| 1 | HTR2C, PWS, SNRPN, SNURF
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| The snoRNA MBII-52 (SNORD 115) is processed into smaller RNAs and regulates alternative splicing.
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| Kishore S, Khanna A, Zhang Z, Hui J, Balwierz PJ, Stefan M, Beach C, Nicholls RD, Zavolan M, Stamm S.
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| Hum Mol Genet 19(7):1153-64. Epub 2010 Jan 6. 2010
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| 2 | SNRPN
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| Variable methylation of the imprinted gene, SNRPN, supports a relationship between intracranial germ cell tumours and neural stem cells.
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| Lee SH, Appleby V, Jeyapalan JN, Palmer RD, Nicholson JC, Sottile V, Gao E, Coleman N, Scotting PJ.
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| J Neurooncol Neurooncol. 2010 Jun 26. [Epub ahead of print]PMID: 20582452 2010
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| 3 | SNRPN, SNURF
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| Long nuclear-retained non-coding RNAs and allele-specific higher-order chromatin organization at imprinted snoRNA gene arrays.
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| Vitali P, Royo H, Marty V, Bortolin-Cavaillé ML, Cavaillé J.
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| J Cell Sci 123(Pt 1):70-83.PMID: 20016068 2010
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| 4 | MEG3, SNRPN
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| CpG methylation analysis of the MEG3 and SNRPN imprinted genes in acute myeloid leukemia and myelodysplastic syndromes.
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| Benetatos L, Hatzimichael E, Dasoula A, Dranitsaris G, Tsiara S, Syrrou M, Georgiou I, Bourantas KL.
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| Leuk Res 34(2):148-53.PMID: 19595458 2010
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| 5 | DUP15QP, GABRB3, NDN, SNRPN, UBE3A
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| Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number.
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| Hogart A, Leung KN, Wang NJ, Wu DJ, Driscoll J, Vallero RO, Schanen NC, LaSalle JM.
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| J Med Genet 46(2):86-93. Epub 2008 Oct 7.
2009
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| 6 | SNRPN
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| Identification of CpG methylation of the SNRPN gene by methylation-specific multiplex PCR.
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| Hung CC, Lin SY, Lin SP, Niu DM, Lee NC, Cheng WF, Chen CP, Lin WL, Lee CN, Su YN.
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| Electrophoresis 30(2):410-6.PMID: 19137525 2009
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| 7 | PWS, SNORD115@, SNORD116@, SNRPN, SNURF
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| Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster.
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| Sahoo T, del Gaudio D, German JR, Shinawi M, Peters SU, Person RE, Garnica A, Cheung SW, Beaudet AL.
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| Nat Genet 40(6):719-21. Epub 2008 May 25. 2008
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| 8 | SNRPN
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| Loss of methylation imprint of Snrpn in postovulatory aging mouse oocyte.
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| Liang XW, Zhu JQ, Miao YL, Liu JH, Wei L, Lu SS, Hou Y, Schatten H, Lu KH, Sun QY.
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| Biochem Biophys Res Commun 371(1):16-21. Epub 2008 Mar 31.PMID: 18381202 2008
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| 9 | PWS, SNRPN
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| Analysis of candidate imprinted genes in PWS subjects with atypical genetics: a possible inactivating mutation in the SNURF/SNRPN minimal promoter.
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| Maina EN, Webb T, Soni S, Whittington J, Boer H, Clarke D, Holland A.
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| J Hum Genet 52(4):297-307. Epub 2007 Jan 30. 2007
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| 10 | IGF2, MEST, IPW, SNRPN, PEG3, MEG3, KCNQ1OT1
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| Status of genomic imprinting in human embryonic stem cells as revealed by a large cohort of independently derived and maintained lines.
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| Rugg-Gunn PJ, Ferguson-Smith AC, Pedersen RA.
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| Hum Mol Genet 16 Spec No 2:R243-51. 2007
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| 11 | AS, SNRPN, SNURF, UBE3A
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| SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome.
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| Runte M, Kroisel PM, Gillessen-Kaesbach G, Varon R, Horn D, Cohen MY, Wagstaff J, Horsthemke B, Buiting K.
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| Hum Genet 114(6):553-61. Epub 2004 Mar 10. 2004
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| 12 | IPW, SNORD115@, SNORD116@, SNORD64, SNRPN
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| A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15.
