Box C/D small nucleolar RNA genes and the Prader-Willi syndrome: a complex interplay (Q39179848)

9 September 2017

title

Box C/D small nucleolar RNA genes and the Prader-Willi syndrome: a complex interplay (English)

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9 September 2017

main subject

Prader–Willi syndrome

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Jérôme Cavaillé

1

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9 September 2017

publication date

13 March 2017

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Wiley interdisciplinary reviews. RNA

9 September 2017

published in

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9 September 2017

volume

8

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9 September 2017

issue

4

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

9 September 2017

cites work

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The structure and function of small nucleolar ribonucleoproteins

21 January 2018

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Processing of the precursors to small nucleolar RNAs and rRNAs requires common components

21 January 2018

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Assembly and trafficking of box C/D and H/ACA snoRNPs

21 January 2018

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Targeted ribose methylation of RNA in vivo directed by tailored antisense RNA guides

21 January 2018

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Nucleolar factors direct the 2'-O-ribose methylation and pseudouridylation of U6 spliceosomal RNA

21 January 2018

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

21 January 2018

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Site-specific ribose methylation of preribosomal RNA: a novel function for small nucleolar RNAs

21 January 2018

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Profiling of 2'-O-Me in human rRNA reveals a subset of fractionally modified positions and provides evidence for ribosome heterogeneity

21 January 2018

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Tuning the ribosome: The influence of rRNA modification on eukaryotic ribosome biogenesis and function.

21 January 2018

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rRNA modifications and ribosome function

21 January 2018

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Spliceosomal snRNA modifications and their function

21 January 2018

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Loss of ribosomal RNA modification causes developmental defects in zebrafish

21 January 2018

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The emerging landscape of small nucleolar RNAs in cell biology

21 January 2018

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Genomic imprinting in mammals

21 January 2018

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Phenotypic outcomes of imprinted gene models in mice: elucidation of pre- and postnatal functions of imprinted genes

21 January 2018

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Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization

21 January 2018

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Identification of tandemly-repeated C/D snoRNA genes at the imprinted human 14q32 domain reminiscent of those at the Prader-Willi/Angelman syndrome region

21 January 2018

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Genomic imprinting: the emergence of an epigenetic paradigm.

21 January 2018

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Small regulatory RNAs controlled by genomic imprinting and their contribution to human disease

21 January 2018

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Do repeated arrays of regulatory small-RNA genes elicit genomic imprinting?: Concurrent emergence of large clusters of small non-coding RNAs and genomic imprinting at four evolutionarily distinct eutherian chromosomal loci

21 January 2018

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Non-coding RNAs in imprinted gene clusters

21 January 2018

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The microRNAs within the DLK1-DIO3 genomic region: involvement in disease pathogenesis

21 January 2018

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The early days of RNomics

21 January 2018

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Expression of SNURF-SNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesis

21 January 2018

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Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene

21 January 2018

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The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion

21 January 2018

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Identification of a novel paternally expressed gene in the Prader-Willi syndrome region

21 January 2018

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RNAs of the human chromosome 15q11-q13 imprinted region

21 January 2018

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21 January 2018

Imprinting in neurons

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Gender influences monoallelic expression of ATP10A in human brain

21 January 2018

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Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which Is highly expressed in brain

21 January 2018

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Large-scale evaluation of imprinting status in the Prader-Willi syndrome region: an imprinted direct repeat cluster resembling small nucleolar RNA genes.

21 January 2018

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The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A

21 January 2018

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Truncation of Ube3a-ATS unsilences paternal Ube3a and ameliorates behavioral defects in the Angelman syndrome mouse model

21 January 2018

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Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader–Willi syndromes

21 January 2018

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Differential regulation of non-protein coding RNAs from Prader-Willi Syndrome locus.

21 January 2018

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Imprinted expression of UBE3A in non-neuronal cells from a Prader-Willi syndrome patient with an atypical deletion

21 January 2018

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Long nuclear-retained non-coding RNAs and allele-specific higher-order chromatin organization at imprinted snoRNA gene arrays

21 January 2018

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Digital Genome-Wide ncRNA Expression, Including SnoRNAs, across 11 Human Tissues Using PolyA-Neutral Amplification

21 January 2018

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Regulation of the large (approximately 1000 kb) imprinted murine Ube3a antisense transcript by alternative exons upstream of Snurf/Snrpn.

21 January 2018

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Prader-Willi syndrome transcripts are expressed in phenotypically significant regions of the developing mouse brain

21 January 2018

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Recent assembly of an imprinted domain from non-imprinted components.

21 January 2018

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The expanding snoRNA world

21 January 2018

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Molecular evolution of the HBII-52 snoRNA cluster

21 January 2018

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Rapid birth-and-death evolution of imprinted snoRNAs in the Prader-Willi syndrome locus: implications for neural development in Euarchontoglires

21 January 2018

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A novel brain-specific box C/D small nucleolar RNA processed from tandemly repeated introns of a noncoding RNA gene in rats

21 January 2018

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A novel type of non-coding RNA expressed in the rat brain

21 January 2018

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Prader–Willi syndrome and Angelman syndrome

21 January 2018

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Development of the eating behaviour in Prader-Willi Syndrome: advances in our understanding.

