Literature DB >> 23772956

Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia.

Felipe R Lorenzo, Chunzhang Yang, Lucie Lanikova, Linda Butros, Zhengping Zhuang, Josef T Prchal.   

Abstract

Entities:  

Keywords:  erythrocytosis; genetics; molecular haematology; mutations; polycythaemia

Mesh：

Substances：

Year:  2013        PMID： 23772956      PMCID： PMC3759558          DOI： 10.1111/bjh.12431

Source DB:  PubMed          Journal:  Br J Haematol        ISSN： 0007-1048            Impact factor:   6.998


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  10 in total

1.  Ubiquitination of hypoxia-inducible factor requires direct binding to the beta-domain of the von Hippel-Lindau protein.

Authors:  M Ohh; C W Park; M Ivan; M A Hoffman; T Y Kim; L E Huang; N Pavletich; V Chau; W G Kaelin
Journal:  Nat Cell Biol       Date:  2000-07       Impact factor: 28.824

2.  Endemic polycythemia in Russia: mutation in the VHL gene.

Authors:  Sonny O Ang; Hua Chen; Victor R Gordeuk; Adelina I Sergueeva; Lydia A Polyakova; Galina Y Miasnikova; Robert Kralovics; David W Stockton; Josef T Prchal
Journal:  Blood Cells Mol Dis       Date:  2002 Jan-Feb       Impact factor: 3.039

Review 3.  Congenital polycythemias/erythrocytoses.

Authors:  Victor R Gordeuk; David W Stockton; Josef T Prchal
Journal:  Haematologica       Date:  2005-01       Impact factor: 9.941

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

Authors:  Felipe R Lorenzo; Chunzhang Yang; Mark Ng Tang Fui; Hariprasad Vankayalapati; Zhengping Zhuang; Thanh Huynh; Mathis Grossmann; Karel Pacak; Josef T Prchal
Journal:  J Mol Med (Berl)       Date:  2012-10-23       Impact factor: 4.599

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

Authors:  Lucie Lanikova; Felipe Lorenzo; Chunzhang Yang; Hari Vankayalapati; Richard Drachtman; Vladimir Divoky; Josef T Prchal
Journal:  Blood       Date:  2013-03-28       Impact factor: 22.113

6.  PHD2 mutation and congenital erythrocytosis with paraganglioma.

Authors:  Charline Ladroue; Romain Carcenac; Michel Leporrier; Sophie Gad; Claire Le Hello; Françoise Galateau-Salle; Jean Feunteun; Jacques Pouysségur; Stéphane Richard; Betty Gardie
Journal:  N Engl J Med       Date:  2008-12-18       Impact factor: 91.245

7.  T-cell acute leukemia 1 (TAL1) regulation of erythropoietin receptor and association with excessive erythrocytosis.

Authors:  Heather Rogers; Li Wang; Xiaobing Yu; Mawadda Alnaeeli; Kairong Cui; Keji Zhao; James J Bieker; Josef Prchal; Suming Huang; Babette Weksler; Constance Tom Noguchi
Journal:  J Biol Chem       Date:  2012-09-16       Impact factor: 5.157

8.  The phenotype of polycythemia due to Croatian homozygous VHL (571C>G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C>T:R200W).

Authors:  Nikica Ljubas Tomasic; Lucie Piterkova; Chad Huff; Ernest Bilic; Donghoon Yoon; Galina Y Miasnikova; Adelina I Sergueeva; Xiaomei Niu; Sergei Nekhai; Victor Gordeuk; Josef T Prchal
Journal:  Haematologica       Date:  2013-02-12       Impact factor: 9.941

9.  Primary familial polycythemia: a frameshift mutation in the erythropoietin receptor gene and increased sensitivity of erythroid progenitors to erythropoietin.

Authors:  L Sokol; M Luhovy; Y Guan; J F Prchal; G L Semenza; J T Prchal
Journal:  Blood       Date:  1995-07-01       Impact factor: 22.113

10.  Loss of JAK2 regulation via a heterodimeric VHL-SOCS1 E3 ubiquitin ligase underlies Chuvash polycythemia.

Authors:  Ryan C Russell; Roxana I Sufan; Bing Zhou; Pardeep Heir; Severa Bunda; Stephanie S Sybingco; Samantha N Greer; Olga Roche; Samuel A Heathcote; Vinca W K Chow; Lukasz M Boba; Terri D Richmond; Michele M Hickey; Dwayne L Barber; David A Cheresh; M Celeste Simon; Meredith S Irwin; William Y Kim; Michael Ohh
Journal:  Nat Med       Date:  2011-06-19       Impact factor: 53.440
  10 in total
  4 in total

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

Authors:  Katarina Kapralova; Lucie Lanikova; Felipe Lorenzo; Jihyun Song; Monika Horvathova; Vladimir Divoky; Josef T Prchal
Journal:  Blood       Date:  2013-12-02       Impact factor: 22.113

2.  Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis.

Authors:  Sophie Couvé; Charline Ladroue; Elodie Laine; Karène Mahtouk; Justine Guégan; Sophie Gad; Hélène Le Jeune; Marion Le Gentil; Gregory Nuel; William Y Kim; Bernard Lecomte; Jean-Christophe Pagès; Christine Collin; Françoise Lasne; Patrick R Benusiglio; Brigitte Bressac-de Paillerets; Jean Feunteun; Vladimir Lazar; Anne-Paule Gimenez-Roqueplo; Nathalie M Mazure; Philippe Dessen; Luba Tchertanov; David R Mole; William Kaelin; Peter Ratcliffe; Stéphane Richard; Betty Gardie
Journal:  Cancer Res       Date:  2014-11-04       Impact factor: 12.701

3.  rs779805 Von Hippel-Lindau Gene Polymorphism Induced/Related Polycythemia Entity, Clinical Features, Cancer Association, and Familiar Characteristics.

Authors:  Gyula Remenyi; Zsuzsanna Bereczky; Réka Gindele; Aniko Ujfalusi; Arpad Illes; Miklos Udvardy
Journal:  Pathol Oncol Res       Date:  2021-11-26       Impact factor: 3.201

4.  An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma.

Authors:  Lucy Gossage; Douglas E V Pires; Álvaro Olivera-Nappa; Juan Asenjo; Mark Bycroft; Tom L Blundell; Tim Eisen
Journal:  Hum Mol Genet       Date:  2014-06-26       Impact factor: 6.150
  4 in total

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