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Journal Articles

Tibetan Gain-of-Function Variant of Prolyl Hydroxylase 2 ( EGLN1) and Selected SNPs of HIF-2-Alpha ( EPAS1) Are Associated with Lower Hemoglobin Values in Tibetans

Tsewang Tashi, MD, N. Scott Reading, PhD, Anna Shestakova, MD PhD, Tatiana Burjanivova, PhD, Tanna Uran, MD PhD, Felipe R Lorenzo V, MD, PhD, Hao Hu, PhD, Chad Huff, PhD, Lorna Moore, PhD, Parvaiz Koul, MD, Carl T Wittwer, MD PhD, Victor R. Gordeuk, MD, Re-Li Ge, MD PhD, Josef T. Prchal, MD

Blood (2015) 126 (23): 3332.

https://doi.org/10.1182/blood.V126.23.3332.3332

Published: 2015

Journal Articles

RUNX1 and NF-E2 Transcriptional Upregulation Is Not Specific For Myeloproliferative Neoplasms But Is Seen In Those Polycythemic Disorders With Augmented HIFs Signaling

Katarina Kapralova, MSc, Lucie Lanikova, PhD, Felipe R Lorenzo V, PhD, Monika Horvathova, PhD, Vladimir Divoky, PhD, Josef T. Prchal, MD

Blood (2013) 122 (21): 2177.

https://doi.org/10.1182/blood.V122.21.2177.2177

Published: 2013

Journal Articles

Ph-Negative Myeloproliferative Neoplasms Exhibit Some Features Of Warburg Effect

Sherjeel Sana, MD, Maria Navas-Mareno, PhD, Z.Valey Vardney, PhD, Mark Duros, MS, Felipe R Lorenzo V, PhD, Katarina Kapralova, MSc, Sabina Swierczek, PhD, Josef Prchal, MD

Blood (2013) 122 (21): 1604.

https://doi.org/10.1182/blood.V122.21.1604.1604

Published: 2013

Journal Articles

A Novel EPO Gene Mutation In a Family With Autosomal Dominant Polycythemia

Felipe R Lorenzo V, PhD, Rebecca Margraf, PhD, Sabina Swierczek, PhD, Kimberly Hickman, Karl Voelkerding, MD, Josef Prchal, MD

Blood (2013) 122 (21): 950.

https://doi.org/10.1182/blood.V122.21.950.950

Published: 2013

Journal Articles

High Altitude Genetic Adaptation In Tibetans Does Not Include Increased Hemoglobin-Oxygen Affinity

Tsewang Tashi, MD, Dottie Hussey, Felipe R Lorenzo V, PhD, Parvaiz Koul, MD, Josef T. Prchal, MD

Blood (2013) 122 (21): 937.

https://doi.org/10.1182/blood.V122.21.937.937

Published: 2013

Journal Articles

A Novel EGLN1/PHD2 High-Frequency Variant in Tibetans Protects Against Hypoxia-Induced Polycythemia.

Felipe R Lorenzo V, M.D., PhD., Chad Daniel Huff, PhD, Mikko Myllymäki, Sabina Swierczek, PhD, Mohamed E Salama, M.D., Gregg Semenza, MD, PhD, Victor R. Gordeuk, MD, Lynn Jorde, Prof., Peppi Koivunen, MD, PhD, Josef T. Prchal, MD

Blood (2012) 120 (21): 2079.

https://doi.org/10.1182/blood.V120.21.2079.2079

Published: 2012

Journal Articles

Three Novel EPAS1/HIF2A Somatic and Germline mutations Associated with Polycythemia and Pheochromocytoma/Paraganglioma.

Felipe R Lorenzo V, M.D., PhD., Zhengping Zhuang, Chunzhang Yang, Mark Ng Tang Fui, Hariprasad Vankayalapati, Karel Pacak, Josef T. Prchal, MD

Blood (2012) 120 (21): 2080.

https://doi.org/10.1182/blood.V120.21.2080.2080

Published: 2012

Journal Articles

Novel Homozygous VHL Mutation in Exon 2 (413C>T:P138L) Is Associated with Congenital Polycythemia, Elevated Level of RUNX1/AML1 Transcript, but Not with the Cancer.

