Congenital dyserythropoietic anemia
|
0.390 |
Biomarker
|
disease |
BEFREE |
We suggest that similar to congenital dyserythropoietic anemia type I, distal anomalies may appear in some patients with congenital dyserythropoietic anemia types II and III.
|
27759939 |
2017 |
Congenital dyserythropoietic anemia
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
Sequence analysis of CDA-related genes revealed that the proband with CDA Ι in the first family was a compound heterozygote of CDAN1 with mutation IVS-12+2T>C and c. 3389C>T, while both probands with CDA ΙΙ in the second family were a homozygote of the SEC23B gene with mutation c.938G>A (R313H).
|
24196372 |
2014 |
Congenital dyserythropoietic anemia
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
The unveiling of the genes mutated in the major CDA subgroups (I-CDAN1 and II-SEC23B) has now been completed with the recent identification of the CDA III gene (KIF23).
|
23940284 |
2013 |
Congenital dyserythropoietic anemia
|
0.390 |
Biomarker
|
disease |
BEFREE |
Some altered proteins seem to be involved in the chromatin assembly, such as codanin-1 in congenital dyserythropoietic anemia I.
|
23065504 |
2012 |
Congenital dyserythropoietic anemia
|
0.390 |
Biomarker
|
disease |
BEFREE |
The first CDA partly accounted for genetically has been CDA 1, through the discovery in 2002 of the gene responsible, CDAN1, encoding codanin-1.
|
21378561 |
2011 |
Congenital dyserythropoietic anemia
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
Congenital dyserythropoietic anemia in a Chinese family with a mutation of the CDAN1-gene.
|
18575862 |
2008 |
Congenital dyserythropoietic anemia
|
0.390 |
GeneticVariation
|
disease |
LHGDN |
Congenital dyserythropoietic anemia in a Chinese family with a mutation of the CDAN1-gene.
|
18575862 |
2008 |
Congenital dyserythropoietic anemia
|
0.390 |
GeneticVariation
|
disease |
LHGDN |
CDA type I (CDAI [MIM 224120], gene symbol CDAN1) is characterized by erythroid pathological features such as internuclear chromatin bridges, spongy heterochromatin, and invagination of the nuclear membrane, carrying cytoplasmic organelles into the nucleus.
|
12434312 |
2002 |
Congenital dyserythropoietic anemia
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
CDA type I (CDAI [MIM 224120], gene symbol CDAN1) is characterized by erythroid pathological features such as internuclear chromatin bridges, spongy heterochromatin, and invagination of the nuclear membrane, carrying cytoplasmic organelles into the nucleus.
|
12434312 |
2002 |
Congenital dyserythropoietic anemia
|
0.390 |
Biomarker
|
disease |
BEFREE |
Three main types of CDA have been distinguished: CDA I and CDA III, whose loci have been already mapped, and CDA II (MIM 224100), the most frequent among CDAs, which is transmitted as an autosomal recessive trait and is known also as "HEMPAS" (hereditary erythroblast multinuclearity with positive acidified serum).
|
9345103 |
1997 |
Congenital dyserythropoietic anemia
|
0.390 |
Biomarker
|
disease |
BEFREE |
Neither deficiency of CD44 nor absence of Colton antigens are general features of CDA because erythrocytes from patients with CDA I, CDA II, CDA III, and two other unclassified CDAs had normal expression of CD44 and normal Colton blood group phenotypes.
|
7507739 |
1994 |
Congenital dyserythropoietic anemia
|
0.390 |
Biomarker
|
disease |
CTD_human |
|
|
|