A mouse model for Prader-Willi syndrome imprinting-centre mutations - Wikidata - awgldk - TriplyDB

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

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

http://www.wikidata.org/entity/Q28271033

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Deletion of the MBII-85 snoRNA gene cluster in mice results in postnatal growth retardation Genomic imprinting in mammals: emerging themes and established theories SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice An imprinted, mammalian bicistronic transcript encodes two independent proteins Maternal disruption of Ube3a leads to increased expression of Ube3a-ATS in trans.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 Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus Identification of novel imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: further evidence for regional imprinting control The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13 Bidirectional action of the Igf2r imprint control element on upstream and downstream imprinted genes Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization The Prader-Willi syndrome murine imprinting center is not involved in the spatio-temporal transcriptional regulation of the Necdin gene Genetic mapping of putative Chrna7 and Luzp2 neuronal transcriptional enhancers due to impact of a transgene-insertion and 6.8 Mb deletion in a mouse model of Prader-Willi and Angelman syndromes.Maintaining memory of silencing at imprinted differentially methylated regions Genetics of Prader-Willi syndrome and Prader-Will-Like syndrome Prader-Willi and Angelman syndromes: sister imprinted disorders Loss of the imprinted snoRNA mbii-52 leads to increased 5htr2c pre-RNA editing and altered 5HT2CR-mediated behaviour Deficiency of Rbbp1/Arid4a and Rbbp1l1/Arid4b alters epigenetic modifications and suppresses an imprinting defect in the PWS/AS domain Epigenetic functions of smchd1 repress gene clusters on the inactive X chromosome and on autosomes Role of histone methyltransferase G9a in CpG methylation of the Prader-Willi syndrome imprinting center.Angelman syndrome imprinting center encodes a transcriptional promoter.Zac1 (Lot1), a potential tumor suppressor gene, and the gene for epsilon-sarcoglycan are maternally imprinted genes: identification by a subtractive screen of novel uniparental fibroblast lines.A screen for retrotransposed imprinted genes reveals an association between X chromosome homology and maternal germ-line methylation Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region Genomic imprinting: implications for human disease.Identification of a methylation imprint mark within the mouse Gnas locus.Mice with altered serotonin 2C receptor RNA editing display characteristics of Prader-Willi syndrome.Mammalian genomic imprinting.Domain-specific response of imprinted genes to reduced DNMT1.Imprinted genes and mental dysfunction.Transcription is required to establish maternal imprinting at the Prader-Willi syndrome and Angelman syndrome locus.Necdin controls proliferation of white adipocyte progenitor cells.The role of genomic imprinting in human developmental disorders: lessons from Prader-Willi syndrome.An unexpected function of the Prader-Willi syndrome imprinting center in maternal imprinting in mice Shared role for differentially methylated domains of imprinted genes.Imprinting-mutation mechanisms in Prader-Willi syndrome BACs as tools for the study of genomic imprinting.Polymorphisms in the SNRPN gene are associated with obesity susceptibility in a Spanish population.The MAGE proteins: emerging roles in cell cycle progression, apoptosis, and neurogenetic disease.Genetic differentiation of hypothalamus parentally biased transcripts in populations of the house mouse implicate the Prader-Willi syndrome imprinted region as a possible source of behavioral divergence.

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

http://www.wikidata.org/entity/Q28271033

description

1998 nî lūn-bûn

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1998 թուականի Մայիսին հրատարակուած գիտական յօդուած

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1998 թվականի մայիսին հրատարակված գիտական հոդված

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1998年の論文

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1998年論文

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1998年論文

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1998年論文

@zh-hk

1998年論文

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1998年論文

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1998年论文

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name

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

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

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

@nl

type

label

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

@ast

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

@en

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

@nl

prefLabel

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

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

@en

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

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Nature Genetics

P1476

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

@en

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C I Brannan

http://www.w3.org/2001/XMLSchema#string

J L Resnick

http://www.w3.org/2001/XMLSchema#string

N A Jenkins

http://www.w3.org/2001/XMLSchema#string

N G Copeland

http://www.w3.org/2001/XMLSchema#string

S Leff

http://www.w3.org/2001/XMLSchema#string

T E Adamson

http://www.w3.org/2001/XMLSchema#string

T Yang

http://www.w3.org/2001/XMLSchema#string

U Francke

http://www.w3.org/2001/XMLSchema#string

P2860

Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome

UBE3A/E6-AP mutations cause Angelman syndrome

Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region

Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region

The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse

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

Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient

Uniparental paternal disomy in Angelman's syndrome.

A novel brain-specific mRNA encoding nuclear protein (necdin) expressed in neurally differentiated embryonal carcinoma cells.

Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.

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25-31

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3234550

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10.1038/NG0598-25

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1

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19

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9590284

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