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Select item 60920921.

KLF1 E325K-associated Congenital Dyserythropoietic Anemia Type IV: Insights Into the Variable Clinical Severity

Yaddanapudi Ravindranath, Robert M. Johnson, Gerard Goyette, Steven Buck, Manisha Gadgeel, Patrick G. Gallagher

J Pediatr Hematol Oncol. 2018 Aug; 40(6): e405–e409. Published online 2018 Jul 25. doi: 10.1097/MPH.0000000000001056

PMCID:: PMC6092092

Abstract Article PDF–289K

Select item 53312612.

A case of congenital dyserythropoietic anemia type IV

Silvia de‐ la‐ Iglesia‐ Iñigo, María‐Isabel Moreno‐Carralero, Angelina Lemes‐Castellano, Teresa Molero‐Labarta, Manuel Méndez, María‐José Morán‐Jiménez

Clin Case Rep. 2017 Mar; 5(3): 248–252. Published online 2017 Jan 28. doi: 10.1002/ccr3.825

PMCID:: PMC5331261

Abstract Article PDF–281K

Select item 45600933.

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

Julie A. Jaffray, W. Beau Mitchell, Merlin Nithya Gnanapragasam, Surya V Seshan, Xinhuo Guo, Connie M. Westhoff, James J. Bieker, Deepa Manwani

Blood Cells Mol Dis. Author manuscript; available in PMC 2015 Sep 4.

Published in final edited form as: Blood Cells Mol Dis. 2013 Aug; 51(2): 71–75. Published online 2013 Mar 20. doi: 10.1016/j.bcmd.2013.02.006

PMCID:: PMC4560093

Abstract Article PDF–639K

Select item 103156264.

A novel human cellular model of CDA IV enables comprehensive analysis revealing the molecular basis of the disease phenotype

Ivan Ferrer-Vicens, Daniel C. J. Ferguson, Marieangela C. Wilson, Kate J. Heesom, James J. Bieker, Jan Frayne

Blood. 2023 Jun 22; 141(25): 3039–3054. Published online 2023 Apr 25. doi: 10.1182/blood.2022018735

PMCID:: PMC10315626

Abstract Article

Select item 101997825.

Severe anemia caused by dominant mutations in Krüppel-like factor 1 (KLF1)

Klaudia Kulczynska-Figurny, James J. Bieker, Miroslawa Siatecka

Mutat Res Rev Mutat Res. Author manuscript; available in PMC 2023 May 20.

Published in final edited form as: Mutat Res Rev Mutat Res. 2020 Oct-Dec; 786: 108336. Published online 2020 Oct 9. doi: 10.1016/j.mrrev.2020.108336

PMCID:: PMC10199782

Abstract Article PDF–960K

Select item 78495586.

Hemoglobin switching in mice carrying the Klf1Nan variant

Anne Korporaal, Nynke Gillemans, Steven Heshusius, Ileana Cantu, Emile van den Akker, Thamar B. van Dijk, Marieke von Lindern, Sjaak Philipsen

Haematologica. 2021 Feb 1; 106(2): 464–473. Published online 2020 May 28. doi: 10.3324/haematol.2019.239830

PMCID:: PMC7849558

Abstract Article PDF–1.6M

Select item 70206427.

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

Klaudia Kulczynska, James J. Bieker, Miroslawa Siatecka

Mol Cell Biol. 2020 Mar; 40(5): e00444-19. Prepublished online 2019 Dec 9. Published online 2020 Feb 12. doi: 10.1128/MCB.00444-19

PMCID:: PMC7020642

Abstract Article PDF–4.2M

Select item 69591638.

Genetic disarray follows mutant KLF1-E325K expression in a congenital dyserythropoietic anemia patient

Lilian Varricchio, Antanas Planutis, Deepa Manwani, Julie Jaffray, W. Beau Mitchell, Anna Rita Migliaccio, James J. Bieker

Haematologica. 2019 Dec; 104(12): 2372–2380. Prepublished online 2019 Mar 14. doi: 10.3324/haematol.2018.209858

PMCID:: PMC6959163

Abstract Article PDF–2.3M

Select item 65348599.

Corrupted DNA-binding specificity and ectopic transcription underpin dominant neomorphic mutations in KLF/SP transcription factors

Melissa D. Ilsley, Stephen Huang, Graham W. Magor, Michael J. Landsberg, Kevin R. Gillinder, Andrew C. Perkins

BMC Genomics. 2019; 20: 417. Published online 2019 May 24. doi: 10.1186/s12864-019-5805-z

PMCID:: PMC6534859

Abstract Article PDF–5.4M

Select item 452139710.

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

Graham W. Magor, Michael R. Tallack, Kevin R. Gillinder, Charles C. Bell, Naomi McCallum, Bronwyn Williams, Andrew C. Perkins

Blood. 2015 Apr 9; 125(15): 2405–2417. Prepublished online 2015 Feb 27. doi: 10.1182/blood-2014-08-590968

PMCID:: PMC4521397

Abstract Article

Select item 1012683711.

