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Results: 1 to 20 of 107

1.

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

Bortolin-Cavaillé ML, Cavaillé J.

Nucleic Acids Res. 2012 Aug;40(14):6800-7. doi: 10.1093/nar/gks321. Epub 2012 Apr 11.

PMID:
22495932
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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

Ding F, Prints Y, Dhar MS, Johnson DK, Garnacho-Montero C, Nicholls RD, Francke U.

Mamm Genome. 2005 Jun;16(6):424-31.

PMID:
16075369
[PubMed - indexed for MEDLINE]
3.

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

Duker AL, Ballif BC, Bawle EV, Person RE, Mahadevan S, Alliman S, Thompson R, Traylor R, Bejjani BA, Shaffer LG, Rosenfeld JA, Lamb AN, Sahoo T.

Eur J Hum Genet. 2010 Nov;18(11):1196-201. doi: 10.1038/ejhg.2010.102. Epub 2010 Jun 30.

PMID:
20588305
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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

Cavaillé J, Seitz H, Paulsen M, Ferguson-Smith AC, Bachellerie JP.

Hum Mol Genet. 2002 Jun 15;11(13):1527-38.

PMID:
12045206
[PubMed - indexed for MEDLINE]
Free Article
5.

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

Cavaillé J, Buiting K, Kiefmann M, Lalande M, Brannan CI, Horsthemke B, Bachellerie JP, Brosius J, Hüttenhofer A.

Proc Natl Acad Sci U S A. 2000 Dec 19;97(26):14311-6.

PMID:
11106375
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

The Prader-Willi syndrome murine imprinting center is not involved in the spatio-temporal transcriptional regulation of the Necdin gene.

Watrin F, Le Meur E, Roeckel N, Ripoche MA, Dandolo L, Muscatelli F.

BMC Genet. 2005 Jan 5;6:1.

PMID:
15634360
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Small mosaic deletion encompassing the snoRNAs and SNURF-SNRPN results in an atypical Prader-Willi syndrome phenotype.

Anderlid BM, Lundin J, Malmgren H, Lehtihet M, Nordgren A.

Am J Med Genet A. 2014 Feb;164A(2):425-31. doi: 10.1002/ajmg.a.36307. Epub 2013 Dec 5. Review.

PMID:
24311433
[PubMed - indexed for MEDLINE]
8.

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

Runte M, Hüttenhofer A, Gross S, Kiefmann M, Horsthemke B, Buiting K.

Hum Mol Genet. 2001 Nov 1;10(23):2687-700.

PMID:
11726556
[PubMed - indexed for MEDLINE]
Free Article
9.

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

Kishore S, Khanna A, Zhang Z, Hui J, Balwierz PJ, Stefan M, Beach C, Nicholls RD, Zavolan M, Stamm S.

Hum Mol Genet. 2010 Apr 1;19(7):1153-64. doi: 10.1093/hmg/ddp585. Epub 2010 Jan 6.

PMID:
20053671
[PubMed - indexed for MEDLINE]
Free PMC Article
10.
11.

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

Meguro M, Mitsuya K, Nomura N, Kohda M, Kashiwagi A, Nishigaki R, Yoshioka H, Nakao M, Oishi M, Oshimura M.

Hum Mol Genet. 2001 Feb 15;10(4):383-94.

PMID:
11157801
[PubMed - indexed for MEDLINE]
Free Article
12.

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

Doe CM, Relkovic D, Garfield AS, Dalley JW, Theobald DE, Humby T, Wilkinson LS, Isles AR.

Hum Mol Genet. 2009 Jun 15;18(12):2140-8. doi: 10.1093/hmg/ddp137. Epub 2009 Mar 20.

PMID:
19304781
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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

Powell WT, Coulson RL, Gonzales ML, Crary FK, Wong SS, Adams S, Ach RA, Tsang P, Yamada NA, Yasui DH, Chédin F, LaSalle JM.

Proc Natl Acad Sci U S A. 2013 Aug 20;110(34):13938-43. doi: 10.1073/pnas.1305426110. Epub 2013 Aug 5.

PMID:
23918391
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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

Sahoo T, del Gaudio D, German JR, Shinawi M, Peters SU, Person RE, Garnica A, Cheung SW, Beaudet AL.

Nat Genet. 2008 Jun;40(6):719-21. doi: 10.1038/ng.158. Epub 2008 May 25.

PMID:
18500341
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

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

Gallagher RC, Pils B, Albalwi M, Francke U.

Am J Hum Genet. 2002 Sep;71(3):669-78. Epub 2002 Jul 31.

PMID:
12154412
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

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

Ding F, Li HH, Zhang S, Solomon NM, Camper SA, Cohen P, Francke U.

PLoS One. 2008 Mar 5;3(3):e1709. doi: 10.1371/journal.pone.0001709.

PMID:
18320030
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

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

Runte M, Varon R, Horn D, Horsthemke B, Buiting K.

Hum Genet. 2005 Feb;116(3):228-30. Epub 2004 Nov 23.

PMID:
15565282
[PubMed - indexed for MEDLINE]
18.

Regulation of alternative splicing by snoRNAs.

Kishore S, Stamm S.

Cold Spring Harb Symp Quant Biol. 2006;71:329-34. Review.

PMID:
17381313
[PubMed - indexed for MEDLINE]
19.

A computational screen for C/D box snoRNAs in the human genomic region associated with Prader-Willi and Angelman syndromes.

Sridhar P, Gan HH, Schlick T.

J Biomed Sci. 2008 Nov;15(6):697-705. doi: 10.1007/s11373-008-9271-x. Epub 2008 Jul 27.

PMID:
18661287
[PubMed - indexed for MEDLINE]
20.

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

Leung KN, Vallero RO, DuBose AJ, Resnick JL, LaSalle JM.

Hum Mol Genet. 2009 Nov 15;18(22):4227-38. doi: 10.1093/hmg/ddp373. Epub 2009 Aug 5.

PMID:
19656775
[PubMed - indexed for MEDLINE]
Free PMC Article

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