub 2017 May 18.

University of Utah , Salt Lake City, Utah.

View Article and Find Full Text PDF
December 2017

A patient with both methemoglobinemia and G6PD deficiency: A therapeutic conundrum.

Am J Hematol 2017 May 24;92(5):474-477. Epub 2017 Mar 24.

Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, Utah, USA.

View Article and Find Full Text PDF
May 2017

Three Novel Spectrin Variants in Jaundiced Neonates.

Clin Pediatr (Phila) 2018 Jan 15;57(1):19-26. Epub 2017 Jan 15.

1 University of Utah, Salt Lake City, UT, USA.

View Article and Find Full Text PDF
January 2018

Possible association of 3' UTR +357 A>G, IVS11-nt 93 T>C, c.1311 C>T polymorphism with G6PD deficiency.

Hematology 2017 Jul 6;22(6):370-374. Epub 2017 Jan 6.

b Division of Hematology, Department of Internal Medicine , School of Medicine, University of Utah , Salt Lake City , UT , USA.

View Article and Find Full Text PDF
July 2017

Coexistence of gain-of-function JAK2 germ line mutations with JAK2V617F in polycythemia vera.

Blood 2016 11 19;128(18):2266-2270. Epub 2016 Sep 19.

Division of Hematology, University of Utah School of Medicine, Salt Lake City, UT.

View Article and Find Full Text PDF
November 2016

Favism, the commonest form of severe hemolytic anemia in Palestinian children, varies in severity with three different variants of G6PD deficiency within the same community.

Blood Cells Mol Dis 2016 09 6;60:58-64. Epub 2016 Jul 6.

Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT, USA; Division of Hematology, Department of Internal Medicine, School of Medicine, University of Utah, Salt Lake City, UT, USA. Electronic address:

View Article and Find Full Text PDF
September 2016

A Genome-Wide Search for Greek and Jewish Admixture in the Kashmiri Population.

PLoS One 2016 4;11(8):e0160614. Epub 2016 Aug 4.

Department of Internal & Pulmonary Medicine, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Jammu and Kashmir, India.

View Article and Find Full Text PDF
August 2017

Clinical utility of next-generation sequencing in the diagnosis of hereditary haemolytic anaemias.

Br J Haematol 2016 09 12;174(5):806-14. Epub 2016 Jun 12.

Divisions of Neonatology and Hematology Oncology, University of Utah School of Medicine, Salt Lake City, UT, USA.

View Article and Find Full Text PDF
September 2016

Delayed hemoglobin switching and perinatal neocytolysis in mice with gain-of-function erythropoietin receptor.

J Mol Med (Berl) 2016 05 26;94(5):597-608. Epub 2015 Dec 26.

Hematology Division, Department of Medicine, University of Utah and VAH, Salt Lake City, UT, 84132, USA.

View Article and Find Full Text PDF
May 2016

Acquired uniparental disomy of chromosome 9p in hematologic malignancies.

Exp Hematol 2016 08 2;44(8):644-52. Epub 2015 Dec 2.

Division of Hematology, University of Utah School of Medicine and VAH, Salt Lake City, Utah. Electronic address:

View Article and Find Full Text PDF
August 2016

Measuring End-Tidal Carbon Monoxide of Jaundiced Neonates in the Birth Hospital to Identify Those with Hemolysis.

Neonatology 2016 23;109(1):1-5. Epub 2015 Sep 23.

Division of Neonatology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA.

View Article and Find Full Text PDF
September 2016

Genetic selection by high altitude: Beware of experiments at ambient conditions.

Authors:
Josef T Prchal

Proc Natl Acad Sci U S A 2015 Aug 10;112(33):10080-1. Epub 2015 Aug 10.

Hematology, Pathology and Genetics, University of Utah, Salt Lake City, UT 84132

View Article and Find Full Text PDF
August 2015

Comparative long-term effects of interferon α and hydroxyurea on human hematopoietic progenitor cells.

