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.
about
Deletion of the MBII-85 snoRNA gene cluster in mice results in postnatal growth retardationSnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in miceMAGE-A1 interacts with adaptor SKIP and the deacetylase HDAC1 to repress transcriptionSmall 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 brainIdentification of novel imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: further evidence for regional imprinting controlTopoisomerase inhibitors unsilence the dormant allele of Ube3a in neuronsIdentification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organizationAltered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3.The neurobiology of the Prader-Willi phenotype of fragile X syndromePrader-Willi and Angelman syndromes: sister imprinted disordersThe trophinin gene encodes a novel group of MAGE proteins, magphinins, and regulates cell proliferation during gametogenesis in the mouseDeficiency of Rbbp1/Arid4a and Rbbp1l1/Arid4b alters epigenetic modifications and suppresses an imprinting defect in the PWS/AS domainDeficiencies in the region syntenic to human 21q22.3 cause cognitive deficits in mice.Modeling chromosomes in mouse to explore the function of genes, genomic disorders, and chromosomal organizationThe parental non-equivalence of imprinting control regions during mammalian development and evolution.Mice with altered serotonin 2C receptor RNA editing display characteristics of Prader-Willi syndrome.Imprinted genes and mental dysfunction.Transcription is required to establish maternal imprinting at the Prader-Willi syndrome and Angelman syndrome locus.An unexpected function of the Prader-Willi syndrome imprinting center in maternal imprinting in miceWhen ribosomes go bad: diseases of ribosome biogenesis.A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndromeControlled somatic and germline copy number variation in the mouse modelThe MAGE proteins: emerging roles in cell cycle progression, apoptosis, and neurogenetic disease.Regulatory elements associated with paternally-expressed genes in the imprinted murine Angelman/Prader-Willi syndrome domain.A deficiency in the region homologous to human 17q21.33-q23.2 causes heart defects in mice.A haplolethal locus uncovered by deletions in the mouse T complexNon-coding RNAs in imprinted gene clusters.Global deficits in development, function, and gene expression in the endocrine pancreas in a deletion mouse model of Prader-Willi syndrome.Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disordersTruncation of Ube3a-ATS unsilences paternal Ube3a and ameliorates behavioral defects in the Angelman syndrome mouse modelThe neurobiology of mouse models syntenic to human chromosome 15q.Temporal and developmental requirements for the Prader-Willi imprinting center.Gabrb3 gene deficient mice exhibit increased risk assessment behavior, hypotonia and expansion of the plexus of locus coeruleus dendritesNovel Tandem Duplication in Exon 1 of the SNURF/SNRPN Gene in a Child with Transient Excessive Eating Behaviour and Weight Gain.Imprinted small RNA genes.The influence of non-coding RNAs on allele-specific gene expression in mammals.Identification and proteomic analysis of distinct UBE3A/E6AP protein complexes.Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3aSnord116 is critical in the regulation of food intake and body weightMouse chromosome engineering for modeling human disease.
P2860
Q21092489-27D15229-9C0F-4B17-908B-1BCBFDFFE714Q21562297-E61A8BF1-692C-428B-AA42-85B5974D87BDQ24301553-343C7B6E-0B10-455F-AA1D-EE875A7A6003Q24534447-3A424E3A-117A-4D97-B747-1542FEC06A7BQ24539092-C973E6B2-F989-4EB2-AFFB-81399C668854Q24610399-23C29E75-0D37-47E2-8BB4-CAA08040F8BAQ24673252-AE9DB354-9FBA-4C1A-8EFC-433A8E52D4B7Q27321157-D1EAEBAD-802E-42FF-8E8F-795A9467E486Q28078294-50B888CE-49ED-4D89-923C-7C9D6DF342FAQ28200133-E6309C6F-A595-411A-A390-CBA41DA2D98DQ28509419-93C825CF-E843-46AB-8D16-454E994199F5Q28511651-6093F43C-E215-4F4F-90C6-10EAD3EB228CQ30497935-5962F390-A827-41A1-B7B2-F610A74ACC28Q33250070-37E252F9-3FE2-437F-B34F-0EB547E4BA92Q33761234-F2FCF78C-B37E-41D9-A3A8-F426F5E865ECQ34006076-3D99102C-8ABE-4E21-BC0E-CDA44EF3D9EFQ34093571-D8D35EDF-CEC4-4FFC-A480-F5007657359DQ34126322-17E09428-EFEF-4F98-8E0D-35B6B589FE1DQ34230048-CBD7E74F-40AD-4A0C-9394-388096EC972EQ34248659-2BFCB5F1-E140-4F97-A041-88EDD90A47C3Q34326210-F9449381-76AE-4585-8B03-54E73E2B4F65Q34479642-4FCEA055-1A4A-41F6-9F52-866CB94F48E5Q34561533-458247B7-4C08-4F0C-AAEB-E738905AF93AQ34579857-50E2546F-7EFD-4F41-BB1D-BC0A8CE937C6Q34611573-42945FF4-B960-485F-903D-C6D76749AC01Q34614413-2A0F4501-68F7-4132-944F-9AACD9B0CBFCQ34749691-7F3DF72A-F0D5-43F4-8504-ED36AEFBF637Q34979374-832B8B83-1B4F-495C-8A17-2F4E33ED1CC7Q35009426-3FCB8570-DA3B-46D1-9725-39F8C5C1ED8EQ35079892-5B39B419-C80D-4DA8-97B5-DC4DCBFC0E14Q35680716-147B3D10-14C5-432C-AAAD-501049A47F77Q35807517-6DC40FA7-518E-45CA-A182-EAB5F49A7FE3Q35846750-84647489-1EB3-447D-92B4-4E45278F16EDQ35888754-95E2AA5C-9A23-469E-A5F7-A344718735CAQ35954758-FCB99223-02CA-45D5-923A-08EDD4C55621Q36088917-CA2A930E-5726-4075-AE2E-6552A8DE815EQ36210923-4CFDC2DE-A681-40B0-A9E0-4562A21A0748Q36301671-F78C039F-3103-46C6-BC45-126CE4066FE4Q36423032-B23032A3-B31D-41EF-859B-7C40EB128931Q36528831-3907D607-1755-4B6C-A7B3-0735C1348BE1
P2860
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.
description
1999 nî lūn-bûn
@nan
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
1999年论文
@zh
1999年论文
@zh-cn
name
Paternal deletion from Snrpn t ...... ting to Prader-Willi syndrome.
@en
Paternal deletion from Snrpn t ...... ting to Prader-Willi syndrome.
@nl
type
label
Paternal deletion from Snrpn t ...... ting to Prader-Willi syndrome.
@en
Paternal deletion from Snrpn t ...... ting to Prader-Willi syndrome.
@nl
prefLabel
Paternal deletion from Snrpn t ...... ting to Prader-Willi syndrome.
@en
Paternal deletion from Snrpn t ...... ting to Prader-Willi syndrome.
@nl
P2093
P2860
P356
P1476
Paternal deletion from Snrpn t ...... ting to Prader-Willi syndrome.
@en
P2093
A L Beaudet
D Armstrong
J Bressler
P2860
P304
P356
10.1093/HMG/8.8.1357
P577
1999-08-01T00:00:00Z