Expanding the clinical and molecular spectrum of the CWC27-related spliceosomopathy-Reference-Cited by-同舟云学术

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Expanding the clinical and molecular spectrum of the CWC27-related spliceosomopathy

Published:2019-09-03 Issue:11 Volume:64 Page:1133-1136
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Brea-Fernández Alejandro J.,Cabanas Paloma,Dacruz-Álvarez David,Caamaño Pilar,Limeres Jacobo,Loidi Lourdes

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s10038-019-0664-7.pdf

Reference9 articles.

1. Ulrich A, Wahl MC. Structure and evolution of the spliceosomal peptidyl-prolyl cis-trans isomerase Cwc27. Acta Crystallogr D Biol Crystallogr. 2014;D70:3110–23. https://doi.org/10.1107/S1399004714021695 .

2. Rajiv C, Davis TL. Structural and functional insights into human nuclear cyclophilins. Biomolecules. 2018;8:E161. https://doi.org/10.3390/biom8040161 .

3. Davis TL, Walker JR, Campagna-Slater V, Finerty PJ, Paramanathan R, Bernstein G, et al. Structural and biochemical characterization of the human cyclophilin family of peptidyl-prolyl isomerases. PLoS Biol. 2010;8:e1000439. https://doi.org/10.1371/journal.pbio.1000439 .

4. Xu M, Xie YA, Abouzeid H, Gordon CT, Fiorentino A, Sun Z, et al. Mutations in the spliceosome component CWC27 cause retinal degeneration with or without additional developmental anomalies. Am J Hum Genet. 2017;100:592–604. https://doi.org/10.1016/j.ajhg.2017.02.008 .

5. Phillips CI, Wynne-Davies R, Stokoe NL, Newton M. Retinitis pigmentosa, metaphyseal chondrodysplasia, and brachydactyly: an affected brother and sister. J Med Genet. 1981;18:46–9.

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