Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome. (Q41596331)

4 October 2017

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6 November 2020

Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6710477&resulttype=core&format=json

12 May 2020

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6 November 2020

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6 November 2020

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6 November 2020

exocrine pancreatic insufficiency

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6 November 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6710477&resulttype=core&format=json

12 May 2020

Alan J Warren

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28942353

4 October 2017

publication date

6 September 2017

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28942353

Advances in Biological Regulation

4 October 2017

1 January 2018

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6 November 2020

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inferred from page(s)

published in

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12 May 2020

volume

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6710477&resulttype=core&format=json

12 May 2020

page(s)

109-127

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6710477&resulttype=core&format=json

Creative Commons Attribution 4.0 International

12 May 2020

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Purification and characterization of a ribosome dissociation factor (eukaryotic initiation factor 6) from wheat germ

6 November 2020

copyrighted

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cites work

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12 December 2020

Identification of a wheat germ ribosome dissociation factor distinct from initiation factor eIF-3

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12 December 2020

Ribosomal precursor particles from yeast

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12 December 2020

Drosophila homolog of the human S6 ribosomal protein is required for tumor suppression in the hematopoietic system

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12 December 2020

U3, U8 and U13 comprise a new class of mammalian snRNPs localized in the cell nucleolus

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12 December 2020

Riddle: what do aplastic anemia, paroxysmal nocturnal hemoglobinuria (PNH) and "hypoplastic" leukemia have in common?

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12 December 2020

Eukaryotic ribosomal subunit anti-association activity of calf liver is contained in a single polypeptide chain protein of Mr = 25,500 (eukaryotic initiation factor 6)

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12 December 2020

Sequence and structural elements critical for U8 snRNP function in Xenopus oocytes are evolutionarily conserved

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12 December 2020

The yeast NOP4 gene product is an essential nucleolar protein required for pre-rRNA processing and accumulation of 60S ribosomal subunits.

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12 December 2020

Extensive brain calcifications, leukodystrophy, and formation of parenchymal cysts: a new progressive disorder due to diffuse cerebral microangiopathy

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12 December 2020

NMR structure of the J-domain and the Gly/Phe-rich region of the Escherichia coli DnaJ chaperone

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12 December 2020

The sequence of the 5' end of the U8 small nucleolar RNA is critical for 5.8S and 28S rRNA maturation

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12 December 2020

The box H + ACA snoRNAs carry Cbf5p, the putative rRNA pseudouridine synthase

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12 December 2020

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

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12 December 2020

Role of the J-domain in the cooperation of Hsp40 with Hsp70.

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12 December 2020

Zuotin, a ribosome-associated DnaJ molecular chaperone

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12 December 2020

The Saccharomyces cerevisiae homologue of mammalian translation initiation factor 6 does not function as a translation initiation factor

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12 December 2020

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

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12 December 2020

The beta4 integrin interactor p27(BBP/eIF6) is an essential nuclear matrix protein involved in 60S ribosomal subunit assembly

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12 December 2020

Nmd3p is a Crm1p-dependent adapter protein for nuclear export of the large ribosomal subunit

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12 December 2020

Crystal structures of ribosome anti-association factor IF6

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12 December 2020

Prediction of the archaeal exosome and its connections with the proteasome and the translation and transcription machineries by a comparative-genomic approach

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12 December 2020

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia

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12 December 2020

RAC, a stable ribosome-associated complex in yeast formed by the DnaK-DnaJ homologs Ssz1p and zuotin.

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12 December 2020

Nuclear export of 60s ribosomal subunits depends on Xpo1p and requires a nuclear export sequence-containing factor, Nmd3p, that associates with the large subunit protein Rpl10p

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12 December 2020

The U8 snoRNA gene family: identification and characterization of distinct, functional U8 genes in Xenopus

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12 December 2020

Ria1p (Ynl163c), a protein similar to elongation factors 2, is involved in the biogenesis of the 60S subunit of the ribosome in Saccharomyces cerevisiae

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12 December 2020

The nucle(ol)ar Tif6p and Efl1p are required for a late cytoplasmic step of ribosome synthesis.

