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

Blood
Andrew PerkinsKLF1 Consensus Workgroup

Abstract

Until recently our approach to analyzing human genetic diseases has been to accurately phenotype patients and sequence the genes known to be associated with those phenotypes; for example, in thalassemia, the globin loci are analyzed. Sequencing has become increasingly accessible, and thus a larger panel of genes can be analyzed and whole exome and/or whole genome sequencing can be used when no variants are found in the candidate genes. By using such approaches in patients with unexplained anemias, we have discovered that a broad range of hitherto unrelated human red cell disorders are caused by variants in KLF1, a master regulator of erythropoiesis, which were previously considered to be extremely rare causes of human genetic disease.

References

Jan 27, 1995·The Journal of Biological Chemistry·D DonzeJ J Bieker
Oct 29, 1996·Proceedings of the National Academy of Sciences of the United States of America·A C PerkinsS H Orkin
Nov 15, 1996·Genes & Development·M WijgerdeP Fraser
Aug 26, 1998·Proceedings of the National Academy of Sciences of the United States of America·W Zhang, J J Bieker
Apr 5, 2001·Molecular and Cellular Biology·X Chen, J J Bieker
Jun 1, 2005·Molecular and Cellular Biology·Roy DrissenSjaak Philipsen
Dec 29, 2005·Blood·Denise HodgeAndrew Perkins
May 27, 2006·Experimental Hematology·Douglas G NilsonPatrick G Gallagher
Feb 7, 2007·Molecular and Cellular Biology·Alister P W FunnellMerlin Crossley
Aug 24, 2007·Blood·Pilar FronteloJames J Bieker
Oct 17, 2007·Molecular and Cellular Biology·Miroslawa SiateckaJames J Bieker
Mar 11, 2008·Experimental Cell Research·Karen J QuadriniJames J Bieker
Apr 16, 2008·British Journal of Haematology·D J Weatherall
Aug 9, 2008·The Journal of Biological Chemistry·Sally A EatonMerlin Crossley
May 22, 2009·The Journal of Biological Chemistry·Michael R TallackAndrew C Perkins
May 29, 2010·Genome Research·Michael R TallackAndrew C Perkins
Aug 11, 2010·Proceedings of the National Academy of Sciences of the United States of America·Miroslawa SiateckaLuanne L Peters
Dec 31, 2010·IUBMB Life·Michael R Tallack, Andrew C Perkins
May 27, 2011·Blood·Miroslawa Siatecka, James J Bieker
Jun 15, 2011·Proceedings of the National Academy of Sciences of the United States of America·Caroline MasJames G Omichinski
Aug 9, 2011·Blood·Lucia PerseuRenzo Galanello
Nov 19, 2011·Blood Cells, Molecules & Diseases·Stefania SattaRenzo Galanello
Jul 28, 2012·Genome Research·Michael R TallackAndrew C Perkins
Oct 12, 2012·PloS One·Aurelie D DesgardinJohn M Cunningham
Mar 12, 2013·Current Opinion in Hematology·Michael R Tallack, Andrew C Perkins
Apr 3, 2013·Cell Research·Bin ShenXingxu Huang

❮ Previous
Next ❯

Citations

Jun 28, 2016·Experimental Hematology·Ah Ram Kim, Vijay G Sankaran
Feb 18, 2017·Current Opinion in Hematology·Laxminath Tumburu, Swee Lay Thein
Feb 6, 2017·Current Opinion in Hematology·Merlin Nithya Gnanapragasam, James J Bieker
Apr 16, 2017·Experimental Hematology·Andrea A PerreaultBryan J Venters
Feb 3, 2018·International Journal of Laboratory Hematology·L-Y HuangD-Z Li
Apr 24, 2018·Transfusion·Kevin GillinderAndrew Perkins
May 9, 2018·Hemoglobin·Hai-Shen TangDong-Zhi Li
Jan 5, 2018·Journal of Pediatric Hematology/oncology·Yaddanapudi RavindranathPatrick G Gallagher
Apr 12, 2018·Annual Review of Genomics and Human Genetics·Thomas N Williams, Swee Lay Thein
Sep 18, 2018·Transfusion·Nicole S FraserRobert L Flower
Jul 1, 2017·Blood·Beeke WienertMerlin Crossley
Mar 25, 2020·Current Opinion in Hematology·Christian Brendel, David A Williams
Dec 13, 2017·Cell Death and Differentiation·Maria Francesca ManchinuMaria Serafina Ristaldi
Aug 9, 2018·Frontiers in Physiology·Kat S Moore, Marieke von Lindern
Jun 20, 2020·Blood·Lily Jun-Shen Huang, James J Bieker
Nov 2, 2016·Expert Review of Hematology·Orapan Sripichai, Suthat Fucharoen
Sep 27, 2018·Nature Immunology·Hiroki KatoKazuhiko Igarashi
Feb 28, 2019·Frontiers in Physiology·Gloria BarbaraniAntonella E Ronchi
May 26, 2017·Nucleic Acids Research·Melissa D IlsleyAndrew C Perkins
Jan 26, 2017·Frontiers in Oncology·Atsushi Hasegawa, Ritsuko Shimizu
Dec 2, 2017·British Journal of Haematology·Divya S VinjamurStuart H Orkin
Dec 23, 2016·Nucleic Acids Research·Jennifer YangSherman Morton Weissman
Apr 28, 2018·Scientific Reports·Merlin Nithya GnanapragasamJames J Bieker
Aug 21, 2020·Journal of Pediatric Hematology/oncology·Andrew C Perkins, James Bieker

❮ Previous
Next ❯

Related Concepts

Related Feeds

Anemia

Anemia develops when your blood lacks enough healthy red blood cells. Anemia of inflammation (AI, also called anemia of chronic disease) is a common, typically normocytic, normochromic anemia that is caused by an underlying inflammatory disease. Here is the latest research on anemia.

Related Papers

The Journal of Headache and Pain
Laura Aviaja RudkjobingJes Olesen
Rinshō shinkeigaku = Clinical neurology
Karen Nuytemans, Jeffery M Vance
© 2022 Meta ULC. All rights reserved