Literature DB >> 30111608

Loss-of-function zinc finger mutation in the EGLN1 gene associated with erythrocytosis.

Margje Sinnema1, Daisheng Song2, Wei Guan2,3,4, Johanna W H Janssen1, Richard van Wijk5, Bradleigh E Navalsky2, Kai Peng2, Albertine E Donker6, Alexander P A Stegmann1, Frank S Lee2.   

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Year:  2018        PMID： 30111608      PMCID： PMC6161772          DOI： 10.1182/blood-2018-06-854711

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


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  22 in total

1.  Genotype-Phenotype Correlation of Hereditary Erythrocytosis Mutations, a single center experience.

Authors:  Jennifer L Oliveira; Lea M Coon; Lori A Frederick; Molly Hein; Kenneth C Swanson; Michelle E Savedra; Tavanna R Porter; Mrinal M Patnaik; Ayalew Tefferi; Animesh Pardanani; Stefan K Grebe; David S Viswanatha; James D Hoyer
Journal:  Am J Hematol       Date:  2018-05-23       Impact factor: 10.047

Review 2.  Regulation of erythropoiesis by hypoxia-inducible factors.

Authors:  Volker H Haase
Journal:  Blood Rev       Date:  2013-01-03       Impact factor: 8.250

3.  The Zinc Finger of Prolyl Hydroxylase Domain Protein 2 Is Essential for Efficient Hydroxylation of Hypoxia-Inducible Factor α.

Authors:  Patrick R Arsenault; Daisheng Song; Yu Jin Chung; Tejvir S Khurana; Frank S Lee
Journal:  Mol Cell Biol       Date:  2016-08-26       Impact factor: 4.272

Review 4.  The HIF pathway and erythrocytosis.

Authors:  Frank S Lee; Melanie J Percy
Journal:  Annu Rev Pathol       Date:  2011       Impact factor: 23.472

5.  The peptidyl prolyl cis/trans isomerase FKBP38 determines hypoxia-inducible transcription factor prolyl-4-hydroxylase PHD2 protein stability.

Authors:  Sandra Barth; Jutta Nesper; Philippe A Hasgall; Renato Wirthner; Katarzyna J Nytko; Frank Edlich; Dörthe M Katschinski; Daniel P Stiehl; Roland H Wenger; Gieri Camenisch
Journal:  Mol Cell Biol       Date:  2007-03-12       Impact factor: 4.272

6.  A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis.

Authors:  Melanie J Percy; Quan Zhao; Adrian Flores; Claire Harrison; Terence R J Lappin; Patrick H Maxwell; Mary Frances McMullin; Frank S Lee
Journal:  Proc Natl Acad Sci U S A       Date:  2006-01-09       Impact factor: 11.205

7.  Biochemical characterization of human prolyl hydroxylase domain protein 2 variants associated with erythrocytosis.

Authors:  Melissa B Pappalardi; John D Martin; Yong Jiang; Matthew C Burns; Huizhen Zhao; Thau Ho; Sharon Sweitzer; Leng Lor; Benjamin Schwartz; Kevin Duffy; Richard Gontarek; Peter J Tummino; Robert A Copeland; Lusong Luo
Journal:  Biochemistry       Date:  2008-10-04       Impact factor: 3.162

Review 8.  Oxygen sensing, hypoxia-inducible factors, and disease pathophysiology.

Authors:  Gregg L Semenza
Journal:  Annu Rev Pathol       Date:  2013-08-07       Impact factor: 23.472

Review 9.  Hypoxia-inducible factors and the response to hypoxic stress.

Authors:  Amar J Majmundar; Waihay J Wong; M Celeste Simon
Journal:  Mol Cell       Date:  2010-10-22       Impact factor: 17.970

Review 10.  The role of PHD2 mutations in the pathogenesis of erythrocytosis.

Authors:  Betty Gardie; Melanie J Percy; David Hoogewijs; Rasheduzzaman Chowdhury; Celeste Bento; Patrick R Arsenault; Stéphane Richard; Helena Almeida; Joanne Ewing; Frédéric Lambert; Mary Frances McMullin; Christopher J Schofield; Frank S Lee
Journal:  Hypoxia (Auckl)       Date:  2014-07-01
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  8 in total

1.  At the crossroads of oxygen and iron sensing: hepcidin control of HIF-2α.

Authors:  Frank S Lee
Journal:  J Clin Invest       Date:  2018-12-10       Impact factor: 14.808

Review 2.  Genetic Background of Congenital Erythrocytosis.

Authors:  Mary Frances McMullin
Journal:  Genes (Basel)       Date:  2021-07-28       Impact factor: 4.096

Review 3.  Erythrocytosis: genes and pathways involved in disease development.

Authors:  Jernej Gašperšič; Aleša Kristan; Tanja Kunej; Irena Preložnik Zupan; Nataša Debeljak
Journal:  Blood Transfus       Date:  2020-12-16       Impact factor: 3.443

4.  An Erythrocytosis-Associated Mutation in the Zinc Finger of PHD2 Provides Insights into Its Binding of p23.

Authors:  Daisheng Song; Wei Guan; Lea M Coon; Aref Al-Kali; Jennifer L Oliveira; Frank S Lee
Journal:  Hypoxia (Auckl)       Date:  2019-12-13

Review 5.  JAK2 unmutated erythrocytosis: current diagnostic approach and therapeutic views.

Authors:  Naseema Gangat; Natasha Szuber; Animesh Pardanani; Ayalew Tefferi
Journal:  Leukemia       Date:  2021-05-21       Impact factor: 11.528

Review 6.  Hypoxia Pathway Proteins are Master Regulators of Erythropoiesis.

Authors:  Deepika Watts; Diana Gaete; Diego Rodriguez; David Hoogewijs; Martina Rauner; Sundary Sormendi; Ben Wielockx
Journal:  Int J Mol Sci       Date:  2020-10-30       Impact factor: 5.923

7.  NGS Evaluation of a Bernese Cohort of Unexplained Erythrocytosis Patients.

Authors:  Katarzyna Aleksandra Jalowiec; Kristina Vrotniakaite-Bajerciene; Annina Capraru; Tatiana Wojtovicova; Raphael Joncourt; Alicia Rovó; Naomi A Porret
Journal:  Genes (Basel)       Date:  2021-12-04       Impact factor: 4.096

8.  Cystathione β-synthase regulates HIF-1α stability through persulfidation of PHD2.

Authors:  Anindya Dey; Shubhangi Prabhudesai; Yushan Zhang; Geeta Rao; Karthikeyan Thirugnanam; Md Nazir Hossen; Shailendra Kumar Dhar Dwivedi; Ramani Ramchandran; Priyabrata Mukherjee; Resham Bhattacharya
Journal:  Sci Adv       Date:  2020-07-03       Impact factor: 14.957
  8 in total

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