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Items: 16

Select item 90242031.

Roifman syndrome: a description of further immunological and radiological features

Danielle Clifford, Fiachra Moloney, Timothy Ronan Leahy, Deirdre M Murray

BMJ Case Rep. 2022; 15(4): e249109. Published online 2022 Apr 21. doi: 10.1136/bcr-2022-249109

PMCID:: PMC9024203

Abstract Article PDF–1.1M

Select item 62306492.

Extending the critical regions for mutations in the non‐coding gene RNU4ATAC in another patient with Roifman Syndrome

Ariane Hallermayr, Janine Graf, Udo Koehler, Andreas Laner, Brigitte Schönfeld, Anna Benet‐Pagès, Elke Holinski‐Feder

Clin Case Rep. 2018 Nov; 6(11): 2224–2228. Published online 2018 Oct 11. doi: 10.1002/ccr3.1830

PMCID:: PMC6230649

Abstract Article PDF–246K

Select item 56779503.

A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome

Yael Dinur Schejter, Adi Ovadia, Roumiana Alexandrova, Bhooma Thiruvahindrapuram, Sergio L. Pereira, David E. Manson, Ajoy Vincent, Daniele Merico, Chaim M. Roifman

NPJ Genom Med. 2017; 2: 23. Published online 2017 Jul 10. doi: 10.1038/s41525-017-0024-5

PMCID:: PMC5677950

Abstract Article PDF–2.6M

Select item 46676434.

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

Daniele Merico, Maian Roifman, Ulrich Braunschweig, Ryan K. C. Yuen, Roumiana Alexandrova, Andrea Bates, Brenda Reid, Thomas Nalpathamkalam, Zhuozhi Wang, Bhooma Thiruvahindrapuram, Paul Gray, Alyson Kakakios, Jane Peake, Stephanie Hogarth, David Manson, Raymond Buncic, Sergio L. Pereira, Jo-Anne Herbrick, Benjamin J. Blencowe, Chaim M. Roifman, Stephen W. Scherer

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

PMCID:: PMC4667643

Abstract Article PDF–819K

Select item 80346515.

Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor introns

Anouk M Olthof, Alisa K White, Stephen Mieruszynski, Karen Doggett, Madisen F Lee, Almahdi Chakroun, Alice K Abdel Aleem, Justine Rousseau, Cinzia Magnani, Chaim M Roifman, Philippe M Campeau, Joan K Heath, Rahul N Kanadia

Nucleic Acids Res. 2021 Apr 6; 49(6): 3524–3545. Published online 2021 Feb 28. doi: 10.1093/nar/gkab118

PMCID:: PMC8034651

Abstract Article PDF–7.2M

Select item 74380046.

Loss of U11 small nuclear RNA in the developing mouse limb results in micromelia

Kyle D. Drake, Christopher Lemoine, Gabriela S. Aquino, Anna M. Vaeth, Rahul N. Kanadia

Development. 2020 Nov 1; 147(21): dev190967. Published online 2020 Aug 14. doi: 10.1242/dev.190967

PMCID:: PMC7438004

Abstract Article

Select item 67742487.

The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome

Laura S. Farach, Mary E. Little, Angela L. Duker, Clare V. Logan, Andrew Jackson, Jaqueline T. Hecht, Michael Bober

Am J Med Genet A. Author manuscript; available in PMC 2019 Oct 2.

Published in final edited form as: Am J Med Genet A. 2018 Feb; 176(2): 465–469. Published online 2017 Dec 19. doi: 10.1002/ajmg.a.38581

PMCID:: PMC6774248

Abstract Article PDF–348K

Select item 54738768.

Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes

Delfien J. Bogaert, Melissa Dullaers, Hye Sun Kuehn, Bart P. Leroy, Julie E. Niemela, Hans De Wilde, Sarah De Schryver, Marieke De Bruyne, Frauke Coppieters, Bart N. Lambrecht, Frans De Baets, Sergio D. Rosenzweig, Elfride De Baere, Filomeen Haerynck

Sci Rep. 2017; 7: 3702. Published online 2017 Jun 16. doi: 10.1038/s41598-017-02434-4

PMCID:: PMC5473876

Abstract Article PDF–3.3M

Select item 99928389.

Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish

Deepak Khatri, Audrey Putoux, Audric Cologne, Sophie Kaltenbach, Alicia Besson, Eloïse Bertiaux, Justine Guguin, Adèle Fendler, Marie A. Dupont, Clara Benoit-Pilven, Leila Qebibo, Samira Ahmed-Elie, Séverine Audebert-Bellanger, Pierre Blanc, Thomas Rambaud, Martin Castelle, Gaëlle Cornen, Sarah Grotto, Agnès Guët, Laurent Guibaud, Caroline Michot, Sylvie Odent, Lyse Ruaud, Elise Sacaze, Virginie Hamel, Rémy Bordonné, Anne-Louise Leutenegger, Patrick Edery, Lydie Burglen, Tania Attié-Bitach, Sylvie Mazoyer, Marion Delous

Proc Natl Acad Sci U S A. 2023 Feb 28; 120(9): e2102569120. Published online 2023 Feb 21. doi: 10.1073/pnas.2102569120

PMCID:: PMC9992838

Abstract Article PDF–3.2M

Select item 680051010.

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

Audric Cologne, Clara Benoit-Pilven, Alicia Besson, Audrey Putoux, Amandine Campan-Fournier, Michael B. Bober, Christine E.M. De Die-Smulders, Aimee D.C. Paulussen, Lucile Pinson, Annick Toutain, Chaim M. Roifman, Anne-Louise Leutenegger, Sylvie Mazoyer, Patrick Edery, Vincent Lacroix

RNA. 2019 Sep; 25(9): 1130–1149. doi: 10.1261/rna.071423.119