|
Congenital dyserythropoietic anemia, type I
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
Mutations in Codanin-1 can cause congenital dyserythropoietic anaemia type I (CDAI), characterized by chromatin abnormalities in bone marrow erythroblasts.
|
22407294 |
2012 |
|
Congenital dyserythropoietic anemia, type I
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
Codanin-1 mutations in congenital dyserythropoietic anemia type 1 affect HP1{alpha} localization in erythroblasts.
|
21364188 |
2011 |
|
Congenital dyserythropoietic anemia, type I
|
0.780 |
AlteredExpression
|
disease |
BEFREE |
The mutated gene (CDAN1) encodes a ubiquitously expressed protein of unknown function, codanin-1.
|
19336738 |
2009 |
|
Congenital dyserythropoietic anemia, type I
|
0.780 |
Biomarker
|
disease |
BEFREE |
To analyze the relative frequency of both light microscopic (LM) and electron microscopic (EM) morphological features of erythroblasts in a large group of patients with molecular proven congenital dyserythropoietic anemia type I (CDAI).
|
28755517 |
2017 |
|
Congenital dyserythropoietic anemia, type I
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
This case report documents a severe fetal presentation of CDA1 where we identified two novel compound heterozygous mutations in CDAN1 and describes the associated pathologic findings and levels of iron-regulatory proteins hepcidin, erythroferrone, and GDF15.
|
29599085 |
2018 |
|
Congenital dyserythropoietic anemia, type I
|
0.780 |
Biomarker
|
disease |
BEFREE |
In the course of positional cloning of the Congenital Dyserythropoietic Anemia type I (CDAI) [MIM 224120] gene on 15q15.1-15.3, we examined a family of French origin, in which the propositus suffered from asthenoteratozoospermia and nonsyndromic deafness in addition to CDAI.
|
12825070 |
2003 |
|
Congenital dyserythropoietic anemia, type I
|
0.780 |
Biomarker
|
disease |
BEFREE |
Congenital dyserythropoietic anemia type I (CDAI) is a rare autosomal recessive disease characterized by macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis.
|
27206021 |
2017 |
|
Congenital dyserythropoietic anemia, type I
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
Congenital dyserythropoietic anemia type 1 with a novel mutation in the CDAN1 gene previously diagnosed as congenital hemolytic anemia.
|
23605369 |
2013 |
|
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 |
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 |
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Congenital dyserythropoietic anemia in a Chinese family with a mutation of the CDAN1-gene.
|
18575862 |
2008 |
|
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 |
|
Crohn Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
The main outcomes selected for GRADE analysis were clinical remission at week 8 (Crohn's Disease Activity Index [CDAI] ≤150), clinical response at week 8 (CDAI reduction ≥ 100 or clinical remission), and serious adverse events.
|
31476018 |
2019 |
|
Crohn Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
At the end of treatment.47% (7 of 15) of ISIS 2302-treated and 20% (1 of 5) of the placebo-treated patients were in remission (Crohn's Disease Activity Index [CDAI] < 150).
|
9609749 |
1998 |
|
Crohn Disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Primary outcome was clinical remission (Crohn's disease activity index [CDAI]<150, Mayo Clinic Score <3); secondary outcomes were clinical response and mucosal healing.
|
29788260 |
2018 |
|
Crohn Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
The primary outcome for this analysis was 3-month steroid-free clinical remission at 1 year after HSCT (Crohn's Disease Activity Index [CDAI] <150).
|
28497755 |
2017 |
|
Crohn Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
SNPs were genotyped (TaqMan) in two cohorts ( n= 90 and n= 444 (ACCENT I)) of active Crohn's disease patients (CDAI 220-450).
|
12360101 |
2002 |
|
Crohn Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Patients who did not achieve deep remission, defined as clinical remission (Crohn's Disease Activity Index [CDAI] <150) and endoscopic remission (Crohn's Disease Endoscopic Index of Severity [CDEIS] ≤4, or ≤2 for patients with isolated ileitis), at week 12 received open-label intravenous therapy with 600 mg risankizumab every 4 weeks for 12 weeks; patients in deep remission at week 12 entered a 12-week washout phase.
|
30056030 |
2018 |
|
Crohn Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
The patients with moderate-to-severe active CD had a statistically significant higher value of CDAI and hsCRP concentrations compared to those being in the asymptomatic remission or at the mildly active stage of the disease.
|
31646581 |
2019 |
|
Crohn Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Patients with active CD of the terminal ileum (CD activity index, CDAI, > 150; n = 14), patients with CD in remission (CDAI < 150 n = 10), first-degree relatives of the CD patients (n = 21) and healthy controls (n = 43) were orally intubated with a catheter allowing occlusion and perfusion of a segment of the proximal jejunum.
|
1426699 |
1992 |