21 January 2018

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21 January 2018

Prader-Willi syndrome.

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Mouse models of Prader-Willi Syndrome: a systematic review

21 January 2018

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Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi Syndrome

21 January 2018

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A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism

21 January 2018

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Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome

21 January 2018

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Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

21 January 2018

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Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome

21 January 2018

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Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome

21 January 2018

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A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15

21 January 2018

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A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome

21 January 2018

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Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome

21 January 2018

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The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

21 January 2018

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Lack of Pwcr1/MBII-85 snoRNA is critical for neonatal lethality in Prader-Willi syndrome mouse models

21 January 2018

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SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice

21 January 2018

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Deletion of the MBII-85 snoRNA gene cluster in mice results in postnatal growth retardation

21 January 2018

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A mouse model for Prader-Willi syndrome imprinting-centre mutations

21 January 2018

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A transgene insertion creating a heritable chromosome deletion mouse model of Prader-Willi and angelman syndromes

21 January 2018

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Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome

21 January 2018

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Snord116 is critical in the regulation of food intake and body weight

21 January 2018

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Maternal transcription of non-protein coding RNAs from the PWS-critical region rescues growth retardation in mice.

21 January 2018

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Neonatal maternal deprivation response and developmental changes in gene expression revealed by hypothalamic gene expression profiling in mice

21 January 2018

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Hypothalamic expression of snoRNA Snord116 is consistent with a link to the hyperphagia and obesity symptoms of Prader-Willi syndrome

21 January 2018

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A Prader-Willi locus lncRNA cloud modulates diurnal genes and energy expenditure

21 January 2018

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Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome

21 January 2018

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Prader-Willi Critical Region, a Non-Translated, Imprinted Central Regulator of Bone Mass: Possible Role in Skeletal Abnormalities in Prader-Willi Syndrome.

21 January 2018

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Abnormal response to the anorexic effect of GHS-R inhibitors and exenatide in male Snord116 deletion mouse model for Prader-Willi syndrome.

21 January 2018

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Behavioural characteristics of the Prader-Willi syndrome related biallelic Snord116 mouse model

21 January 2018

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Working-for-Food Behaviors: A Preclinical Study in Prader-Willi Mutant Mice

21 January 2018

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Deletion of the Snord116/SNORD116 Alters Sleep in Mice and Patients with Prader-Willi Syndrome

21 January 2018

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Induced pluripotent stem cells (iPSC) created from skin fibroblasts of patients with Prader-Willi syndrome (PWS) retain the molecular signature of PWS.

21 January 2018

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Hormonal and metabolic defects in a prader-willi syndrome mouse model with neonatal failure to thrive

21 January 2018

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The snoRNA MBII-52 (SNORD 115) is processed into smaller RNAs and regulates alternative splicing

21 January 2018

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Direct cloning of double-stranded RNAs from RNase protection analysis reveals processing patterns of C/D box snoRNAs and provides evidence for widespread antisense transcript expression

21 January 2018

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The SNORD115 (H/MBII-52) and SNORD116 (H/MBII-85) gene clusters at the imprinted Prader-Willi locus generate canonical box C/D snoRNAs

21 January 2018

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Long noncoding RNAs with snoRNA ends

21 January 2018

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Unusual Processing Generates SPA LncRNAs that Sequester Multiple RNA Binding Proteins.

21 January 2018

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Species-specific alternative splicing leads to unique expression of sno-lncRNAs

21 January 2018

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Bsr, a nuclear-retained RNA with monoallelic expression

21 January 2018

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An imprinted mouse transcript homologous to the human imprinted in Prader-Willi syndrome (IPW) gene.

21 January 2018

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The noncoding RNA IPW regulates the imprinted DLK1-DIO3 locus in an induced pluripotent stem cell model of Prader-Willi syndrome

21 January 2018

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Regulatory links between imprinted genes: evolutionary predictions and consequences

21 January 2018

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Efficient in vivo deletion of a large imprinted lncRNA by CRISPR/Cas9.

