Home
Random
Nearby
Log in
Settings
Donate
About Wikidata
Disclaimers
Search
(Q34431422)
Watch
English
Marrow failure: a window into ribosome biology
scientific article
In more languages
edit
Statements
instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMCID
4215310
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25237201%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
review article
1 reference
stated in
Europe PubMed Central
title
Marrow failure: a window into ribosome biology
(English)
1 reference
stated in
Europe PubMed Central
PMCID
4215310
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25237201%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
author
Akiko Shimamura
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMCID
4215310
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25237201%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
author name string
Davide Ruggero
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMCID
4215310
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25237201%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
language of work or name
English
0 references
publication date
18 September 2014
1 reference
stated in
Europe PubMed Central
PMCID
4215310
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25237201%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
published in
Blood
1 reference
stated in
Europe PubMed Central
PMCID
4215310
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25237201%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
volume
124
1 reference
stated in
Europe PubMed Central
PMCID
4215310
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25237201%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
issue
18
1 reference
stated in
Europe PubMed Central
PMCID
4215310
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25237201%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
page(s)
2784-2792
1 reference
stated in
Europe PubMed Central
PMCID
4215310
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25237201%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
cites work
p53-Independent cell cycle and erythroid differentiation defects in murine embryonic stem cells haploinsufficient for Diamond Blackfan anemia-proteins: RPS19 versus RPL5.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Loss of tumor suppressor RPL5/RPL11 does not induce cell cycle arrest but impedes proliferation due to reduced ribosome content and translation capacity.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q- syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Guanine nucleotide exchange in the ribosomal GTPase EFL1 is modulated by the protein mutated in the Shwachman-Diamond syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
5S ribosomal RNA is an essential component of a nascent ribosomal precursor complex that regulates the Hdm2-p53 checkpoint
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Mitochondrial function is impaired in yeast and human cellular models of Shwachman Diamond syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Outcomes of allogeneic hematopoietic cell transplantation in patients with dyskeratosis congenita
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Ribosomal and hematopoietic defects in induced pluripotent stem cells derived from Diamond Blackfan anemia patients.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
H/ACA small RNA dysfunctions in disease reveal key roles for noncoding RNA modifications in hematopoietic stem cell differentiation.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Clinical utility gene card for: Diamond-Blackfan anemia--update 2013.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Control of hematopoietic stem cell emergence by antagonistic functions of ribosomal protein paralogs
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Exome sequencing identifies mutation in CNOT3 and ribosomal genes RPL5 and RPL10 in T-cell acute lymphoblastic leukemia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Mutual protection of ribosomal proteins L5 and L11 from degradation is essential for p53 activation upon ribosomal biogenesis stress
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Impaired ribosomal subunit association in Shwachman-Diamond syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Mesenchymal stem cells from Shwachman-Diamond syndrome patients display normal functions and do not contribute to hematological defects.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Activation of the mTOR pathway by the amino acid (L)-leucine in the 5q- syndrome and other ribosomopathies
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Impaired growth, hematopoietic colony formation, and ribosome maturation in human cells depleted of Shwachman-Diamond syndrome protein SBDS.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Revisiting the nucleolus: from marker to dynamic integrator of cancer signaling
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
L-Leucine improves the anemia and developmental defects associated with Diamond-Blackfan anemia and del(5q) MDS by activating the mTOR pathway.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Bone marrow failure in Fanconi anemia is triggered by an exacerbated p53/p21 DNA damage response that impairs hematopoietic stem and progenitor cells
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Specialized ribosomes: a new frontier in gene regulation and organismal biology
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Suprainduction of p53 by disruption of 40S and 60S ribosome biogenesis leads to the activation of a novel G2/M checkpoint.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Leucyl-tRNA synthetase is an intracellular leucine sensor for the mTORC1-signaling pathway
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Ribosomal protein S14 unties the MDM2-p53 loop upon ribosomal stress
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
