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ProteomicsInherited anemia-associated mutations disrupt Codanin1 and CDIN1 mutual direct binding
Congenital dyserythropoietic anemia type I (CDA-I) is a rare hereditary disease that causes ineffective erythropoiesis and morphological abnormalities in bone marrow erythroblasts. The congenital abnormalities are manifested by internuclear bridges and Swiss-cheese-like heterochromatin. CDA-I is as...
ORGANISM(S): Homo sapiens (Human) 
2026-09-07 | PXD037661 | Pride
Rare diseases Cdin1 Lc-msms C15orf41 Codanin1 Congenital dyserythropoietic anemia Hdx-ms 
GenomicsGenetic disarray follows mutant KLF1-E325K expression in a congenital dyserythropoietic anemia patient
Genetic disarray follows mutant KLF1-E325K expression in a congenital dyserythropoietic anemia patient
PRJNA528630 | ENA
UnknownRare congenital Dyserythropoietic anemia of childhood: A case report.
Not available
S-EPMC9932249 | biostudies-literature
TranscriptomicsGene expression profile of erythroblastic cells induced from congenital dyserythropoietic anemia (CDA) patient-derived induced pluripotent stem cells
Analysis of erythroblastic cells differentiated from induced pluripotent stem cells (iPSCs) generated from peripheral blood T lymphocytes of CDA type IV patient. Type IV congenital dyserythropoietic anemia (CDA) is due to a monoallelic mutation at the second zinc finger of KLF1 (c.973G>A). Results p...
ORGANISM(S): Homo sapiens 
2019-03-04 | GSE102985 | GEO
UnknownCongenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR).
Not available
S-EPMC8809105 | biostudies-literature
UnknownKLF1 E325K-associated Congenital Dyserythropoietic Anemia Type IV: Insights Into the Variable Clinical Severity.
Not available
S-EPMC6092092 | biostudies-literature
UnknownCoDysAn: A Telemedicine Tool to Improve Awareness and Diagnosis for Patients With Congenital Dyserythropoietic Anemia.
Not available
S-EPMC6753183 | biostudies-literature
UnknownSEC23A rescues SEC23B-deficient congenital dyserythropoietic anemia type II.
Not available
S-EPMC8612686 | biostudies-literature
UnknownA case of congenital dyserythropoietic anemia type IV.
Not available
S-EPMC5331261 | biostudies-literature
UnknownAn EHPB1L1 Nonsense Mutation Associated with Congenital Dyserythropoietic Anemia and Polymyopathy in Labrador Retriever Littermates.
Not available
S-EPMC9407898 | biostudies-literature
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