Literature DB >> 28074499

Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants.

F Santos-Simarro1,2, E Vallespin2,3, A Del Pozo2,4, K Ibañez2,4, J C Silla2,4, L Fernandez2,3, J Nevado2,3, H González-Pecellín2,3, V E F Montaño2,3, R Martin2,3, L I Alba Valdivia3, S García-Miñaúr1,2, P Lapunzina1,2, M Palomares-Bralo2,3.   

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Year:  2017        PMID： 28074499     DOI： 10.1111/cge.12965

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  5 in total

1.  PUF60-activated exons uncover altered 3' splice-site selection by germline missense mutations in a single RRM.

Authors:  Jana Královicová; Ivana Ševcíková; Eva Stejskalová; Mina Obuca; Michael Hiller; David Stanek; Igor Vorechovský
Journal:  Nucleic Acids Res       Date:  2018-07-06       Impact factor: 16.971

2.  Unraveling the mechanism of recognition of the 3' splice site of the adenovirus major late promoter intron by the alternative splicing factor PUF60.

Authors:  Hsin-Hao T Hsiao; Gregg V Crichlow; James W Murphy; Ewa J Folta-Stogniew; Elias J Lolis; Demetrios T Braddock
Journal:  PLoS One       Date:  2020-11-30       Impact factor: 3.240

3.  Early loss of Scribble affects cortical development, interhemispheric connectivity and psychomotor activity.

Authors:  Jerome Ezan; Maité M Moreau; Tamrat M Mamo; Miki Shimbo; Maureen Decroo; Melanie Richter; Ronan Peyroutou; Rivka Rachel; Fadel Tissir; Froylan Calderon de Anda; Nathalie Sans; Mireille Montcouquiol
Journal:  Sci Rep       Date:  2021-04-27       Impact factor: 4.379

4.  Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.

Authors:  Jin J Zhao; Jonatan Halvardson; Cecilia S Zander; Ammar Zaghlool; Patrik Georgii-Hemming; Else Månsson; Göran Brandberg; Helena E Sävmarker; Carina Frykholm; Ekaterina Kuchinskaya; Ann-Charlotte Thuresson; Lars Feuk
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2017-10-09       Impact factor: 3.568

5.  Role of PUF60 gene in Verheij syndrome: a case report of the first Chinese Han patient with a de novo pathogenic variant and review of the literature.

Authors:  Qiong Xu; Chun-Yang Li; Yi Wang; Hui-Ping Li; Bing-Bing Wu; Yong-Hui Jiang; Xiu Xu
Journal:  BMC Med Genomics       Date:  2018-10-23       Impact factor: 3.063
  5 in total

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