21 January 2018

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Regulation of serotonin-2C receptor G-protein coupling by RNA editing

21 January 2018

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Altered G protein-coupling functions of RNA editing isoform and splicing variant serotonin2C receptors

21 January 2018

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Evidence that RNA editing modulates splice site selection in the 5-HT2C receptor gene

21 January 2018

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ADAR2-mediated editing of RNA substrates in the nucleolus is inhibited by C/D small nucleolar RNAs

21 January 2018

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Contributions of 5-HT(2C) receptors to multiple actions of central serotonin systems

21 January 2018

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Leptin-independent hyperphagia and type 2 diabetes in mice with a mutated serotonin 5-HT2C receptor gene

21 January 2018

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Eating disorder and epilepsy in mice lacking 5-HT2c serotonin receptors

21 January 2018

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RNA splicing and editing modulation of 5-HT(2C) receptor function: relevance to anxiety and aggression in VGV mice

21 January 2018

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The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C

21 January 2018

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Oligonucleotide-induced alternative splicing of serotonin 2C receptor reduces food intake

21 January 2018

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RNA editing of the human serotonin 5-hydroxytryptamine 2C receptor silences constitutive activity

21 January 2018

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Dysregulated editing of serotonin 2C receptor mRNAs results in energy dissipation and loss of fat mass

21 January 2018

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Mice with altered serotonin 2C receptor RNA editing display characteristics of Prader-Willi syndrome

21 January 2018

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Serotonin 2C Receptor (5-HT2CR) mRNA Editing–Induced Down-Regulation of 5-HT2CR Function in Xenopus Oocytes: the Significance of Site C Editing

21 January 2018

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Loss of the imprinted snoRNA mbii-52 leads to increased 5htr2c pre-RNA editing and altered 5HT2CR-mediated behaviour

21 January 2018

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Increased alternate splicing of Htr2c in a mouse model for Prader-Willi syndrome leads disruption of 5HT2C receptor mediated appetite

21 January 2018

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Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism

21 January 2018

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High-throughput multiplexed transcript analysis yields enhanced resolution of 5-hydroxytryptamine 2C receptor mRNA editing profiles.

21 January 2018

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Regionally reduced brain volume, altered serotonin neurochemistry, and abnormal behavior in mice null for the circadian rhythm output gene Magel2.

21 January 2018

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Necdin plays a role in the serotonergic modulation of the mouse respiratory network: implication for Prader-Willi syndrome

21 January 2018

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Prader-Willi syndrome, Snord115, and Htr2c editing

21 January 2018

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Prevention of 5-hydroxytryptamine2C receptor RNA editing and alternate splicing in C57BL/6 mice activates the hypothalamic-pituitary-adrenal axis and alters mood

21 January 2018

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The snoRNA MBII-52 regulates cocaine-induced conditioned place preference and locomotion in mice

21 January 2018

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Serotonin2C receptors and drug addiction: focus on cocaine

21 January 2018

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Contextual fear conditioning regulates the expression of brain-specific small nucleolar RNAs in hippocampus

21 January 2018

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RNA Editing Induces Variation in Desensitization and Trafficking of 5-Hydroxytryptamine 2c Receptor Isoforms

21 January 2018

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Ribosomopathies: how a common root can cause a tree of pathologies

21 January 2018

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Ribosomopathies: Global process, tissue specific defects

21 January 2018

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Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia

21 January 2018

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

21 January 2018

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Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum

21 January 2018

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

21 January 2018

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Requirement for intron-encoded U22 small nucleolar RNA in 18S ribosomal RNA maturation

21 January 2018

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Imprinting regulates mammalian snoRNA-encoding chromatin decondensation and neuronal nucleolar size.

21 January 2018

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Identification of novel ribonucleo-protein complexes from the brain-specific snoRNA MBII-52.

21 January 2018

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snoTARGET shows that human orphan snoRNA targets locate close to alternative splice junctions

21 January 2018

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PLEXY: efficient target prediction for box C/D snoRNAs

21 January 2018

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Matching of Soulmates: coevolution of snoRNAs and their targets

21 January 2018

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SNORD116 and SNORD115 change expression of multiple genes and modify each other's activity

21 January 2018

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Translating the genome in time and space: specialized ribosomes, RNA regulons, and RNA-binding proteins

21 January 2018

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Specialized ribosomes: a new frontier in gene regulation and organismal biology

21 January 2018

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Dual function of C/D box small nucleolar RNAs in rRNA modification and alternative pre-mRNA splicing

21 January 2018

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Global Mapping of Human RNA-RNA Interactions

21 January 2018

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Rpl13a small nucleolar RNAs regulate systemic glucose metabolism

21 January 2018

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Box C/D small nucleolar RNA (snoRNA) U60 regulates intracellular cholesterol trafficking.

21 January 2018

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The noncoding RNAs SNORD50A and SNORD50B bind K-Ras and are recurrently deleted in human cancer

21 January 2018

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Reactivation of maternal SNORD116 cluster via SETDB1 knockdown in Prader-Willi syndrome iPSCs

21 January 2018

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R-loop formation at Snord116 mediates topotecan inhibition of Ube3a-antisense and allele-specific chromatin decondensation.

21 January 2018

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Considerations when investigating lncRNA function in vivo.

21 January 2018

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Induced Pluripotent Stem Cells Can Be Used to Model the Genomic Imprinting Disorder Prader-Willi Syndrome

21 January 2018

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Familial interstitial 570 kbp deletion of theUBE3Agene region causing Angelman syndrome but not Prader-Willi syndrome

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/WRNA.1417

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9 September 2017

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