该基因的突变会导致常染色体隐性遗传性III型先天性红细胞生成异常性贫血。 - Suppr

Mutations in the gene cause autosomal recessive congenital dyserythropoietic anemia type III.

作者信息

Hernández Gonzalo, Romero-Cortadellas Lídia, Ferrer-Cortès Xènia, Venturi Veronica, Dessy-Rodriguez Mercedes, Olivella Mireia, Husami Ammar, De Soto Concepción Pérez, Morales-Camacho Rosario M, Villegas Ana, González-Fernández Fernando-Ataulfo, Morado Marta, Kalfa Theodosia A, Quintana-Bustamante Oscar, Pérez-Montero Santiago, Tornador Cristian, Segovia Jose-Carlos, Sánchez Mayka

机构信息

Department of Basic Sciences, Iron metabolism: Regulation and Diseases Group. Universitat Internacional de Catalunya (UIC). Sant Cugat del Vallès, 08195, Spain; BloodGenetics S.L. Diagnostics in Inherited Blood Diseases. Esplugues de Llobregat, 08950.

Department of Basic Sciences, Iron metabolism: Regulation and Diseases Group. Universitat Internacional de Catalunya (UIC). Sant Cugat del Vallès, 08195.

出版信息

Haematologica. 2023 Feb 1;108(2):581-587. doi: 10.3324/haematol.2022.281277.

DOI:10.3324/haematol.2022.281277

PMID:36200420

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9890003/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dce6/9890003/8046ffe88b9f/108581.fig1.jpg

相似文献

Mutations in the gene cause autosomal recessive congenital dyserythropoietic anemia type III.

Haematologica. 2023 Feb 1;108(2):581-587. doi: 10.3324/haematol.2022.281277.

Fetal presentation of congenital dyserythropoietic anemia type 1 with novel compound heterozygous CDAN1 mutations.

Blood Cells Mol Dis. 2018 Jul;71:63-66. doi: 10.1016/j.bcmd.2018.03.002. Epub 2018 Mar 20.

Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship.

Haematologica. 2010 May;95(5):708-15. doi: 10.3324/haematol.2009.014985. Epub 2009 Dec 16.

Distal limb anomalies in patients with congenital dyserythropoietic anemia.

Am J Med Genet A. 2017 Feb;173(2):487-490. doi: 10.1002/ajmg.a.38012. Epub 2016 Oct 19.

Congenital dyserythropoietic anemia type 1 with a novel mutation in the CDAN1 gene previously diagnosed as congenital hemolytic anemia.

Int J Hematol. 2013 May;97(5):650-3. doi: 10.1007/s12185-013-1338-4. Epub 2013 Apr 19.

Congenital dyserythropoietic anemia type III.

Haematologica. 2000 Jul;85(7):753-7.

Congenital dyserythropoietic anemia type II mimicking hereditary spherocytosis in Indian patient with SEC23B-Y462C mutations.

Ann Hematol. 2017 Dec;96(12):2135-2139. doi: 10.1007/s00277-017-3116-5. Epub 2017 Sep 7.

Hereditary hemochromatosis in a patient with congenital dyserythropoietic anemia.

Blood. 2000 Nov 15;96(10):3653-5.

Congenital dyserythropoietic anemia type II: molecular basis and clinical aspects.

Haematologica. 1996 Nov-Dec;81(6):543-59.

[Diagnosis and genetics of congenital dyserythropoietic anemias (CDA)].

Klin Padiatr. 2000 Jul-Aug;212(4):153-8. doi: 10.1055/s-2000-9669.

引用本文的文献

Mechanism of ASF1 engagement by CDAN1.

Nat Commun. 2025 Mar 16;16(1):2599. doi: 10.1038/s41467-025-57950-z.

Hereditary disorders of ineffective erythropoiesis.

Blood Cells Mol Dis. 2025 Mar;111:102910. doi: 10.1016/j.bcmd.2025.102910. Epub 2025 Feb 7.

Mechanism of ASF1 Inhibition by CDAN1.

bioRxiv. 2024 Aug 8:2024.08.08.607204. doi: 10.1101/2024.08.08.607204.

New Cases and Mutations in Gene Causing Congenital Dyserythropoietic Anemia Type II.

Int J Mol Sci. 2023 Jun 9;24(12):9935. doi: 10.3390/ijms24129935.

本文引用的文献

RACGAP1 variants in a sporadic case of CDA III implicate the dysfunction of centralspindlin as the basis of the disease.

Blood. 2022 Mar 3;139(9):1413-1418. doi: 10.1182/blood.2021012334.

Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR).

Blood Cells Mol Dis. 2021 Mar;87:102534. doi: 10.1016/j.bcmd.2020.102534. Epub 2020 Dec 24.

G Protein-Coupled Estrogen Receptor Regulates Actin Cytoskeleton Dynamics to Impair Cell Polarization.

Front Cell Dev Biol. 2020 Oct 22;8:592628. doi: 10.3389/fcell.2020.592628. eCollection 2020.

Congenital dyserythropoietic anemia types Ib, II, and III: novel variants in the CDIN1 gene and functional study of a novel variant in the KIF23 gene.

Ann Hematol. 2021 Feb;100(2):353-364. doi: 10.1007/s00277-020-04319-5. Epub 2020 Nov 7.

Cell Division: Switching On ECT2 in a Non-Canonical Fashion.

Curr Biol. 2020 Aug 17;30(16):R947-R949. doi: 10.1016/j.cub.2020.06.073.

Non-myeloablative allogeneic stem cell transplant with post-transplant cyclophosphamide cures the first adult patient with congenital dyserythropoietic anemia.

Bone Marrow Transplant. 2017 Jun;52(6):905-906. doi: 10.1038/bmt.2017.17. Epub 2017 Mar 20.

Diagnosis and management of congenital dyserythropoietic anemias.

Expert Rev Hematol. 2016 Mar;9(3):283-96. doi: 10.1586/17474086.2016.1131608. Epub 2016 Jan 6.

Skull erythropoiesis in a patient with congenital dyserythropoietic anaemia.

Lancet. 2016 Feb 20;387(10020):787. doi: 10.1016/S0140-6736(15)00054-9. Epub 2015 Aug 28.

Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23.

Blood. 2013 Jun 6;121(23):4791-9. doi: 10.1182/blood-2012-10-461392. Epub 2013 Apr 9.

Centralspindlin: at the heart of cytokinesis.

Cytoskeleton (Hoboken). 2012 Nov;69(11):882-92. doi: 10.1002/cm.21065. Epub 2012 Sep 21.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

Mutations in the gene cause autosomal recessive congenital dyserythropoietic anemia type III.

作者信息

机构信息

出版信息

相似文献

引用本文的文献

本文引用的文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

相似文献

引用本文的文献

本文引用的文献