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12 December 2020

A large nucleolar U3 ribonucleoprotein required for 18S ribosomal RNA biogenesis

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12 December 2020

Large-scale prediction of Saccharomyces cerevisiae gene function using overlapping transcriptional clusters

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12 December 2020

90S pre-ribosomes include the 35S pre-rRNA, the U3 snoRNP, and 40S subunit processing factors but predominantly lack 60S synthesis factors

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12 December 2020

A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis

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12 December 2020

Lsm Proteins are required for normal processing and stability of ribosomal RNAs

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12 December 2020

Mutations in SBDS are associated with Shwachman-Diamond syndrome

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12 December 2020

THE SYNDROME OF PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION.

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12 December 2020

Lipomatous congenital hypoplasia of the exocrine pancreas in children. (2 cases and review of the literature)

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12 December 2020

Release of eIF6 (p27BBP) from the 60S subunit allows 80S ribosome assembly

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12 December 2020

Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS.

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12 December 2020

Ribosomal protein L24 defect in belly spot and tail (Bst), a mouse Minute

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12 December 2020

RNA polymerase I transcription and pre-rRNA processing are linked by specific SSU processome components

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12 December 2020

Release of the export adapter, Nmd3p, from the 60S ribosomal subunit requires Rpl10p and the cytoplasmic GTPase Lsg1p

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12 December 2020

Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome

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12 December 2020

The Shwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism

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12 December 2020

Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship

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12 December 2020

Identification of novel mutations in patients with Shwachman-Diamond syndrome

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12 December 2020

Defining the order in which Nmd3p and Rpl10p load onto nascent 60S ribosomal subunits

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12 December 2020

The Shwachman-Diamond SBDS protein localizes to the nucleolus

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12 December 2020

The Hsp70 Ssz1 modulates the function of the ribosome-associated J-protein Zuo1.

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12 December 2020

Identification and analysis of ribonuclease P and MRP RNA in a broad range of eukaryotes

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12 December 2020

Deletion of EFL1 results in heterogeneity of the 60 S GTPase-associated rRNA conformation.

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12 December 2020

The Shwachman-Bodian-Diamond syndrome gene encodes an RNA-binding protein that localizes to the pseudopod of Dictyostelium amoebae during chemotaxis

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12 December 2020

Nuclear recycling of the pre-60S ribosomal subunit-associated factor Arx1 depends on Rei1 in Saccharomyces cerevisiae

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12 December 2020

A functional network involved in the recycling of nucleocytoplasmic pre-60S factors

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12 December 2020

Loss of the mouse ortholog of the shwachman-diamond syndrome gene (Sbds) results in early embryonic lethality

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12 December 2020

Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism

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12 December 2020

Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene.

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12 December 2020

Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia

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12 December 2020

The specialized cytosolic J-protein, Jjj1, functions in 60S ribosomal subunit biogenesis

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12 December 2020

The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast

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12 December 2020

Biogenesis and intranuclear trafficking of human box C/D and H/ACA RNPs

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12 December 2020

Cytoplasmic recycling of 60S preribosomal factors depends on the AAA protein Drg1.

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12 December 2020

Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia

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12 December 2020

The Hsp40 chaperone Jjj1 is required for the nucleo-cytoplasmic recycling of preribosomal factors in Saccharomyces cerevisiae

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12 December 2020

Recruitment of factors linking transcription and processing of pre-rRNA to NOR chromatin is UBF-dependent and occurs independent of transcription in human cells

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12 December 2020

The crystal structure of Ebp1 reveals a methionine aminopeptidase fold as binding platform for multiple interactions

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12 December 2020

Arx1 functions as an unorthodox nuclear export receptor for the 60S preribosomal subunit

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12 December 2020

Gene expression profiling of CD34+cells in patients with the 5q− syndrome

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12 December 2020

Protein kinase C deficiency increases fatty acid oxidation and reduces fat storage

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12 December 2020

Structural Basis of J Cochaperone Binding and Regulation of Hsp70

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12 December 2020

Identification of RPS14 as a 5q- syndrome gene by RNA interference screen

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12 December 2020

The Saccharomyces cerevisiae 60 S ribosome biogenesis factor Tif6p is regulated by Hrr25p-mediated phosphorylation

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12 December 2020

SBDS-deficient cells undergo accelerated apoptosis through the Fas-pathway.

