<b><i>NUP188</i></b> Biallelic Loss of Function May Underlie a New Syndrome: Nucleoporin 188 Insufficiency Syndrome?-Reference-Cited by-同舟云学术

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NUP188 Biallelic Loss of Function May Underlie a New Syndrome: Nucleoporin 188 Insufficiency Syndrome?

Published:2019 Issue:6 Volume:10 Page:313-319
ISSN:1661-8769
Container-title:Molecular Syndromology
language:en
Short-container-title:Mol Syndromol

Author:

Sandestig Anna,Engström Karolina,Pepler Alexander,Danielsson Ingela,Odelberg-Johnsson Per,Biskup Saskia,Holz Anja,Stefanova Margarita

Publisher

S. Karger AG

Subject

Genetics(clinical),Genetics

Reference13 articles.

1. Andersen KR, Onischenko E, Tang JH, Kumar P, Chen JZ, et al: Scaffold nucleoporins Nup188 and Nup192 share structural and functional properties with nuclear transport receptors. Elife 2:e00745 (2013).

2. Bonnin E, Cabochette P, Filosa A, Jühlen R, Komatsuzaki S, et al: Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence. PLoS Genet 14:e1007845 (2018).

3. Braun DA, Lovric S, Schapiro D, Schneider R, Marquez J, et al: Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. J Clin Invest 128:4313-4328 (2018).

4. Del Viso F, Huang F, Myers J, Chalfant M, Zhang Y, et al: Congenital heart disease genetics uncovers context-dependent organization and function of nucleoporins at cilia. Dev Cell 38:478-492 (2016).

5. Fakhro KA, Choi M, Ware SM, Belmont JW, Towbin JA, et al.: Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning. Proc Natl Acad Sci USA 108:2915-2920 (2011).

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