|
Diamond-Blackfan Anemia 10
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
These findings expand the mutation diversity of RPS26 and demonstrate the clinical presentations of the Chinese DBA10 patient.
|
31277601 |
2019 |
|
Diamond-Blackfan Anemia 10
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation.
|
25946618 |
2015 |
|
Diamond-Blackfan Anemia 10
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes.
|
26136524 |
2015 |
|
Diamond-Blackfan Anemia 10
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.
|
24942156 |
2014 |
|
Diamond-Blackfan Anemia 10
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.
|
24942156 |
2014 |
|
Diamond-Blackfan Anemia 10
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.
|
23812780 |
2013 |
|
Diamond-Blackfan Anemia 10
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.
|
20116044 |
2010 |
|
Diamond-Blackfan Anemia 10
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.
|
20116044 |
2010 |
|
Diamond-Blackfan Anemia 10
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.
|
20116044 |
2010 |
|
Diamond-Blackfan Anemia 10
|
0.710 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Diamond-Blackfan Anemia 10
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Cleft Palate
|
0.400 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.
|
28232668 |
2017 |
|
Cleft Palate
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.
|
20116044 |
2010 |
|
Cleft Palate
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|
|
Anemia, Diamond-Blackfan
|
0.360 |
GeneticVariation
|
disease |
BEFREE |
Here, a novel insert mutation c.96dupG in RPS26 was identified by whole-exome sequencing, which caused neonatal DBA in a Chinese boy.
|
31277601 |
2019 |
|
Anemia, Diamond-Blackfan
|
0.360 |
GeneticVariation
|
disease |
BEFREE |
Moreover, it points out that multiple associated ribosomal deficits might play a role in DBA-related phenotypes, considering the simultaneous deletion of three of them in the index case (<i>RPS26, PA2G4</i> and <i>RPL41)</i>, and it confirms the association among <i>SLC39A5</i> functional disruption and severe myopia.
|
30524470 |
2018 |
|
Anemia, Diamond-Blackfan
|
0.360 |
Biomarker
|
disease |
BEFREE |
Moreover, the simultaneous gain-of-function and loss-of-function phenotypes from Rps26-deficient ribosomes can explain the pathogenesis of DBA.
|
28759050 |
2017 |
|
Anemia, Diamond-Blackfan
|
0.360 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Germline Genetic Predisposition to Hematologic Malignancy.
|
28297620 |
2017 |
|
Anemia, Diamond-Blackfan
|
0.360 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genomic DNA from 57 DBA patients and their first-degree relatives was sequenced for mutations in RPS19, RPS10, RPS24, RPS26, RPS7, RPS17, RPL5, RPL11, RPL35a, and GATA1.
|
25946618 |
2015 |
|
Anemia, Diamond-Blackfan
|
0.360 |
Biomarker
|
disease |
BEFREE |
RPS26 is a recently identified Diamond-Blackfan Anemia-related ribosomal protein and its role in p53 activation has not been previously explored.
|
23728348 |
2014 |
|
Anemia, Diamond-Blackfan
|
0.360 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
In addition, we detected five deletions in RP genes in which mutations have been previously shown to cause DBA: one each in RPS19, RPS24, and RPS26, and two in RPS17.
|
23812780 |
2013 |
|
Anemia, Diamond-Blackfan
|
0.360 |
GeneticVariation
|
disease |
BEFREE |
Recent advances in identifying the genetic abnormalities underlying DBA have demonstrated involvement of genes encoding both large (RPL) and small (RPS) ribosomal subunit proteins, including mutations of RPL5, RPL11, RPL35A, RPS7, RPS10, RPS17, RPS19, RPS24, and RPS26 in 50% to 60% of affected patients.
|
21435509 |
2011 |
|
Anemia, Diamond-Blackfan
|
0.360 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
This accumulation is consistent with the phenotype observed in HeLa cells after knockdown of RPS10 or RPS26 expression with siRNAs, which indicates that mutations in the RPS10 and RPS26 genes in DBA patients affect the function of the proteins in rRNA processing.
|
20116044 |
2010 |
|
Anemia, Diamond-Blackfan
|
0.360 |
GeneticVariation
|
disease |
BEFREE |
This accumulation is consistent with the phenotype observed in HeLa cells after knockdown of RPS10 or RPS26 expression with siRNAs, which indicates that mutations in the RPS10 and RPS26 genes in DBA patients affect the function of the proteins in rRNA processing.
|
20116044 |
2010 |
|
Malignant neoplasm of stomach
|
0.300 |
Biomarker
|
disease |
CTD_human |
A gene expression signature of acquired chemoresistance to cisplatin and fluorouracil combination chemotherapy in gastric cancer patients.
|
21364753 |
2011 |