214 related articles for article (PubMed ID: 30093551)
1. 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; 145(17):. PubMed ID: 30093551
[TBL] [Abstract][Full Text] [Related]
2. Trp53 ablation fails to prevent microcephaly in mouse pallium with impaired minor intron splicing.
White AK; Baumgartner M; Lee MF; Drake KD; Aquino GS; Kanadia RN
Development; 2021 Oct; 148(20):. PubMed ID: 34557915
[TBL] [Abstract][Full Text] [Related]
3. Loss of U11 small nuclear RNA in the developing mouse limb results in micromelia.
Drake KD; Lemoine C; Aquino GS; Vaeth AM; Kanadia RN
Development; 2020 Aug; 147(21):. PubMed ID: 32665241
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 27591150
[TBL] [Abstract][Full Text] [Related]
5. 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; 332(6026):238-40. PubMed ID: 21474760
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 31175170
[TBL] [Abstract][Full Text] [Related]
7. 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; 332(6026):240-3. PubMed ID: 21474761
[TBL] [Abstract][Full Text] [Related]
8. [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. PubMed ID: 22377294
[No Abstract] [Full Text] [Related]
9. 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. PubMed ID: 24865609
[TBL] [Abstract][Full Text] [Related]
10. Genetics. Minor splicing, disrupted.
Pessa HK; Frilander MJ
Science; 2011 Apr; 332(6026):184-5. PubMed ID: 21474744
[No Abstract] [Full Text] [Related]
11. Immunodeficiency in a patient with microcephalic osteodysplastic primordial dwarfism type I as compared to Roifman syndrome.
Hagiwara H; Matsumoto H; Uematsu K; Zaha K; Sekinaka Y; Miyake N; Matsumoto N; Nonoyama S
Brain Dev; 2021 Feb; 43(2):337-342. PubMed ID: 33059947
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 21815888
[TBL] [Abstract][Full Text] [Related]
13. 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; 6():8718. PubMed ID: 26522830
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 22581640
[TBL] [Abstract][Full Text] [Related]
15. 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; 12(1):3. PubMed ID: 29370840
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 27040866
[TBL] [Abstract][Full Text] [Related]
17. Minor intron splicing revisited: identification of new minor intron-containing genes and tissue-dependent retention and alternative splicing of minor introns.
Olthof AM; Hyatt KC; Kanadia RN
BMC Genomics; 2019 Aug; 20(1):686. PubMed ID: 31470809
[TBL] [Abstract][Full Text] [Related]
18. A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I.
Kilic E; Yigit G; Utine GE; Wollnik B; Mihci E; Nur BG; Boduroglu K
Am J Med Genet A; 2015 Apr; 167A(4):919-21. PubMed ID: 25735804
[No Abstract] [Full Text] [Related]
19. Long-term survival in microcephalic osteodysplastic primordial dwarfism type I: Evaluation of an 18-year-old male with g.55G>A homozygous mutation in RNU4ATAC.
Abdel-Salam GM; Emam BA; Khalil YM; Abdel-Hamid MS
Am J Med Genet A; 2016 Jan; 170A(1):277-82. PubMed ID: 26419500
[No Abstract] [Full Text] [Related]
20. Regulation of gene expression through inefficient splicing of U12-type introns.
Niemelä EH; Frilander MJ
RNA Biol; 2014; 11(11):1325-9. PubMed ID: 25692230
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