rRNA pseudouridylation defects affect ribosomal ligand binding and translational fidelity from yeast to human cells.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
The ribosome-related protein, SBDS, is critical for normal erythropoiesis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Defective ribosome assembly in Shwachman-Diamond syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Neutrophil functions in patients with inherited bone marrow failure syndromes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Ribosome-mediated specificity in Hox mRNA translation and vertebrate tissue patterning
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Dexamethasone and lenalidomide have distinct functional effects on erythropoiesis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Animal models of Diamond Blackfan anemia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Modeling Diamond Blackfan anemia in the zebrafish
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Sbds is required for Rac2-mediated monocyte migration and signaling downstream of RANK during osteoclastogenesis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
New insights into 5q- syndrome as a ribosomopathy.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
SBDS-deficiency results in deregulation of reactive oxygen species leading to increased cell death and decreased cell growth
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
An ARF-independent c-MYC-activated tumor suppression pathway mediated by ribosomal protein-Mdm2 Interaction
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Advances in the 5q- syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Androgens stimulate telomerase expression, activity and phosphorylation in ovarian adenocarcinoma cells.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Defining the pathway of cytoplasmic maturation of the 60S ribosomal subunit.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
How I treat Diamond-Blackfan anemia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
A transgenic mouse model demonstrates a dominant negative effect of a point mutation in the RPS19 gene associated with Diamond-Blackfan anemia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Deregulation of oncogene-induced senescence and p53 translational control in X-linked dyskeratosis congenita
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Pathophysiology and management of inherited bone marrow failure syndromes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Mechanism of eIF6-mediated Inhibition of Ribosomal Subunit Joining
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Bone progenitor dysfunction induces myelodysplasia and secondary leukaemia.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Box H/ACA small ribonucleoproteins
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
A p53-dependent mechanism underlies macrocytic anemia in a mouse model of human 5q- syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Signaling to p53: ribosomal proteins find their way.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
SBDS expression and localization at the mitotic spindle in human myeloid progenitors
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Sex hormones, acting on the TERT gene, increase telomerase activity in human primary hematopoietic cells
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
How common are extraribosomal functions of ribosomal proteins?
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Absence of nucleolar disruption after impairment of 40S ribosome biogenesis reveals an rpL11-translation-dependent mechanism of p53 induction
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Cancer in dyskeratosis congenita
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Shwachman-Diamond syndrome neutrophils have altered chemoattractant-induced F-actin polymerization and polarization characteristics
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
The role of human ribosomal proteins in the maturation of rRNA and ribosome production
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
A pathogenic dyskerin mutation impairs proliferation and activates a DNA damage response independent of telomere length in mice
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Bone marrow cell cycle markers in inherited bone marrow failure syndromes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Diamond Blackfan anemia: a disorder of red blood cell development
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
SBDS-deficient cells undergo accelerated apoptosis through the Fas-pathway.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Dyskeratosis congenita: a genetic disorder of many faces
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
The Shwachman-Bodian-Diamond syndrome associated protein interacts with HsNip7 and its down-regulation affects gene expression at the transcriptional and translational levels
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Lentiviral-mediated RNAi inhibition of Sbds in murine hematopoietic progenitors impairs their hematopoietic potential
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Successful treatment of a Diamond-Blackfan anemia patient with amino acid leucine
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Ribosomal protein L33 is required for ribosome biogenesis, subunit joining, and repression of GCN4 translation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Leucine and protein synthesis: mTOR and beyond
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Noncoding RNAs of the H/ACA family
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Non-coding RNAs: lessons from the small nuclear and small nucleolar RNAs
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Impaired ribosome biogenesis in Diamond-Blackfan anemia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Loss of the mouse ortholog of the shwachman-diamond syndrome gene (Sbds) results in early embryonic lethality
