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Results: 1 to 20 of 118

1.

Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I.

He H, Liyanarachchi S, Akagi K, Nagy R, Li J, Dietrich RC, Li W, Sebastian N, Wen B, Xin B, Singh J, Yan P, Alder H, Haan E, Wieczorek D, Albrecht B, Puffenberger E, Wang H, Westman JA, Padgett RA, Symer DE, de la Chapelle A.

Science. 2011 Apr 8;332(6026):238-40. doi: 10.1126/science.1200587.

PMID:
21474760
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA.

Edery P, Marcaillou C, Sahbatou M, Labalme A, Chastang J, Touraine R, Tubacher E, Senni F, Bober MB, Nampoothiri S, Jouk PS, Steichen E, Berland S, Toutain A, Wise CA, Sanlaville D, Rousseau F, Clerget-Darpoux F, Leutenegger AL.

Science. 2011 Apr 8;332(6026):240-3. doi: 10.1126/science.1202205.

PMID:
21474761
[PubMed - indexed for MEDLINE]
Free Article
3.

Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene.

Nagy R, Wang H, Albrecht B, Wieczorek D, Gillessen-Kaesbach G, Haan E, Meinecke P, de la Chapelle A, Westman JA.

Clin Genet. 2012 Aug;82(2):140-6. doi: 10.1111/j.1399-0004.2011.01756.x. Epub 2011 Aug 28.

PMID:
21815888
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Genetics. Minor splicing, disrupted.

Pessa HK, Frilander MJ.

Science. 2011 Apr 8;332(6026):184-5. doi: 10.1126/science.1205503. No abstract available.

PMID:
21474744
[PubMed - indexed for MEDLINE]
5.

A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder.

Abdel-Salam GM, Miyake N, Eid MM, Abdel-Hamid MS, Hassan NA, Eid OM, Effat LK, El-Badry TH, El-Kamah GY, El-Darouti M, Matsumoto N.

Am J Med Genet A. 2011 Nov;155A(11):2885-96. doi: 10.1002/ajmg.a.34299. Epub 2011 Oct 11.

PMID:
21990275
[PubMed - indexed for MEDLINE]
6.

Domains of human U4atac snRNA required for U12-dependent splicing in vivo.

Shukla GC, Cole AJ, Dietrich RC, Padgett RA.

Nucleic Acids Res. 2002 Nov 1;30(21):4650-7.

PMID:
12409455
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I.

Abdel-Salam GM, Abdel-Hamid MS, Issa M, Magdy A, El-Kotoury A, Amr K.

Am J Med Genet A. 2012 Jun;158A(6):1455-61. doi: 10.1002/ajmg.a.35356. Epub 2012 May 11.

PMID:
22581640
[PubMed - indexed for MEDLINE]
8.

The abundance of the spliceosomal snRNPs is not limiting the splicing of U12-type introns.

Pessa HK, Ruokolainen A, Frilander MJ.

RNA. 2006 Oct;12(10):1883-92. Epub 2006 Sep 6.

PMID:
16957280
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

U4 small nuclear RNA can function in both the major and minor spliceosomes.

Shukla GC, Padgett RA.

Proc Natl Acad Sci U S A. 2004 Jan 6;101(1):93-8. Epub 2003 Dec 22.

PMID:
14691257
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Biochemical defects in minor spliceosome function in the developmental disorder MOPD I.

Jafarifar F, Dietrich RC, Hiznay JM, Padgett RA.

RNA. 2014 Jul;20(7):1078-89. doi: 10.1261/rna.045187.114. Epub 2014 May 27.

PMID:
24865609
[PubMed - in process]
11.

The conserved 3' end domain of U6atac snRNA can direct U6 snRNA to the minor spliceosome.

Dietrich RC, Padgett RA, Shukla GC.

RNA. 2009 Jun;15(6):1198-207. doi: 10.1261/rna.1505709. Epub 2009 Apr 16.

PMID:
19372536
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Base pairing with U6atac snRNA is required for 5' splice site activation of U12-dependent introns in vivo.

Incorvaia R, Padgett RA.

RNA. 1998 Jun;4(6):709-18.

PMID:
9622129
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

[Extreme microcephaly and growth retardation caused by mutations in a non-coding RNA component of the minor spliceosome].

Edery P, Alix E, Clerget-Darpoux F, Leutenegger AL.

Med Sci (Paris). 2012 Feb;28(2):130-3. doi: 10.1051/medsci/2012282004. Epub 2012 Feb 27. French. No abstract available.

PMID:
22377294
[PubMed - indexed for MEDLINE]
Free Article
14.

Splicing of a rare class of introns by the U12-dependent spliceosome.

Will CL, L├╝hrmann R.

Biol Chem. 2005 Aug;386(8):713-24. Review.

PMID:
16201866
[PubMed - indexed for MEDLINE]
15.
16.

Minor class splicing shapes the zebrafish transcriptome during development.

Markmiller S, Cloonan N, Lardelli RM, Doggett K, Keightley MC, Boglev Y, Trotter AJ, Ng AY, Wilkins SJ, Verkade H, Ober EA, Field HA, Grimmond SM, Lieschke GJ, Stainier DY, Heath JK.

Proc Natl Acad Sci U S A. 2014 Feb 25;111(8):3062-7. doi: 10.1073/pnas.1305536111. Epub 2014 Feb 10.

PMID:
24516132
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Conservation of functional features of U6atac and U12 snRNAs between vertebrates and higher plants.

Shukla GC, Padgett RA.

RNA. 1999 Apr;5(4):525-38.

PMID:
10199569
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Proximity of the U12 snRNA with both the 5' splice site and the branch point during early stages of spliceosome assembly.

Frilander MJ, Meng X.

Mol Cell Biol. 2005 Jun;25(12):4813-25.

PMID:
15923601
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I.

Abdel-Salam GM, Abdel-Hamid MS, Hassan NA, Issa MY, Effat L, Ismail S, Aglan MS, Zaki MS.

Am J Med Genet A. 2013 Aug;161A(8):1875-81. doi: 10.1002/ajmg.a.36009. Epub 2013 Jun 21.

PMID:
23794361
[PubMed - indexed for MEDLINE]
20.

Highly diverged U4 and U6 small nuclear RNAs required for splicing rare AT-AC introns.

Tarn WY, Steitz JA.

Science. 1996 Sep 27;273(5283):1824-32.

PMID:
8791582
[PubMed - indexed for MEDLINE]

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