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| Wirth J, Back E, Huttenhofer A, Nothwang HG, Lich C, Gross S, Menzel C, Schinzel A, Kioschis P, Tommerup N, Ropers HH, Horsthemke B, Buiting K.
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| Hum Mol Genet 10(3):201-10. 2001
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| 13 | SNRPN
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| SNRPN methylation patterns in germ cell tumors as a reflection of primordial germ cell development.
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| Bussey KJ, Lawce HJ, Himoe E, Shu XO, Heerema NA, Perlman EJ, Olson SB, Magenis RE.
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| Genes Chromosomes Cancer 32 : 342-352. 2001
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| 14 | AS, ATP10A, PWS, SNORD107, SNORD108, SNORD109A, SNORD109B, SNORD115-1, SNORD115-10, SNORD115-11, SNORD115-12, SNORD115-13, SNORD115-14, SNORD115-15, SNORD115-16, SNORD115-17, SNORD115-18, SNORD115-19, SNORD115-2, SNORD115-20, SNORD115-21, SNORD115-22, SNORD115-23, SNORD115-24, SNORD115-25, SNORD115-26, SNORD115-29, SNORD115-3, SNORD115-30, SNORD115-31, SNORD115-32, SNORD115-33, SNORD115-34, SNORD115-35, SNORD115-36, SNORD115-37, SNORD115-38, SNORD115-39, SNORD115-4, SNORD115-40, SNORD115-41, SNORD115-42, SNORD115-43, SNORD115-44, SNORD115-48, SNORD115-5, SNORD115-6, SNORD115-7, SNORD115-8, SNORD115-9, SNORD115@, SNORD116-1, SNORD116-10, SNORD116-11, SNORD116-12, SNORD116-13, SNORD116-14, SNORD116-15, SNORD116-16, SNORD116-17, SNORD116-18, SNORD116-19, SNORD116-2, SNORD116-20, SNORD116-21, SNORD116-22, SNORD116-23, SNORD116-24, SNORD116-25, SNORD116-26, SNORD116-27, SNORD116-28, SNORD116-29, SNORD116-3, SNORD116-4, SNORD116-5, SNORD116-6, SNORD116-7, SNORD116-8, SNORD116-9, SNORD116@, SNORD64, SNRPN, SNURF, UBE3A
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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.
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| Runte M, Huttenhofer A, Gross S, Kiefmann M, Horsthemke B, Buiting K.
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| Hum Mol Genet 10(23):2687-700. 2001
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| 15 | SNRPN
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| De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch.
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| Bielinska B, Blaydes SM, Buiting K, Yang T, Krajewska-Walasek M, Horsthemke B, Brannan CI.
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| Nat Genet 25(1):74-8. 2000
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| 16 | C15orf49, SNORD108, SNORD109A, SNORD109B, SNORD115@, SNORD116@, SNORD64, SNRPN
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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.
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| de los Santos T, Schweizer J, Rees CA, Francke U.
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| Am J Hum Genet 67(5):1067-82. Epub 2000 Sep 26. 2000
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| 17 | IC15, SNRPN
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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.
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| Frber C, et al.
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| Hum Mol Genet 8 : 337-343. 1999
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| 18 | PWS, SNRPN
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| Prader-Willi syndrome is caused by disruption of the SNRPN gene.
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| Kuslich CD, et al.
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| Am J Hum Genet 64 : 70-76. 1999
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| 19 | IC15, PWS, SNRPN
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| Imprinting-mutation mechanisms in prader-willi syndrome.
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| Ohta T, et al.
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| Am J Hum Genet 64(2):397-413. 1999
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| 20 | AS,IC15,SNRPN
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| Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation.
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| Ohta T, et al.
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| Am J Hum Genet 64(2):385-96. 1999
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| 21 | PWS, SNRPN
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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.
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| Tsai TF, et al.
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| Hum Mol Genet 8(8):1357-64. 1999
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| 22 | SNURF, SNRPN
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| An imprinted, mammalian bicistronic transcript encodes two independent proteins.
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| Gray TA, et al.
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| Proc Natl Acad Sci U S A 96(10):5616-21. 1999
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| 23 | H19, SNRPN
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| Methylation Imprinting of H19 and SNRPN Genes in Human Benign Ovarian Teratomas.