Exp Hematol 2015 Oct 11;43(10):912-918.e2. Epub 2015 Jun 11.

Department of Hematology, University of Utah School of Medicine, Salt Lake City, UT, USA.

View Article and Find Full Text PDF
October 2015

Metabolic aspects of high-altitude adaptation in Tibetans.

Exp Physiol 2015 Nov 14;100(11):1247-55. Epub 2015 Jul 14.

Department of Human Genetics and the Divisions of Endocrinology, Metabolism, and Diabetes and Division of Hematology, University of Utah School of Medicine, Salt Lake City, UT, USA.

View Article and Find Full Text PDF
November 2015

HIF-mediated increased ROS from reduced mitophagy and decreased catalase causes neocytolysis.

J Mol Med (Berl) 2015 Aug 28;93(8):857-66. Epub 2015 May 28.

Division of Hematology, School of Medicine, University of Utah, Salt Lake City, UT, 84132, USA.

View Article and Find Full Text PDF
August 2015

Limited efficacy of BMS-911543 in a murine model of Janus kinase 2 V617F myeloproliferative neoplasm.

Exp Hematol 2015 Jul 24;43(7):537-45.e1-11. Epub 2015 Apr 24.

Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA; Division of Hematology and Hematologic Malignancies, University of Utah, Salt Lake City, UT, USA. Electronic address:

View Article and Find Full Text PDF
July 2015

Somatic mosaicism of EPAS1 mutations in the syndrome of paraganglioma and somatostatinoma associated with polycythemia.

Hum Genome Var 2015 10;2:15053. Epub 2015 Dec 10.

Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health , Bethesda, MD, USA.

View Article and Find Full Text PDF
April 2016

Calreticulin mutated prefibrotic-stage myelofibrosis and PMF represent an independent clone from coexisting CLL.

Blood 2014 Sep;124(10):1691-2

Associated Regional University Pathologists Laboratories, Salt Lake City, UT Department of Pathology and Division of Hematology, School of Medicine, University of Utah, Salt Lake City, UT.

View Article and Find Full Text PDF
September 2014

A genetic mechanism for Tibetan high-altitude adaptation.

Nat Genet 2014 Sep 17;46(9):951-6. Epub 2014 Aug 17.

1] Department of Medicine, University of Utah School of Medicine and George E. Wahlin Veterans Administration Medical Center, Salt Lake City, Utah, USA. [2] Eccles Institute of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah, USA. [3].

View Article and Find Full Text PDF
September 2014

High altitude genetic adaptation in Tibetans: no role of increased hemoglobin-oxygen affinity.

Blood Cells Mol Dis 2014 Jun-Aug;53(1-2):27-9. Epub 2014 Mar 4.

Division of Hematology, University of Utah and Veterans Affairs Medical Center, Salt Lake City, UT, USA; ARUP Laboratories, Salt Lake City, UT, USA. Electronic address:

View Article and Find Full Text PDF
January 2015

Hypoxic response contributes to altered gene expression and precapillary pulmonary hypertension in patients with sickle cell disease.

Circulation 2014 Apr 10;129(16):1650-8. Epub 2014 Feb 10.

Comprehensive Sickle Cell Center, Section of Hematology/Oncology (X.Z., S.S., V.R.G.), Section of Cardiology (A.A.D.), and Section of Pulmonary, Critical Care, and Sleep Medicine (J.G.N.G., R.F.M.), Department of Medicine, Institute of Human Genetics (W.Z., R.K.), Department of Pediatrics (W.Z.), and Institute for Personalized Respiratory Medicine (A.A.D., T.A., N.G.C., J.G.N.G., R.F.M.), University of Illinois at Chicago, Chicago, IL; Section of Pulmonary/Critical Care, Department of Medicine, University of Chicago, Chicago, IL (S-F.M.); Chuvash Republic Clinical Hospital 2, Cheboksary, Russia (G.M.); Cheboksary Children's Hospital, Cheboksary, Russia (A.S.); Center for Sickle Cell Disease, Howard University, Washington, DC (T.A., M.X., S.N.); Department of Medicine, Boston University School of Medicine, Boston, MA (M.H.S., C.T.B.); Department of Biostatistics, Boston University School of Public Health, Boston, MA (P.S.); Hematology Division, University of Utah, Salt Lake City, UT (J.T.P.).

