Varaico: Literature-Extracted Genetic Variants

Gene:CDAN1
Variant:p.R1042W
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CDAN1

NM_138477.4:p.R1042W

Associated Papers

Telomere Length and Genetic Variations in Acquired Pediatric Aplastic Anemia: A Flow-FISH Study in Korean Patients.

Hong Y et al.

Diagnostics (basel, Switzerland), 2025

CODANIN-1 sequesters ASF1 by using a histone H3 mimic helix to regulate the histone supply.

Jeong TK et al.

Nature Communications, 2025

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

Scott C et al.

Haematologica, 2021

Genetic and functional insights into CDA-I prevalence and pathogenesis.

Olijnik AA et al.

Journal of Medical Genetics, 2021

Codanin-1 mutations engineered in human erythroid cells demonstrate role of CDAN1 in terminal erythroid maturation.

Murphy ZC et al.

Experimental Hematology, 2020

A complex comprising C15ORF41 and Codanin-1: the products of two genes mutated in congenital dyserythropoietic anaemia type I (CDA-I).

Shroff M et al.

The Biochemical Journal, 2020

Characterization of the interactions between Codanin-1 and C15Orf41, two proteins implicated in congenital dyserythropoietic anemia type I disease.

Swickley G et al.

Bmc Molecular and Cell Biology, 2020

The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I.

Roy NBA et al.

British Journal of Haematology, 2019

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

Meznarich JA et al.

Blood Cells, Molecules & Diseases, 2018

Morphological features of congenital dyserythropoietic anemia type I: The role of electron microscopy in diagnosis.

Resnitzky P et al.

European Journal of Haematology, 2017

Morbidity and mortality of adult patients with congenital dyserythropoietic anemia type I.

Shalev H et al.

European Journal of Haematology, 2017

A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias.

Roy NB et al.

British Journal of Haematology, 2016

Acute Liver Failure in a Pediatric Patient with Congenital Dysery-Thropoietic Anemia Type I Treated with Deferasirox.

Ling G et al.

Hematology Reports, 2015

A novel epsilon gamma delta beta thalassemia presenting with pregnancy complications and severe neonatal anemia.

Shalev H et al.

European Journal of Haematology, 2013

Codanin-1, mutated in the anaemic disease CDAI, regulates Asf1 function in S-phase histone supply.

Ask K et al.

The Embo Journal, 2012

Codanin-1, the protein encoded by the gene mutated in congenital dyserythropoietic anemia type I (CDAN1), is cell cycle-regulated.

Noy-Lotan S et al.

Haematologica, 2009

Congenital dyserythropoietic anaemia, type I, in a Caucasian patient with retinal angioid streaks (homozygous Arg1042Trp mutation in codanin-1).

Tamary H et al.

European Journal of Haematology, 2008

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."