|
Diamond-Blackfan Anemia 1
|
0.690 |
Biomarker
|
disease |
BEFREE |
Hazard ratios for these lectins were (+1 SD for the glycan index) as follows: SNA (recognizing glycan Siaα2-6Gal/GalNAc), 1.42 (95% CI 1.14-1.76); RCA120 (Galβ4GlcNAc), 1.28 (1.01-1.64); DBA (GalNAcα3GalNAc), 0.80 (0.64-0.997); ABA (Galβ3GalNAc), 1.29 (1.02-1.64); Jacalin (Galβ3GalNAc), 1.30 (1.02-1.67); and ACA (Galβ3GalNAc), 1.32 (1.04-1.67).
|
29930140 |
2018 |
|
Diamond-Blackfan Anemia 1
|
0.690 |
Biomarker
|
disease |
BEFREE |
The present analyses demonstrate that Rpl11-deficient zebrafish may serve as a model of DBA and may provide insights into the pathogenesis of mutant RPL11-mediated human DBA disease.
|
24341334 |
2013 |
|
Diamond-Blackfan Anemia 1
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
As RP mutations are yet to be identified in approximately 50% of DBA cases, it is likely that other yet to be identified genes involved in ribosomal biogenesis or other pathways may be responsible for DBA phenotype.
|
20655265 |
2010 |
|
Diamond-Blackfan Anemia 1
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
DBA has been associated with mutations in seven ribosomal protein (RP) genes, RPS19, RPS24, RPS17, RPL35A, RPL5, RPL11, and RPS7, in about 43% of patients.
|
20116044 |
2010 |
|
Diamond-Blackfan Anemia 1
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
Deletions of chromosome 19 have rarely been reported, with the exception of some patients with deletion 19q13.2 and Blackfan-Diamond syndrome due to haploinsufficiency of the RPS19 gene.
|
19126570 |
2009 |
|
Diamond-Blackfan Anemia 1
|
0.690 |
GeneticVariation
|
disease |
UNIPROT |
RPS19 mutations in patients with Diamond-Blackfan anemia.
|
18412286 |
2008 |
|
Diamond-Blackfan Anemia 1
|
0.690 |
GeneticVariation
|
disease |
UNIPROT |
Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome.
|
17517689 |
2007 |
|
Diamond-Blackfan Anemia 1
|
0.690 |
Biomarker
|
disease |
BEFREE |
FcgammaRIIa-transgenic mice developed collagen-induced arthritis (CIA) more rapidly than did archetypal CIA-sensitive DBA/1 (H-2q) mice, while nontransgenic C57BL/6 (H-2b) mice did not develop CIA when similarly immunized.
|
16200626 |
2005 |
|
Diamond-Blackfan Anemia 1
|
0.690 |
GeneticVariation
|
disease |
UNIPROT |
RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.
|
15384984 |
2004 |
|
Diamond-Blackfan Anemia 1
|
0.690 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.
|
15384984 |
2004 |
|
Diamond-Blackfan Anemia 1
|
0.690 |
GeneticVariation
|
disease |
UNIPROT |
Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene.
|
12750732 |
2003 |
|
Diamond-Blackfan Anemia 1
|
0.690 |
GeneticVariation
|
disease |
UNIPROT |
Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology.
|
12586610 |
2003 |
|
Diamond-Blackfan Anemia 1
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
The role of mutations in RPS19 in erythropoiesis or developmental defects in DBA patients is not obvious, and the increased frequency of osteogenic sarcomas suggests that at least that subset of patients may have a mutant tumor suppressor gene (such as p53, the mutant gene in Li-Fraumeni syndrome) [68].
|
12430621 |
2002 |
|
Diamond-Blackfan Anemia 1
|
0.690 |
GeneticVariation
|
disease |
UNIPROT |
Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population.
|
11112378 |
2000 |
|
Diamond-Blackfan Anemia 1
|
0.690 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.
|
9988267 |
1999 |
|
Diamond-Blackfan Anemia 1
|
0.690 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression.
|
10590074 |
1999 |
|
Diamond-Blackfan Anemia 1
|
0.690 |
GeneticVariation
|
disease |
UNIPROT |
The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.
|
9988267 |
1999 |
|
Diamond-Blackfan Anemia 1
|
0.690 |
Biomarker
|
disease |
BEFREE |
They provide a further example of dominant inheritance of Diamond-Blackfan anemia/Aase syndrome and suggest that thumb and radial abnormalities are a component of this syndrome.
|
1746615 |
1991 |
|
Diamond-Blackfan Anemia 1
|
0.690 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
They provide a further example of dominant inheritance of Diamond-Blackfan anemia/Aase syndrome and suggest that thumb and radial abnormalities are a component of this syndrome.
|
1746615 |
1991 |
|
Diamond-Blackfan Anemia 1
|
0.690 |
Biomarker
|
disease |
BEFREE |
Syndrome) the Aase Syndrome and Diamond-Blackfan Anemia.
|
4017281 |
1985 |
|
Diamond-Blackfan Anemia 1
|
0.690 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Diamond-Blackfan Anemia 1
|
0.690 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Diamond-Blackfan Anemia 1
|
0.690 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Diamond-Blackfan Anemia 1
|
0.690 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|