Literature DB >> 32815883

Congenital Anemia Phenotypes Due to KLF1 Mutations.

Andrew C Perkins1,2,3, James Bieker4.   

Abstract

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Year:  2021        PMID： 32815883      PMCID： PMC7736060          DOI： 10.1097/MPH.0000000000001915

Source DB:  PubMed          Journal:  J Pediatr Hematol Oncol        ISSN： 1077-4114            Impact factor:   1.170


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  13 in total

1.  KLF1-null neonates display hydrops fetalis and a deranged erythroid transcriptome.

Authors:  Graham W Magor; Michael R Tallack; Kevin R Gillinder; Charles C Bell; Naomi McCallum; Bronwyn Williams; Andrew C Perkins
Journal:  Blood       Date:  2015-02-27       Impact factor: 22.113

2.  Major erythrocyte membrane protein genes in EKLF-deficient mice.

Authors:  Douglas G Nilson; Denise E Sabatino; David M Bodine; Patrick G Gallagher
Journal:  Exp Hematol       Date:  2006-06       Impact factor: 3.084

3.  Compound heterozygosity for KLF1 mutations is associated with microcytic hypochromic anemia and increased fetal hemoglobin.

Authors:  Jiwei Huang; Xinhua Zhang; Dun Liu; Xiaofeng Wei; Xuan Shang; Fu Xiong; Lihua Yu; Xiaolin Yin; Xiangmin Xu
Journal:  Eur J Hum Genet       Date:  2015-01-14       Impact factor: 4.246

4.  A Krüppel-like factor 1 (KLF1) Mutation Associated with Severe Congenital Dyserythropoietic Anemia Alters Its DNA-Binding Specificity.

Authors:  Klaudia Kulczynska; James J Bieker; Miroslawa Siatecka
Journal:  Mol Cell Biol       Date:  2020-02-12       Impact factor: 4.272

Review 5.  Erythroid transcription factor EKLF/KLF1 mutation causing congenital dyserythropoietic anemia type IV in a patient of Taiwanese origin: review of all reported cases and development of a clinical diagnostic paradigm.

Authors:  Julie A Jaffray; W Beau Mitchell; Merlin Nithya Gnanapragasam; Surya V Seshan; Xinhuo Guo; Connie M Westhoff; James J Bieker; Deepa Manwani
Journal:  Blood Cells Mol Dis       Date:  2013-03-20       Impact factor: 3.039

6.  KLF1 mutations are relatively more common in a thalassemia endemic region and ameliorate the severity of β-thalassemia.

Authors:  Dun Liu; Xinhua Zhang; Lihua Yu; Ren Cai; Xiaoxia Ma; Chengguang Zheng; Yuqiu Zhou; Qiji Liu; Xiaofeng Wei; Li Lin; Tizhen Yan; Jiwei Huang; Narla Mohandas; Xiuli An; Xiangmin Xu
Journal:  Blood       Date:  2014-05-14       Impact factor: 22.113

7.  A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia.

Authors:  Lionel Arnaud; Carole Saison; Virginie Helias; Nicole Lucien; Dominique Steschenko; Marie-Catherine Giarratana; Claude Prehu; Bernard Foliguet; Lory Montout; Alexandre G de Brevern; Alain Francina; Pierre Ripoche; Odile Fenneteau; Lydie Da Costa; Thierry Peyrard; Gail Coghlan; Niels Illum; Henrik Birgens; Hannah Tamary; Achille Iolascon; Jean Delaunay; Gil Tchernia; Jean-Pierre Cartron
Journal:  Am J Hum Genet       Date:  2010-11-04       Impact factor: 11.025

8.  A case of congenital dyserythropoietic anemia type IV.

Authors:  Silvia de-la-Iglesia-Iñigo; María-Isabel Moreno-Carralero; Angelina Lemes-Castellano; Teresa Molero-Labarta; Manuel Méndez; María-José Morán-Jiménez
Journal:  Clin Case Rep       Date:  2017-01-28

Review 9.  Krüppeling erythropoiesis: an unexpected broad spectrum of human red blood cell disorders due to KLF1 variants.

Authors:  Andrew Perkins; Xiangmin Xu; Douglas R Higgs; George P Patrinos; Lionel Arnaud; James J Bieker; Sjaak Philipsen
Journal:  Blood       Date:  2016-02-22       Impact factor: 22.113

10.  Mutations in Kruppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression.

Authors:  Vip Viprakasit; Supachai Ekwattanakit; Suchada Riolueang; Nipon Chalaow; Chris Fisher; Karen Lower; Hitoshi Kanno; Kalaya Tachavanich; Sasithorn Bejrachandra; Jariya Saipin; Monthana Juntharaniyom; Kleebsabai Sanpakit; Voravarn S Tanphaichitr; Duantida Songdej; Christian Babbs; Richard J Gibbons; Sjaak Philipsen; Douglas R Higgs
Journal:  Blood       Date:  2014-01-17       Impact factor: 22.113
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