Lucie Piterkova, PhD, Felipe R Lorenzo V, M.D., PhD., Hari Vankalayapati, MPharm., PhD., Richard A. Drachtman, MD, Josef T. Prchal, MD

Blood (2012) 120 (21): 2081.

https://doi.org/10.1182/blood.V120.21.2081.2081

Published: 2012

Journal Articles

The Tibetan PHD2 Polymorphism Asp4Glu Is Associated with Hypersensitivity of Erythroid Progenitors to EPO and Upregulation of HIF-1 Regulated Genes Hexokinase (HK1) and Glucose Transporter 1 (SLC2A/GLUT1),

Felipe R Lorenzo, V, M.D., PhD, Sabina Swierczek, PhD, Chad Daniel Huff, PhD, Josef T. Prchal, MD

Blood (2011) 118 (21): 3388.

https://doi.org/10.1182/blood.V118.21.3388.3388

Published: 2011

Journal Articles

A Novel PHD2 Mutation Associated with Tibetan Genetic Adaptation to High Altitude Hypoxia.

Felipe R Lorenzo V, M.D., PhD., Tatum S Simonson, Yingzhong Yang, Rili Ge, Josef T. Prchal, MD

Blood (2010) 116 (21): 2602.

https://doi.org/10.1182/blood.V116.21.2602.2602

Published: 2010

Journal Articles

Identification of Two Novel Mutations in the CYB5R3 Gene in Five Cases of Type I Methemoglobinemia

Felipe R. Lorenzo, V, MD, PhD, Roberto H Nussenzveig, PhD, John D Phillips, PhD, Stanley L. Schrier, MD, Josef T. Prchal, MD

Blood (2008) 112 (11): 3854.

https://doi.org/10.1182/blood.V112.11.3854.3854

Published: 2008

Journal Articles

Molecular Analysis of PDGFR α / β Genes in Core Binding Factor Leukemia with Eosinophilia.

Fumihiko Monma, Kazuhiro Nishii, Felipe R. Lorenzo V, Naoyuki Katayama, Hiroshi Shiku

Blood (2005) 106 (11): 4498.

https://doi.org/10.1182/blood.V106.11.4498.4498

Published: 2005

NARROW

Tibetan Gain-of-Function Variant of Prolyl Hydroxylase 2 ( EGLN1) and Selected SNPs of HIF-2-Alpha ( EPAS1) Are Associated with Lower Hemoglobin Values in Tibetans

RUNX1 and NF-E2 Transcriptional Upregulation Is Not Specific For Myeloproliferative Neoplasms But Is Seen In Those Polycythemic Disorders With Augmented HIFs Signaling

Ph-Negative Myeloproliferative Neoplasms Exhibit Some Features Of Warburg Effect

A Novel EPO Gene Mutation In a Family With Autosomal Dominant Polycythemia

High Altitude Genetic Adaptation In Tibetans Does Not Include Increased Hemoglobin-Oxygen Affinity

A Novel EGLN1/PHD2 High-Frequency Variant in Tibetans Protects Against Hypoxia-Induced Polycythemia.

Three Novel EPAS1/HIF2A Somatic and Germline mutations Associated with Polycythemia and Pheochromocytoma/Paraganglioma.

Novel Homozygous VHL Mutation in Exon 2 (413C>T:P138L) Is Associated with Congenital Polycythemia, Elevated Level of RUNX1/AML1 Transcript, but Not with the Cancer.

The Tibetan PHD2 Polymorphism Asp4Glu Is Associated with Hypersensitivity of Erythroid Progenitors to EPO and Upregulation of HIF-1 Regulated Genes Hexokinase (HK1) and Glucose Transporter 1 (SLC2A/GLUT1),

A Novel PHD2 Mutation Associated with Tibetan Genetic Adaptation to High Altitude Hypoxia.

Identification of Two Novel Mutations in the CYB5R3 Gene in Five Cases of Type I Methemoglobinemia

Molecular Analysis of PDGFR α / β Genes in Core Binding Factor Leukemia with Eosinophilia.

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American Society of Hematology

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