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Human diseases of the SSU processome
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instance of
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2 references
stated in
PubMed
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Europe PubMed Central
PMCID
4058823
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24240090%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 March 2020
title
Human diseases of the SSU processome
(English)
2 references
stated in
PubMed
stated in
Europe PubMed Central
PMCID
4058823
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24240090%20AND%20SRC:MED&resulttype=core&format=json
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1 March 2020
author
Samuel B Sondalle
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMCID
4058823
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24240090%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 March 2020
Susan Baserga
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object named as
Susan J Baserga
1 reference
stated in
Europe PubMed Central
PMCID
4058823
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24240090%20AND%20SRC:MED&resulttype=core&format=json
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1 March 2020
language of work or name
English
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publication date
12 November 2013
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Europe PubMed Central
PMCID
4058823
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24240090%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 March 2020
published in
Biochimica et Biophysica Acta
2 references
stated in
PubMed
stated in
Europe PubMed Central
PMCID
4058823
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24240090%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 March 2020
volume
1842
2 references
stated in
PubMed
stated in
Europe PubMed Central
PMCID
4058823
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24240090%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 March 2020
issue
6
2 references
stated in
PubMed
stated in
Europe PubMed Central
PMCID
4058823
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24240090%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 March 2020
page(s)
758-764
1 reference
stated in
Europe PubMed Central
PMCID
4058823
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24240090%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 March 2020
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The ribosome assembly factor Nep1 responsible for Bowen-Conradi syndrome is a pseudouridine-N1-specific methyltransferase
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The mouse juvenile spermatogonial depletion (jsd) phenotype is due to a mutation in the X-derived retrogene, mUtp14b
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The 90S preribosome is a multimodular structure that is assembled through a hierarchical mechanism.
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Genetic evidence for 18S rRNA binding and an Rps19p assembly function of yeast nucleolar protein Nep1p
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RNA polymerase I transcription and pre-rRNA processing are linked by specific SSU processome components
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Nep1p (Emg1p), a novel protein conserved in eukaryotes and archaea, is involved in ribosome biogenesis
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Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome
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Mutant WDR36 directly affects axon growth of retinal ganglion cells leading to progressive retinal degeneration in mice
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28 September 2017
Mammalian HCA66 protein is required for both ribosome synthesis and centriole duplication
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28 September 2017
Does expression of the retrogene UTP14c in the ovary pre-dispose women to ovarian cancer?
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28 September 2017
WDR36 and P53 gene variants and susceptibility to primary open-angle glaucoma: analysis of gene-gene interactions.
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28 September 2017
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28 September 2017
A small ribosomal subunit (SSU) processome component, the human U3 protein 14A (hUTP14A) binds p53 and promotes p53 degradation
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28 September 2017
The C-terminus of Utp4, mutated in childhood cirrhosis, is essential for ribosome biogenesis.
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28 September 2017
Ribosomopathies: human disorders of ribosome dysfunction
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28 September 2017
When ribosomes go bad: diseases of ribosome biogenesis
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28 September 2017
Mystery behind Bowen-Conradi syndrome solved: a novel ribosome biogenesis defect
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28 September 2017
Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome
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PubMed Central
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28 September 2017
Spermatogenesis associated retrogenes are expressed in the human ovary and ovarian cancers
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PubMed Central
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28 September 2017
The primary open-angle glaucoma gene WDR36 functions in ribosomal RNA processing and interacts with the p53 stress-response pathway
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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=4058823
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28 September 2017
North American Indian childhood cirrhosis (NAIC)
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PubMed Central
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28 September 2017
Positive regulation of apoptosis by HCA66, a new Apaf-1 interacting protein, and its putative role in the physiopathology of NF1 microdeletion syndrome patients
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28 September 2017
UTP14c is a recently acquired retrogene associated with spermatogenesis and fertility in man.
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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=4058823
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28 September 2017
North American Indian cirrhosis in children: a review of 30 cases
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28 September 2017
The rRNA methyltransferase Bud23 shows functional interaction with components of the SSU processome and RNase MRP.
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PubMed Central
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31 May 2018
Utp14b: a unique retrogene within a gene that has acquired multiple promoters and a specific function in spermatogenesis
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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=4058823
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31 May 2018
The Bowen-Conradi syndrome—a highly lethal autosomal recessive syndrome of microcephaly, micrognathia, low birth weight, and joint deformities
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PubMed Central
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31 May 2018
X chromosome gene methylation in peripheral lymphocytes from monozygotic twins discordant for scleroderma.
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28 November 2018
No Association Between Variations in the WDR36 Gene and Primary Open-Angle Glaucoma
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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=4058823
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28 November 2018
Genetic background has a major effect on the penetrance and severity of craniofacial defects in mice heterozygous for the gene encoding the nucleolar protein Treacle.
1 reference
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PubMed Central
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28 November 2018
A locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3
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PubMed
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https://pubmed.ncbi.nlm.nih.gov/24240090
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12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Spermatogonial differentiation in juvenile spermatogonial depletion (jsd) mice with androgen receptor or follicle-stimulating hormone mutations
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reference URL
https://pubmed.ncbi.nlm.nih.gov/24240090
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12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Syndrome of skeletal and genitourinary anomalies with unusual facies and failure to thrive in Hutterite sibs
1 reference
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https://pubmed.ncbi.nlm.nih.gov/24240090
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12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Genetic factors contributing to defective spermatogonial differentiation in juvenile spermatogonial depletion (Utp14bjsd) mice
1 reference
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https://pubmed.ncbi.nlm.nih.gov/24240090
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Juvenile Spermatogonial Depletion (jsd): A Genetic Defect of Germ Cell Proliferation of Male Mice1
1 reference
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Identifiers
DOI
10.1016/J.BBADIS.2013.11.004
2 references
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2283653
stated in
Europe PubMed Central
PMCID
4058823
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24240090%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 March 2020
OpenCitations bibliographic resource ID
2283653
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2283653
PMCID
4058823
2 references
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2283653
stated in
Europe PubMed Central
PMCID
4058823
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24240090%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 March 2020
PubMed ID
24240090
2 references
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2283653
stated in
Europe PubMed Central
PMCID
4058823
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24240090%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 March 2020
ResearchGate publication ID
258635509
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