View Article and Find Full Text PDF
April 2014

RUNX1 and NF-E2 upregulation is not specific for MPNs, but is seen in polycythemic disorders with augmented HIF signaling.

Blood 2014 Jan 2;123(3):391-4. Epub 2013 Dec 2.

Division of Hematology, University of Utah, ARUP, and George E. Wahlen Department of Veterans Affairs Medical Center, Salt Lake City, UT; and.

View Article and Find Full Text PDF
January 2014

Detection of nine Mediterranean β-thalassemia mutations in Palestinians using three restriction enzyme digest panels: a reliable method for developing countries.

Hemoglobin 2014 21;38(1):39-43. Epub 2013 Oct 21.

Associated Regional and University Pathologists (ARUP) Laboratories , Salt Lake City, Utah , USA.

View Article and Find Full Text PDF
September 2014

Differential sensitivity to JAK inhibitory drugs by isogenic human erythroblasts and hematopoietic progenitors generated from patient-specific induced pluripotent stem cells.

Stem Cells 2014 Jan;32(1):269-78

Division of Hematology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA; Stem Cell Program, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

View Article and Find Full Text PDF
January 2014

Iron deficiency modifies gene expression variation induced by augmented hypoxia sensing.

Blood Cells Mol Dis 2014 Jan 28;52(1):35-45. Epub 2013 Aug 28.

Comprehensive Sickle Cell Center, Section of Hematology/Oncology, Department of Medicine, University of Illinois at Chicago, Chicago, IL, USA.

View Article and Find Full Text PDF
January 2014

β-Thalassemia due to intronic LINE-1 insertion in the β-globin gene (HBB): molecular mechanisms underlying reduced transcript levels of the β-globin(L1) allele.

Hum Mutat 2013 Oct 13;34(10):1361-5. Epub 2013 Aug 13.

Department of Biology, Faculty of Medicine and Dentistry, Palacky University, Olomouc, Czech Republic; Departments of Medicine, Pathology and Genetics, University of Utah and Medical Service, George E. Wahlen Department of Veterans Affairs Medical Center, Salt Lake City, Utah.

View Article and Find Full Text PDF
October 2013

Acute kernicterus in a neonate with O/B blood group incompatibility and a mutation in SLC4A1.

Pediatrics 2013 Aug 22;132(2):e531-4. Epub 2013 Jul 22.

Women and Newborns Program, Intermountain Healthcare, Salt Lake City, Utah 84403, USA.

View Article and Find Full Text PDF
August 2013

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

Blood 2013 May 28;121(19):3918-24. Epub 2013 Mar 28.

Division of Hematology, University of Utah and VA Health Care, Salt Lake City, UT 84132, USA.

View Article and Find Full Text PDF
May 2013

New syndrome of paraganglioma and somatostatinoma associated with polycythemia.

J Clin Oncol 2013 May 18;31(13):1690-8. Epub 2013 Mar 18.

Section on Medical Neuroendocrinology, Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver NICHD, NIH, Bethesda, MD 20892-1109, USA.

View Article and Find Full Text PDF
May 2013

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

Blood 2013 Mar 29;121(13):2563-6. Epub 2013 Jan 29.

Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20894, USA.

View Article and Find Full Text PDF
March 2013

Molecular basis of polycythemic disorders due to aberrant hypoxia sensing and its relevance to acute leukemia.