Modelling the erythroblastic island niche of dyserythropoietic anaemia type IV patients using induced pluripotent stem cells

Alisha May, Telma Ventura, Antonella Fidanza, Helena Volmer, Helen Taylor, Nicola Romanò, Sunita L. D’Souza, James J. Bieker, Lesley M. Forrester

Front Cell Dev Biol. 2023; 11: 1148013. Published online 2023 Apr 11. doi: 10.3389/fcell.2023.1148013

PMCID:: PMC10126837

Abstract Article PDF–2.7M

Select item 1088913412.

Cloning and Characterization of Chitin Deacetylase from Euphausia superba

Xutong Wang, Jiahao Tan, Huaying Zou, Fang Wang, Jiakun Xu

Int J Mol Sci. 2024 Feb; 25(4): 2075. Published online 2024 Feb 8. doi: 10.3390/ijms25042075

PMCID:: PMC10889134

Abstract Article PDF–4.6M

Select item 1032297913.

Long-term in vivo vitamin D₃ supplementation modulates bovine IL-1 and chemokine responses

Cian Reid, Susana Flores-Villalva, Aude Remot, Emer Kennedy, Cliona O’Farrelly, Kieran G. Meade

Sci Rep. 2023; 13: 10846. Published online 2023 Jul 5. doi: 10.1038/s41598-023-37427-z

PMCID:: PMC10322979

Abstract Article PDF–4.7M

Select item 1028289814.

Seven-membered ring nucleobases as inhibitors of human cytidine deaminase and APOBEC3A

Harikrishnan M. Kurup, Maksim V. Kvach, Stefan Harjes, Geoffrey B. Jameson, Elena Harjes, Vyacheslav V. Filichev

Org Biomol Chem. 2023 Jun 21; 21(24): 5117–5128. Published online 2023 Jun 7. doi: 10.1039/d3ob00392b

PMCID:: PMC10282898

Abstract Article

Select item 902154015.

The Congenital Dyserythropoieitic Anemias: Genetics and Pathophysiology

Richard King, Patrick J. Gallagher, Rami Khoriaty

Curr Opin Hematol. Author manuscript; available in PMC 2023 May 1.

Published in final edited form as: Curr Opin Hematol. 2022 May 1; 29(3): 126–136. Published online 2021 Dec 24. doi: 10.1097/MOH.0000000000000697

PMCID:: PMC9021540

Abstract Article PDF–355K

Select item 856128416.

Recapitulation of erythropoiesis in congenital dyserythropoietic anemia type I (CDA-I) identifies defects in differentiation and nucleolar abnormalities

Caroline Scott, Damien J. Downes, Jill M. Brown, Robert A. Beagrie, Aude-Anais Olijnik, Matthew Gosden, Ron Schwessinger, Christopher A. Fisher, Anna Rose, David J.P Ferguson, Errin Johnson, Quentin A. Hill, Steven Okoli, Raffaele Renella, Kate Ryan, Marjorie Brand, Jim Hughes, Noemi B.A. Roy, Douglas R. Higgs, Christian Babbs, Veronica J. Buckle

Haematologica. 2021 Nov 1; 106(11): 2960–2970. Published online 2020 Oct 29. doi: 10.3324/haematol.2020.260158

PMCID:: PMC8561284

Abstract Article PDF–1.1M

Select item 787786117.

Effects of Bardoxolone Methyl on Hepatic Enzymes in Patients with Type 2 Diabetes Mellitus and Stage 4 CKD

James H. Lewis, Michel Jadoul, Geoffrey A. Block, Melanie P. Chin, Deborah A. Ferguson, Angie Goldsberry, Colin J. Meyer, Megan O’Grady, Pablo E. Pergola, Scott A. Reisman, W. Christian Wigley, Glenn M. Chertow

Clin Transl Sci. 2021 Jan; 14(1): 299–309. Published online 2020 Sep 3. doi: 10.1111/cts.12868

PMCID:: PMC7877861

Abstract Article PDF–776K

Select item 741992818.

Cladribine modifies functional properties of microglia

L. Ø. Jørgensen, K. H. Hyrlov, M. L. Elkjaer, A. B. Weber, A. E. Pedersen, Å. Fex Svenningsen, Z. Illes

Clin Exp Immunol. 2020 Sep; 201(3): 328–340. Published online 2020 Jul 6. doi: 10.1111/cei.13473

PMCID:: PMC7419928

Abstract Article PDF–1.3M

Select item 734301719.

先天性红细胞生成异常性贫血Ⅱ型SEC23B基因新发突变位点一例报告及文献复习

常丽贤, 竺晓凡, 王永伟, 董树旭, 赵轼轩, 茹永新

Zhonghua Xue Ye Xue Za Zhi. 2019 Apr; 40(4): 317–320. Chinese. doi: 10.3760/cma.j.issn.0253-2727.2019.04.010

PMCID:: PMC7343017

Abstract Article PDF–931K

Select item 705593720.

Influence of Genetic Variation in PDE3A on Endothelial Function and Stroke

Matthew Traylor, Ali Amin Al Olama, Leo-Pekka Lyytikäinen, Sandro Marini, Jaeyoon Chung, Rainer Malik, Martin Dichgans, Mika Kähönen, Terho Lehtimäki, Christopher D. Anderson, Olli T. Raitakari, Hugh S. Markus

Hypertension. 2020 Feb; 75(2): 365–371. Published online 2019 Dec 23. doi: 10.1161/HYPERTENSIONAHA.119.13513

PMCID:: PMC7055937

Abstract Article PDF–511K

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