Blackfan Anemia mutation database
Blackfan Anemia mutation database.
Description
More detailed information about this field from each metasource.
Blackfan Anemia mutation database.
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:32:35.125786
Webpage:
http://www.dbagenes.unito.itWebpage
More detailed information about this field from each metasource.
http://www.dbagenes.unito.it
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:32:35.125786
Publications:
Publications
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The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update
PMID: 20960466
metasource: bio.tools
version: extracted_at: 2022-11-04T11:32:35.125786
Publications
More detailed information about this field from each metasource.
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update
PMID: 20960466
metasource: bio.tools
version: extracted_at: 2022-11-04T11:32:35.125786
-
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update
PubMed citations: 106.
106 articles citing: The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update
The chaperone Tsr2 regulates Rps26 release and reincorporation from mature ribosomes to enable a reversible, ribosome-mediated response to stress. PMID:35213229
Adult-Onset Diamond-Blackfan Anemia with RPL11 Gene Variation Case Report. PMID:35038319
Ribosome heterogeneity in Drosophila melanogaster gonads through paralog-switching. PMID:34283226
The roles of ribosomal proteins in nasopharyngeal cancer: culprits, sentinels or both. PMID:34193301
Pathogenic germline IKZF1 variant alters hematopoietic gene expression profiles. PMID:34162668
Computational Studies of the Structural Basis of Human RPS19 Mutations Associated With Diamond-Blackfan Anemia. PMID:34108988
Single-cell analysis of erythropoiesis in Rpl11 haploinsufficient mice reveals insight into the pathogenesis of Diamond-Blackfan anemia. PMID:33631277
Successful gene therapy of Diamond-Blackfan anemia in a mouse model and human CD34+ cord blood hematopoietic stem cells using a clinically applicable lentiviral vector. PMID:33440921
How Altered Ribosome Production Can Cause or Contribute to Human Disease: The Spectrum of Ribosomopathies. PMID:33076379
Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia. PMID:32916022
Ribosomal proteins: mutant phenotypes by the numbers and associated gene expression changes. PMID:32810425
Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia. PMID:32790018
Nonsense Suppression Therapy: New Hypothesis for the Treatment of Inherited Bone Marrow Failure Syndromes. PMID:32630050
Role of the 40S beak ribosomal protein eS12 in ribosome biogenesis and function in Saccharomyces cerevisiae. PMID:32408794
Ribosome heterogeneity in stem cells and development. PMID:32330234
Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in Patients With Osteosarcoma. PMID:32191290
Cancer-associated mutations in the ribosomal protein L5 gene dysregulate the HDM2/p53-mediated ribosome biogenesis checkpoint. PMID:32108164
Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism. PMID:31799629
GATA1 mutations in red cell disorders. PMID:31652397
Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL5. PMID:31645974
Zebrafish Models of Diamond-Blackfan Anemia: A Tool for Understanding the Disease Pathogenesis and Drug Discovery. PMID:31600948
Uncovering the assembly pathway of human ribosomes and its emerging links to disease. PMID:31268599
Human 5' UTR design and variant effect prediction from a massively parallel translation assay. PMID:31267113
Novel variants in Iranian individuals suspected to have inherited red blood cell disorders, including bone marrow failure syndromes. PMID:31097629
Guide snoRNAs: Drivers or Passengers in Human Disease? PMID:30577491
A Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil Deformity. PMID:30524470
How I manage children with Diamond-Blackfan anaemia. PMID:30515771
The Genetic Landscape of Diamond-Blackfan Anemia. PMID:30503522
Ribosome assembly coming into focus. PMID:30467428
Single-Cell Analysis Identifies Thymic Maturation Delay in Growth-Restricted Neonatal Mice. PMID:30443254
Emerging Therapeutic Approaches for Diamond Blackfan Anemia. PMID:30411682
RPSA, a candidate gene for isolated congenital asplenia, is required for pre-rRNA processing and spleen formation in Xenopus. PMID:30337486
An update on the pathogenesis and diagnosis of Diamond-Blackfan anemia. PMID:30228860
Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons. PMID:30072435
Identification of differentially expressed genes and pathways in mice exposed to mixed field neutron/photon radiation. PMID:29954325
A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia. PMID:29766597
Downregulation of ribosome biogenesis during early forebrain development. PMID:29745900
Identification of novel drug targets for diamond-blackfan anemia based on RPS19 gene mutation using protein-protein interaction network. PMID:29745857
Heterogeneity and specialized functions of translation machinery: from genes to organisms. PMID:29725087
Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia. PMID:29599205
Perspective on Diamond-Blackfan anemia: lessons from a rare congenital bone marrow failure syndrome. PMID:29182601
Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy. PMID:28931864
The uS8, uS4, eS31, and uL14 Ribosomal Protein Genes Are Dysregulated in Nasopharyngeal Carcinoma Cell Lines. PMID:28791303
Rps26 directs mRNA-specific translation by recognition of Kozak sequence elements. PMID:28759050
GRWD1, a new player among oncogenesis-related ribosomal/nucleolar proteins. PMID:28722511
Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium. PMID:28650483
Heterogeneous Ribosomes Preferentially Translate Distinct Subpools of mRNAs Genome-wide. PMID:28625553
Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations. PMID:28376382
Germline and somatic genetics of osteosarcoma - connecting aetiology, biology and therapy. PMID:28338660
A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism. PMID:28257692
La Deletion from Mouse Brain Alters Pre-tRNA Metabolism and Accumulation of Pre-5.8S rRNA, with Neuron Death and Reactive Astrocytosis. PMID:28223366
[Clinical features and pathogenic gene detection of Diamond-Blackfan anemia]. PMID:28202115
Biological Databases for Hematology Research. PMID:27965103
The Evolution of the Ribosomal Protein-MDM2-p53 Pathway. PMID:27908926
Genomic analysis reveals selection in Chinese native black pig. PMID:27808243
Expression of ribosomopathy genes during Xenopus tropicalis embryogenesis. PMID:27784267
Advances in understanding erythropoiesis: evolving perspectives. PMID:26846448
Neonatal manifestations of inherited bone marrow failure syndromes. PMID:26724991
GATA1 and PU.1 Bind to Ribosomal Protein Genes in Erythroid Cells: Implications for Ribosomopathies. PMID:26447946
Dysregulation of the Transforming Growth Factor β Pathway in Induced Pluripotent Stem Cells Generated from Patients with Diamond Blackfan Anemia. PMID:26258650
Ribosomal Protein Mutations Result in Constitutive p53 Protein Degradation through Impairment of the AKT Pathway. PMID:26132763
Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation. PMID:25946618
The role of glucocorticoid receptor (GR) polymorphisms in human erythropoiesis. PMID:25755906
Ribosomopathies: mechanisms of disease. PMID:25512719
Bmi1 promotes erythroid development through regulating ribosome biogenesis. PMID:25385494
Current insights into inherited bone marrow failure syndromes. PMID:25210520
Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis. PMID:25042156
Inborn errors of purine metabolism: clinical update and therapies. PMID:24972650
Ribosomal protein mutations induce autophagy through S6 kinase inhibition of the insulin pathway. PMID:24875531
Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan Anemia. PMID:24835311
Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families. PMID:24829207
The role of the DNA damage response in zebrafish and cellular models of Diamond Blackfan anemia. PMID:24812435
Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia. PMID:24735966
Hepcidin levels in Diamond-Blackfan anemia reflect erythropoietic activity and transfusion dependency. PMID:24727814
Gene conversion in human genetic disease. PMID:24710102
Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia. PMID:24675553
Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype. PMID:24453067
RPL39L is an example of a recently evolved ribosomal protein paralog that shows highly specific tissue expression patterns and is upregulated in ESCs and HCC tumors. PMID:24452241
Assessment of hematopoietic failure due to Rpl11 deficiency in a zebrafish model of Diamond-Blackfan anemia by deep sequencing. PMID:24341334
VarRanker: rapid prioritization of sequence variations associated with human disease. PMID:24268183
Genomic characterization of the inherited bone marrow failure syndromes. PMID:24246701
Using induced human pluripotent stem cells to study Diamond-Blackfan anemia: an outlook on the clinical possibilities. PMID:24219546
Regulation of the HDM2-p53 pathway by ribosomal protein L6 in response to ribosomal stress. PMID:24174547
Applications of high-throughput DNA sequencing to benign hematology. PMID:24021670
Genetic predispositions to childhood leukemia. PMID:23926459
Ribosomal and hematopoietic defects in induced pluripotent stem cells derived from Diamond Blackfan anemia patients. PMID:23744582
Erythropoiesis in the absence of adult hemoglobin. PMID:23530053
Gradual processing of the ITS1 from the nucleolus to the cytoplasm during synthesis of the human 18S rRNA. PMID:23482395
Clinical utility gene card for: Diamond-Blackfan anemia--update 2013. PMID:23463023
Genetics of ribosomal proteins: "curiouser and curiouser". PMID:23382707
Inherited bone marrow failure syndromes in 2012. PMID:23271412
Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia. PMID:23252420
Important genes in the pathogenesis of 5q- syndrome and their connection with ribosomal stress and the innate immune system pathway. PMID:23213547
The spectrum of non-classical Diamond-Blackfan anemia: a case of late beginning transfusion dependency associated to a new RPL5 mutation. PMID:22803003
L-Leucine improves the anemia and developmental defects associated with Diamond-Blackfan anemia and del(5q) MDS by activating the mTOR pathway. PMID:22734070
Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. PMID:22706301
High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay. PMID:22689679
Progress towards mechanism-based treatment for Diamond-Blackfan anemia. PMID:22619618
Specialized ribosomes: a new frontier in gene regulation and organismal biology. PMID:22617470
Ribosome deficiency protects against ER stress in Saccharomyces cerevisiae. PMID:22377630
Recent insights into inherited bone marrow failure syndromes. PMID:22227778
Increased frequency of the glucocorticoid receptor A3669G (rs6198) polymorphism in patients with Diamond-Blackfan anemia. PMID:21757629
Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome. PMID:21536732
The central core region of yeast ribosomal protein L11 is important for subunit joining and translational fidelity. PMID:21519857
5'UTR variants of ribosomal protein S19 transcript determine translational efficiency: implications for Diamond-Blackfan anemia and tissue variability. PMID:21412415
Clinical utility gene card for: Diamond Blackfan anemia. PMID:21248735
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