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Untangling the phenotypic heterogeneity of Diamond Blackfan anemia.
scientific article
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scholarly article
1 reference
stated in
Europe PubMed Central
PMCID
3078697
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21435509%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 January 2020
review article
1 reference
stated in
Europe PubMed Central
title
Untangling the phenotypic heterogeneity of Diamond Blackfan anemia
(English)
1 reference
stated in
Europe PubMed Central
PMCID
3078697
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21435509%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 January 2020
main subject
heterogeneity
1 reference
based on heuristic
inferred from title
phenotypic heterogeneity
1 reference
based on heuristic
inferred from title
author
Jason E Farrar
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMCID
3078697
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21435509%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 January 2020
author name string
Niklas Dahl
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMCID
3078697
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21435509%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 January 2020
publication date
1 April 2011
1 reference
stated in
Europe PubMed Central
PMCID
3078697
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21435509%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 January 2020
published in
Seminars in Hematology
1 reference
stated in
Europe PubMed Central
PMCID
3078697
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21435509%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 January 2020
volume
48
1 reference
stated in
Europe PubMed Central
PMCID
3078697
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21435509%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 January 2020
issue
2
1 reference
stated in
Europe PubMed Central
PMCID
3078697
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21435509%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 January 2020
page(s)
124-135
1 reference
stated in
Europe PubMed Central
PMCID
3078697
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21435509%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 January 2020
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Ribosomal protein S19 binds to its own mRNA with reduced affinity in Diamond-Blackfan anemia
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Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia
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Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia.
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Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia
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Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients
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8 July 2018
Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects
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8 July 2018
Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia
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8 July 2018
Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder
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8 July 2018
Identification of RPS14 as a 5q- syndrome gene by RNA interference screen
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8 July 2018
Molecular basis of Diamond Blackfan anemia: structure and function analysis of RPS19
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8 July 2018
Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia
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8 July 2018
Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome
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8 July 2018
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8 July 2018
Impaired ribosome biogenesis in Diamond-Blackfan anemia
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8 July 2018
Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits
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Regulation of the MDM2-p53 pathway by ribosomal protein L11 involves a post-ubiquitination mechanism
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Improving clinical care and elucidating the pathophysiology of Diamond Blackfan anemia: an update from the Diamond Blackfan Anemia Registry
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8 July 2018
Specific Role for Yeast Homologs of the Diamond Blackfan Anemia-associated Rps19 Protein in Ribosome Synthesis
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8 July 2018
Ribosome synthesis meets the cell cycle
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8 July 2018
Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia
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8 July 2018
Inhibition of MDM2-mediated p53 ubiquitination and degradation by ribosomal protein L5
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8 July 2018
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8 July 2018
Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature
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8 July 2018
Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity
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8 July 2018
Familial Diamond-Blackfan anemia. Case reports and a review of the related literature
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8 July 2018
Ten novel Diamond–Blackfan anemia mutations and three polymorphisms within the rps19 gene
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8 July 2018
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
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8 July 2018
Yph1p, an ORC-interacting protein: potential links between cell proliferation control, DNA replication, and ribosome biogenesis.
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8 July 2018
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8 July 2018
The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond-Blackfan anemia
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8 July 2018
Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease
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8 July 2018
A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes
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8 July 2018
Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population
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8 July 2018
Synthesis of the translational apparatus is regulated at the translational level
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8 July 2018
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8 July 2018
A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome
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PubMed Central
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8 July 2018
Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia
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8 July 2018
Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression
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8 July 2018
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8 July 2018
The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia
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8 July 2018
Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity
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8 July 2018
Diamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation
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8 July 2018
Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb
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8 July 2018
Oligopyrimidine tract at the 5' end of mammalian ribosomal protein mRNAs is required for their translational control
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8 July 2018
Disorders of sex development and Diamond-Blackfan anemia: is there an association?
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26 October 2018
A novel initiation codon mutation in the ribosomal protein S17 gene (RPS17) in a patient with Diamond-Blackfan anemia.
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26 October 2018
Study of the effects of proteasome inhibitors on ribosomal protein S19 (RPS19) mutants, identified in patients with Diamond-Blackfan anemia
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PubMed Central
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26 October 2018
Cells depleted for RPS19, a protein associated with Diamond Blackfan Anemia, show defects in 18S ribosomal RNA synthesis and small ribosomal subunit production.
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PubMed Central
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26 October 2018
Ribosomal proteins Rpl10 and Rps6 are potent regulators of yeast replicative life span.
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26 October 2018
A four base pair insertion in exon 1 of the RPS19 gene is a common polymorphism in African-Americans
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26 October 2018
Diamond Blackfan anemia: A paradigm for a ribosome-based disease.
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26 October 2018
RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations
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PubMed Central
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26 October 2018
Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.
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26 October 2018
Genetic variants in the noncoding region ofRPS19gene in Diamond-Blackfan anemia: Potential implications for phenotypic heterogeneity
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26 October 2018
Ribosomal Protein S19 Gene Mutations in Patients with Diamond-Blackfan Anemia and Identification of Ribosomal Protein S19 Pseudogenes
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3078697
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9 December 2018
Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene
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https://pubmed.ncbi.nlm.nih.gov/21435509
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12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Sustained cyclosporine-induced erythropoietic response in identical male twins with diamond-blackfan anemia
1 reference
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PubMed
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https://pubmed.ncbi.nlm.nih.gov/21435509
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12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Multiplex ligation-dependent probe amplification enhances molecular diagnosis of Diamond-Blackfan anemia due to RPS19 deficiency
1 reference
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PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/21435509
retrieved
12 December 2020
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inferred from PubMed ID database lookup
Diamond-Blackfan anaemia in the Italian population
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PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/21435509
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
A microdeletion syndrome due to a 3-Mb deletion on 19q13.2--Diamond-Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardation
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stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/21435509
retrieved
12 December 2020
based on heuristic
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Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients. DBA group of Société d'Hématologie et d'Immunologie Pédiatrique (SHIP), Gesellshaft für Pädiatrische Onkologi
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/21435509
retrieved
12 December 2020
based on heuristic
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Identifiers
DOI
10.1053/J.SEMINHEMATOL.2011.02.003
1 reference
stated in
Europe PubMed Central
PMCID
3078697
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21435509%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 January 2020
PMCID
3078697
1 reference
stated in
Europe PubMed Central
PMCID
3078697
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21435509%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 January 2020
PubMed ID
21435509
1 reference
stated in
Europe PubMed Central
PMCID
3078697
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21435509%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 January 2020
ResearchGate publication ID
50849961
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