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12 December 2020

Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome

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12 December 2020

Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis

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12 December 2020

Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia

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12 December 2020

Loss of p53 synthesis in zebrafish tumors with ribosomal protein gene mutations

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12 December 2020

Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects

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12 December 2020

Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients

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12 December 2020

The amino terminal domain from Mrt4 protein can functionally replace the RNA binding domain of the ribosomal P0 protein.

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12 December 2020

Conserved and variable domains of RNase MRP RNA.

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12 December 2020

Bone marrow cells from patients with Shwachman-Diamond syndrome abnormally express genes involved in ribosome biogenesis and RNA processing

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12 December 2020

Conformational flexibility and molecular interactions of an archaeal homologue of the Shwachman-Bodian-Diamond syndrome protein

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12 December 2020

Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome

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12 December 2020

Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses

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12 December 2020

Ribosome stalk assembly requires the dual-specificity phosphatase Yvh1 for the exchange of Mrt4 with P0

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12 December 2020

Yvh1 is required for a late maturation step in the 60S biogenesis pathway

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12 December 2020

The cytosolic J-protein, Jjj1, and Rei1 function in the removal of the pre-60 S subunit factor Arx1

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12 December 2020

A p53-dependent mechanism underlies macrocytic anemia in a mouse model of human 5q- syndrome

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12 December 2020

Interaction between Sdo1p and Btn1p in the Saccharomyces cerevisiae model for Batten disease

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12 December 2020

The ribosome assembly factor Nep1 responsible for Bowen-Conradi syndrome is a pseudouridine-N1-specific methyltransferase

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12 December 2020

Structure, dynamics, and RNA interaction analysis of the human SBDS protein

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12 December 2020

Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia

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12 December 2020

Mechanism of eIF6-mediated Inhibition of Ribosomal Subunit Joining

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12 December 2020

Defining the pathway of cytoplasmic maturation of the 60S ribosomal subunit.

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12 December 2020

The Bowen-Conradi syndrome protein Nep1 (Emg1) has a dual role in eukaryotic ribosome biogenesis, as an essential assembly factor and in the methylation of Ψ1191 in yeast 18S rRNA.

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12 December 2020

Dermatofibrosarcoma Protuberans Arising in the Context of Shwachman‐Diamond Syndrome

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12 December 2020

Sbds is required for Rac2-mediated monocyte migration and signaling downstream of RANK during osteoclastogenesis

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12 December 2020

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.

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12 December 2020

Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome

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12 December 2020

Defective ribosome assembly in Shwachman-Diamond syndrome

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12 December 2020

Crystal structure of the eukaryotic 60S ribosomal subunit in complex with initiation factor 6

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12 December 2020

The box C/D and H/ACA snoRNPs: key players in the modification, processing and the dynamic folding of ribosomal RNA.

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12 December 2020

Lymphoma in a case of Shwachman-Diamond syndrome: PET/CT findings

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12 December 2020

Breast cancer in a case of Shwachman Diamond syndrome.

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12 December 2020

Deletion of chromosome 20 in bone marrow of patients with Shwachman-Diamond syndrome, loss of the EIF6 gene and benign prognosis

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12 December 2020

Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome

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12 December 2020

Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry.

