The homozygous VHL D126N missense mutation is associated with dramatically elevated erythropoietin levels, consequent polycythemia, and early onset severe pulmonary hypertension-Reference-Cited by-同舟云学术

The homozygous VHL D126N missense mutation is associated with dramatically elevated erythropoietin levels, consequent polycythemia, and early onset severe pulmonary hypertension

Published:2014-04-12 Issue:11 Volume:61 Page:2104-2106
ISSN:1545-5009
Container-title:Pediatric Blood & Cancer
language:en
Short-container-title:Pediatr Blood Cancer

Author:

Sarangi Susmita¹,Lanikova Lucie²³,Kapralova Katarina²³,Acharya Suchitra¹,Swierczek Sabina²,Lipton Jeffrey M.¹,Wolfe Lawrence¹,Prchal Josef T.²⁴

Affiliation:

1. Division of Pediatric Hematology Oncology; Cohen Children's Medical Center; New Hyde Park New York

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

3. Faculty of Medicine and Dentistry; Department of Biology; Palacky University; Olomouc Czech Republic

4. George E. Wahlen Department of Veterans Affairs Medical Center; Salt Lake City Utah

Publisher

Wiley

Subject

Oncology,Hematology,Pediatrics, Perinatology and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/pbc.25056/fullpdf

Reference13 articles.

1. Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia;Ang;Nat Genet,2002

2. Polycythemia due to Croatian homozygous VHL (571c>G:H191D) mutation has a different phenotype than Chuvash polycythemia (VHL 598C>T:R200W);Ljubas;Haematologica,2013

3. Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer;Lanikova;Blood,2013

4. Mutations in the VHL gene in sporadic apparently congenital polycythemia;Pastore;Blood,2003

5. Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia;Pastore;Am J Hum Genet,2003

Cited by 30 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Hereditary Renal Cancer Syndromes;Medical Sciences;2024-02-18

2. Loss of one copy of vhl in zebrafish facilitates hypoxia tolerance;Aquaculture Reports;2023-12

3. Oxygen‐sensing pathways and the pulmonary circulation;The Journal of Physiology;2023-10-16

4. Regulation of Erythropoiesis by the Hypoxia-Inducible Factor Pathway: Effects of Genetic and Pharmacological Perturbations;Annual Review of Medicine;2023-01-27

5. Early‐onset and severe pulmonary arterial hypertension due to a novel compound heterozygous association of rare VHL mutations: A case report and review of existing data;Pulmonary Circulation;2022-04