Associated Papers
From the sideline: Tissue-specific nucleoporin function in health and disease, an update.
Jühlen R et al.
Febs Letters, 2023
Meiotic Recombination Defects and Premature Ovarian Insufficiency.
Huang C et al.
Frontiers in Cell and Developmental Biology, 2021
Efficient In Vivo Introduction of Point Mutations Using ssODN and a Co-CRISPR Approach.
Levi T et al.
Biological Procedures Online, 2020
Functional study of a novel missense single-nucleotide variant of NUP107 in two daughters of Mexican origin with premature ovarian insufficiency.
Ren Y et al.
Molecular Genetics & Genomic Medicine, 2018
NUP107 mutations in children with steroid-resistant nephrotic syndrome.
Park E et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2017
Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome.
Rosti RO et al.
Journal of Medical Genetics, 2017
A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis.
Weinberg-Shukron A et al.
The Journal of Clinical Investigation, 2015
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