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12 December 2020

Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia

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12 December 2020

Atomic structures of the eukaryotic ribosome

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12 December 2020

Maturation of mammalian H/ACA box snoRNAs: PAPD5-dependent adenylation and PARN-dependent trimming

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12 December 2020

Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome

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12 December 2020

Genetic interactions of yeast NEP1 (EMG1), encoding an essential factor in ribosome biogenesis

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12 December 2020

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia

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12 December 2020

The Saccharomyces cerevisiae Hot1p regulated gene YHR087W (HGI1) has a role in translation upon high glucose concentration stress

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12 December 2020

Ribosomal biogenesis genes play an essential and p53-independent role in zebrafish pancreas development

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12 December 2020

Inactivation of ribosomal protein L22 promotes transformation by induction of the stemness factor, Lin28B.

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12 December 2020

Impaired ribosomal subunit association in Shwachman-Diamond syndrome

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12 December 2020

Cryo-EM structures of Arx1 and maturation factors Rei1 and Jjj1 bound to the 60S ribosomal subunit

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12 December 2020

Rlp24 activates the AAA-ATPase Drg1 to initiate cytoplasmic pre-60S maturation

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12 December 2020

Exome sequencing identifies mutation in CNOT3 and ribosomal genes RPL5 and RPL10 in T-cell acute lymphoblastic leukemia

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12 December 2020

Molecular characteristics of a pancreatic adenocarcinoma associated with Shwachman-Diamond syndrome

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12 December 2020

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia

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12 December 2020

BMS1 is mutated in aplasia cutis congenita

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12 December 2020

Mitochondrial function is impaired in yeast and human cellular models of Shwachman Diamond syndrome

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12 December 2020

Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia

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12 December 2020

p53-mediated biliary defects caused by knockdown of cirh1a, the zebrafish homolog of the gene responsible for North American Indian Childhood Cirrhosis

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12 December 2020

Poly(A)-specific ribonuclease mediates 3'-end trimming of Argonaute2-cleaved precursor microRNAs

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12 December 2020

Coupled GTPase and remodelling ATPase activities form a checkpoint for ribosome export

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12 December 2020

CNS lymphoma in a patient with Shwachman Diamond syndrome.

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12 December 2020

Different loss of material in recurrent chromosome 20 interstitial deletions in Shwachman-Diamond syndrome and in myeloid neoplasms

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12 December 2020

Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry

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12 December 2020

A new system for naming ribosomal proteins

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12 December 2020

Young-age-onset pancreatoduodenal carcinoma in Shwachman-Diamond syndrome.

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12 December 2020

Diamond Blackfan anemia: a model for the translational approach to understanding human disease

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12 December 2020

Haematopoietic stem cells require a highly regulated protein synthesis rate

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12 December 2020

Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families

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12 December 2020

Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency

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12 December 2020

Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28

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12 December 2020

The NBS1-Treacle complex controls ribosomal RNA transcription in response to DNA damage

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12 December 2020

A RanGTP-independent mechanism allows ribosomal protein nuclear import for ribosome assembly

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12 December 2020

A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans

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12 December 2020

Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia.

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12 December 2020

Treacher Collins syndrome TCOF1 protein cooperates with NBS1 in the DNA damage response.

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12 December 2020

Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening

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12 December 2020

Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita

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12 December 2020

Mutant U2AF1 Expression Alters Hematopoiesis and Pre-mRNA Splicing In Vivo

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12 December 2020

Disruption of the 5S RNP-Mdm2 interaction significantly improves the erythroid defect in a mouse model for Diamond-Blackfan anemia

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12 December 2020

In Vivo Senescence in the Sbds-Deficient Murine Pancreas: Cell-Type Specific Consequences of Translation Insufficiency

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12 December 2020

Destabilization of microRNAs in human cells by 3' deadenylation mediated by PARN and CUGBP1.

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12 December 2020

Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN).

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12 December 2020

Application of genome editing technologies to the study and treatment of hematological disease

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12 December 2020

Mechanism of eIF6 release from the nascent 60S ribosomal subunit.