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Specific Role for Yeast Homologs of the Diamond Blackfan Anemia-associated Rps19 Protein in Ribosome Synthesis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
The many facets of H/ACA ribonucleoproteins
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
An RNA interference model of RPS19 deficiency in Diamond-Blackfan anemia recapitulates defective hematopoiesis and rescue by dexamethasone: identification of dexamethasone-responsive genes by microarray.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Infections in patients with Shwachman-Diamond syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
The chemotaxis defect of Shwachman-Diamond Syndrome leukocytes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Knockdown of zebrafish Fancd2 causes developmental abnormalities via p53-dependent apoptosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Release of eIF6 (p27BBP) from the 60S subunit allows 80S ribosome assembly
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Mutations in SBDS are associated with Shwachman-Diamond syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
rRNA modifications and ribosome function
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Making ribosomes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
The nucle(ol)ar Tif6p and Efl1p are required for a late cytoplasmic step of ribosome synthesis.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
The Saccharomyces cerevisiae TIF6 gene encoding translation initiation factor 6 is required for 60S ribosomal subunit biogenesis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Dyskeratosis congenita in all its forms
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
A telomerase component is defective in the human disease dyskeratosis congenita
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Point mutations in yeast CBF5 can abolish in vivo pseudouridylation of rRNA
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
The box H + ACA snoRNAs carry Cbf5p, the putative rRNA pseudouridine synthase
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Small nucleolar RNAs direct site-specific synthesis of pseudouridine in ribosomal RNA
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Elevated erythrocyte adenosine deaminase activity in congenital hypoplastic anemia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Unusual resistance of peptidyl transferase to protein extraction procedures
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Erythroid Precursors in Congenital Hypoplastic (Diamond-Blackfan) Anemia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
6 July 2018
Young-age-onset pancreatoduodenal carcinoma in Shwachman-Diamond syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
27 October 2018
Translation of branched-chain aminotransferase-1 transcripts is impaired in cells haploinsufficient for ribosomal protein genes.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
27 October 2018
First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond–Blackfan anemia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
27 October 2018
Pluripotent stem cell models of Shwachman-Diamond syndrome reveal a common mechanism for pancreatic and hematopoietic dysfunction
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
27 October 2018
Dietary L-leucine improves the anemia in a mouse model for Diamond-Blackfan anemia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
27 October 2018
Telomere elongation and clinical response to androgen treatment in a patient with aplastic anemia and a heterozygous hTERT gene mutation.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
27 October 2018
Breast cancer in a case of Shwachman Diamond syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
27 October 2018
Translational efficiency in patients with Diamond-Blackfan anemia.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
27 October 2018
Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
27 October 2018
Immune function in patients with Shwachman-Diamond syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4215310
retrieved
27 October 2018
Shwachman-Diamond syndrome: An inherited preleukemic bone marrow failure disorder with aberrant hematopoietic progenitors and faulty marrow microenvironment
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/25237201
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Direct interaction between EFL1 and SBDS is mediated by an intrinsically disordered insertion domain
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/25237201
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Molecular characteristics of a pancreatic adenocarcinoma associated with Shwachman-Diamond syndrome
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/25237201
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Dermatofibrosarcoma protuberans arising in the context of Shwachman-Diamond syndrome
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/25237201
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1182/BLOOD-2014-04-526301
1 reference
stated in
Europe PubMed Central
PMCID
4215310
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25237201%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
PMCID
4215310
1 reference
stated in
Europe PubMed Central
PMCID
4215310
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25237201%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
PubMed ID
25237201
1 reference
stated in
Europe PubMed Central
PMCID
4215310
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25237201%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
ResearchGate publication ID
265863735
0 references
Sitelinks
Wikipedia
(0 entries)
edit
Wikibooks
(0 entries)
edit
Wikinews
(0 entries)
edit
Wikiquote
(0 entries)
edit
Wikisource
(0 entries)
edit
Wikiversity
(0 entries)
edit
Wikivoyage
(0 entries)
edit
Wiktionary
(0 entries)
edit
Multilingual sites
(0 entries)
edit
