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Items: 1 to 20 of 92

1.

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.

2.

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.

3.

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.

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
5.

New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients.

Cologne A, Benoit-Pilven C, Besson A, Putoux A, Campan-Fournier A, Bober MB, De Die-Smulders CEM, Paulussen ADC, Pinson L, Toutain A, Roifman CM, Leutenegger AL, Mazoyer S, Edery P, Lacroix V.

RNA. 2019 Sep;25(9):1130-1149. doi: 10.1261/rna.071423.119. Epub 2019 Jun 7.

6.

Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.

Putoux A, Alqahtani A, Pinson L, Paulussen AD, Michel J, Besson A, Mazoyer S, Borg I, Nampoothiri S, Vasiljevic A, Uwineza A, Boggio D, Champion F, de Die-Smulders CE, Gardeitchik T, van Putten WK, Perez MJ, Musizzano Y, Razavi F, Drunat S, Verloes A, Hennekam R, Guibaud L, Alix E, Sanlaville D, Lesca G, Edery P.

Clin Genet. 2016 Dec;90(6):550-555. doi: 10.1111/cge.12781. Epub 2016 Jun 2.

PMID:
27040866
7.

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.

8.

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
9.

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.

Merico D, Roifman M, Braunschweig U, Yuen RK, Alexandrova R, Bates A, Reid B, Nalpathamkalam T, Wang Z, Thiruvahindrapuram B, Gray P, Kakakios A, Peake J, Hogarth S, Manson D, Buncic R, Pereira SL, Herbrick JA, Blencowe BJ, Roifman CM, Scherer SW.

Nat Commun. 2015 Nov 2;6:8718. doi: 10.1038/ncomms9718.

10.

Minor spliceosome inactivation causes microcephaly, owing to cell cycle defects and death of self-amplifying radial glial cells.

Baumgartner M, Olthof AM, Aquino GS, Hyatt KC, Lemoine C, Drake K, Sturrock N, Nguyen N, Al Seesi S, Kanadia RN.

Development. 2018 Aug 28;145(17). pii: dev166322. doi: 10.1242/dev.166322.

11.

Structural basis for the dual U4 and U4atac snRNA-binding specificity of spliceosomal protein hPrp31.

Liu S, Ghalei H, Lührmann R, Wahl MC.

RNA. 2011 Sep;17(9):1655-63. doi: 10.1261/rna.2690611. Epub 2011 Jul 22.

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.

14.

Bone structure in two adult subjects with impaired minor spliceosome function resulting from RNU4ATAC mutations causing microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1).

Krøigård AB, Frost M, Larsen MJ, Ousager LB, Frederiksen AL.

Bone. 2016 Nov;92:145-149. doi: 10.1016/j.bone.2016.08.023. Epub 2016 Aug 31.

15.

U1-like snRNAs lacking complementarity to canonical 5' splice sites.

Kyriakopoulou C, Larsson P, Liu L, Schuster J, Söderbom F, Kirsebom LA, Virtanen A.

RNA. 2006 Sep;12(9):1603-11. Epub 2006 Jul 7.

16.

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.

17.

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
18.

Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly.

Wang Y, Wu X, Du L, Zheng J, Deng S, Bi X, Chen Q, Xie H, Férec C, Cooper DN, Luo Y, Fang Q, Chen JM.

Hum Genomics. 2018 Jan 25;12(1):3. doi: 10.1186/s40246-018-0135-9.

19.

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.

20.

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.

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