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12 December 2020

Poly(A)-specific ribonuclease (PARN) mediates 3'-end maturation of the telomerase RNA component

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12 December 2020

The Ribosome Biogenesis Protein Nol9 Is Essential for Definitive Hematopoiesis and Pancreas Morphogenesis in Zebrafish

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12 December 2020

Human Telomerase RNA Processing and Quality Control.

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12 December 2020

A Polyadenylation-Dependent 3' End Maturation Pathway Is Required for the Synthesis of the Human Telomerase RNA.

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12 December 2020

Whole-exome sequencing in relapsing chronic lymphocytic leukemia: clinical impact of recurrent RPS15 mutations

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12 December 2020

Insertion of the Biogenesis Factor Rei1 Probes the Ribosomal Tunnel during 60S Maturation

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12 December 2020

Shwachman-Bodian-Diamond syndrome (SBDS) protein deficiency impairs translation re-initiation from C/EBPα and C/EBPβ mRNAs

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12 December 2020

Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up

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12 December 2020

Identification and Functional Analysis of the Pre-piRNA 3' Trimmer in Silkworms

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12 December 2020

The RNase PARN-1 Trims piRNA 3' Ends to Promote Transcriptome Surveillance in C. elegans

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12 December 2020

DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation

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12 December 2020

Architecture of the 90S Pre-ribosome: A Structural View on the Birth of the Eukaryotic Ribosome

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12 December 2020

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

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12 December 2020

Splicing factor gene mutations in the myelodysplastic syndromes: impact on disease phenotype and therapeutic applications

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12 December 2020

Mesenchymal Inflammation Drives Genotoxic Stress in Hematopoietic Stem Cells and Predicts Disease Evolution in Human Pre-leukemia.

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12 December 2020

Ribosome-stalk biogenesis is coupled with recruitment of nuclear-export factor to the nascent 60S subunit.

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12 December 2020

Leukaemogenic effects of Ptpn11 activating mutations in the stem cell microenvironment

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12 December 2020

Poly(A)-specific ribonuclease regulates the processing of small-subunit rRNAs in human cells

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12 December 2020

Architecture of the yeast small subunit processome.

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12 December 2020

Advances in the field of single-particle cryo-electron microscopy over the last decade

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12 December 2020

SBDS-Deficient Cells Have an Altered Homeostatic Equilibrium due to Translational Inefficiency Which Explains their Reduced Fitness and Provides a Logical Framework for Intervention.

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12 December 2020

Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.

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12 December 2020

Structural snapshot of cytoplasmic pre-60S ribosomal particles bound by Nmd3, Lsg1, Tif6 and Reh1.

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12 December 2020

Targeted CRISPR disruption reveals a role for RNase MRP RNA in human preribosomal RNA processing

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12 December 2020

Prognostic Mutations in Myelodysplastic Syndrome after Stem-Cell Transplantation

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12 December 2020

Nmd3 is a structural mimic of eIF5A, and activates the cpGTPase Lsg1 during 60S ribosome biogenesis

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12 December 2020

Slowed decay of mRNAs enhances platelet specific translation

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12 December 2020

A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism

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12 December 2020

Deletion of ribosomal protein genes is a common vulnerability in human cancer, especially in concert with TP53 mutations.

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12 December 2020

Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome

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12 December 2020

Poly(A)-specific ribonuclease is a nuclear ribosome biogenesis factor involved in human 18S rRNA maturation.

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12 December 2020

Correction: Molecular architecture of the 90S small subunit pre-ribosome

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12 December 2020

The T-cell leukemia related rpl10-R98S mutant traps the 60S export adapter Nmd3 in the ribosomal P site in yeast

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12 December 2020

PARN Modulates Y RNA Stability and Its 3'-End Formation

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12 December 2020

10.1016/J.JBIOR.2017.09.002

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6710477&resulttype=core&format=json

12 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6710477&resulttype=core&format=json

12 May 2020

28942353

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6710477&resulttype=core&format=json