Authors:
Josef T Prchal

Best Pract Res Clin Haematol 2012 Dec 25;25(4):493-7. Epub 2012 Oct 25.

Pathology, and Genetics, Division of Hematology, University of Utah School of Medicine, 30 North 1900 East, 5C402, Salt Lake City, UT 8413, USA.

View Article and Find Full Text PDF
December 2012

Unexplained extreme hyperbilirubinemia among neonates in a multihospital healthcare system.

Blood Cells Mol Dis 2013 Feb 2;50(2):105-9. Epub 2012 Nov 2.

Women and Newborn's Clinical Program, Intermountain Healthcare, Salt Lake City, UT, USA.

View Article and Find Full Text PDF
February 2013

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

J Mol Med (Berl) 2013 Apr 23;91(4):507-12. Epub 2012 Oct 23.

Hematology Division, University of Utah School of Medicine and VAH, 30N 1900E, 5C402, Salt Lake City, UT 84132, USA.

View Article and Find Full Text PDF
April 2013

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

N Engl J Med 2012 Sep;367(10):922-30

Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.

View Article and Find Full Text PDF
September 2012

Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in Gaza Strip Palestinians.

Blood Cells Mol Dis 2012 Oct 15-Dec 15;49(3-4):152-8. Epub 2012 Jul 5.

ARUP Laboratories and University of Utah School of Medicine, Salt Lake City, UT 84132-2408, USA.

View Article and Find Full Text PDF
March 2013

Metabolic insight into mechanisms of high-altitude adaptation in Tibetans.

Mol Genet Metab 2012 Jun 17;106(2):244-7. Epub 2012 Mar 17.

Research Center for High-Altitude Medicine, Qinghai University Medical School, Xining, Qinghai 810001, People's Republic of China.

View Article and Find Full Text PDF
June 2012

Hemolysis and Mediterranean G6PD mutation (c.563 C>T) and c.1311 C>T polymorphism among Palestinians at Gaza Strip.

Blood Cells Mol Dis 2012 Apr 22;48(4):203-8. Epub 2012 Feb 22.

Associated Regional and University Pathologists, Inc., ARUP Laboratories and University of Utah, Salt Lake City, UT 84132-2408, USA.

View Article and Find Full Text PDF
April 2012

Methylation of AR locus does not always reflect X chromosome inactivation state.

Blood 2012 Mar 27;119(13):e100-9. Epub 2012 Jan 27.

Department of Medicine, Division of Hematology, University of Utah School of Medicine Salt Lake City, UT 84132, USA.

View Article and Find Full Text PDF
March 2012

Genetic determinants of Tibetan high-altitude adaptation.

Hum Genet 2012 Apr 9;131(4):527-33. Epub 2011 Nov 9.

Eccles Institute of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah, USA.

View Article and Find Full Text PDF
April 2012

Interferon and PV stem cells.

Authors:
Josef T Prchal

Blood 2011 Aug;118(6):1429-30

University of Utah, USA.

View Article and Find Full Text PDF
August 2011

Convergent mechanisms of somatic mutations in polycythemia vera.

Discov Med 2011 Jul;12(62):25-32

Center for Applied Genomics, Children's Hospital of Philadelphia, Pennsylvania 19104, USA.

View Article and Find Full Text PDF
July 2011

Hypoxia. 5. Hypoxia and hematopoiesis.

Am J Physiol Cell Physiol 2011 Jun 2;300(6):C1215-22. Epub 2011 Mar 2.

Hematology Division, University of Utah, 30 North 1900 East, Salt Lake City, UT 84132, USA.

View Article and Find Full Text PDF
June 2011

Molecular basis of two novel mutations found in type I methemoglobinemia.

Blood Cells Mol Dis 2011 Apr 24;46(4):277-81. Epub 2011 Feb 24.

Internal Medicine, Hematology Division, University of Utah School of Medicine, Salt Lake City, 84132, USA.

View Article and Find Full Text PDF
April 2011