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| Miura K, Obama M, Yun K, Masuzaki H, Ikeda Y, Yoshimura S, Akashi T, Niikawa N, Ishimaru T, Jinno Y.
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| Am J Hum Genet 65(5):1359-1367 1999
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| 24 | IC15, MKRN3, PWS, SNRPN, SNURF
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| Conserved characteristics of heterochromatin-forming DNA at the 15q11-q13 imprinting center.
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| Greally JM, Gray TA, Gabriel JM, Song L, Zemel S, Nicholls RD.
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| Proc Natl Acad Sci U S A 96(25):14430-5 1999
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| 25 | D15S63, AS, PWS, SNRPN
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| Clonal heterogeneity at allelic methylation sites diagnostic for Prader-Willi and Angelman syndromes.
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| LaSalle JM, et al.
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| Proc Natl Acad Sci U S A 95 : 1675-1680. 1998
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| 26 | IC15, PWS, SNRPN
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| A mouse model for Prader-Willi syndrome imprinting-centre mutations.
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| Yang T, et al.
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| Nat Genet 19 : 25-31. 1998
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| 27 | SNRPN
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| Imprinted expression of SNRPN in human preimplantation embryos.
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| Huntriss J, et al.
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| Am J Hum Genet 63 : 1009-1014. 1998
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| 28 | SNRPN
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| Sequencing and functional analysis of the SNRPN promoter: in vitro methylation abolishes promoter activity.
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| Huq AH, Sutcliffe JS, Nakao M, Shen Y, Gibbs RA, Beaudet AL.
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| Genome Res 7(6):642-8. 1997
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| 29 | SNRPN
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| Identification of novel exons 3' to the human SNRPN gene.
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| Buiting K, et al.
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| Genomics 40(1):132-7. 1997
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| 30 | SNRPN
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| Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene.
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| Glenn CC, et al.
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| Am J Hum Genet 58 : 335-346. 1996
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| 31 | PWS, SNRPN
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| Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint.
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| Schulze A, et al.
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| Nat Genet 12 : 452-454. 1996
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| 32 | PWS, SNRPN
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| Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient.
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| Sun Y, et al.
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| Hum Mol Genet 5 : 517-524. 1996
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| 33 | PAR5, PARSN, PWS, SNRPN
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| Identification of a novel paternally expressed transcript adjacent to snRPN in the Prader-Willi syndrome critical region.
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| Ning Y, et al.
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| Genome Res 6 : 742-746. 1996
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| 34 | AS, IC15, PWS, SNRPN
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| Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene.
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| Dittrich B, et al.
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| Nat Genet 14 : 163-164. 1996
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| 35 | PWS, SNRPN
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| Diagnostic test for the Prader-Willi syndrome by SNRPN expression in blood.
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| Wevrick R, et al.
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| Lancet 348 : 1068-1069. 1996
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| 36 | SNRPN
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| Single nucleotide dimorphism in the transcribed region of the SNRPN gene at 15q12.
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| Giacalone J, et al.
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| Hum Mol Genet 3 : 379. 1994
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| 37 | PWS, SNRPN
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| Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region.
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| Sutcliffe JS, et al.
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| Nat Genet 8 : 52-58. 1994
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| 38 | SNRPN
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| Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome.
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| Reed ML, et al.
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| Nat Genet 6 : 163-167. 1994
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| 39 | SNRPN
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| Functional imprinting and epigenetic modification of the human SNRPN gene.
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| Glenn CC, et al.
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| Hum Mol Genet 2 : 2001-2005. 1993
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| 40 | PWS, AS, SNRPN
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| A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene.
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| Mutirangura A, et al.
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| Genomics 18 : 546-552. 1993
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| 41 | SNRPN
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| A candidate mouse model for Prader-Willi syndrome which shows an absence of Snrpn expression.
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| Cattanach BM, et al.
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| Nat Genet 2 : 270-274. 1992
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| 42 | SNRPN
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| Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader-Willi syndrome region.
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| Leff SE, et al.
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| Nat Genet 2 : 259-264. 1992
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| 43 | SNRPN
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| Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region.
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| Ozcelik T, et al.
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| Nat Genet 2 : 265-269. 1992
|