Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome

(2018) Daniela A. Braun et al.   JOURNAL OF CLINICAL INVESTIGATION

Homozygous splicing mutation in NUP13 3 causes Galloway-Mowat syndrome

(2018) Atsushi Fujita et al.   ANNALS OF NEUROLOGY

A self-inhibitory interaction within Nup155 and membrane binding are required for nuclear pore complex formation

(2017) Paola De Magistris et al.   JOURNAL OF CELL SCIENCE

Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome

(2017) Rasim Ozgur Rosti et al.   JOURNAL OF MEDICAL GENETICS

The functional versatility of the nuclear pore complex proteins

(2017) Mohammed Hezwani et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy

(2016) Antonella Sferra et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Nucleoporin genes in human diseases

(2016) Valeria Nofrini et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome

(2016) Daniela A Braun et al.   NATURE GENETICS

The nuclear pore complex: understanding its function through structural insight

(2016) Martin Beck et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Molecular architecture of the inner ring scaffold of the human nuclear pore complex

(2016) J. Kosinski et al.   SCIENCE

Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome

(2015) Noriko Miyake et al.   AMERICAN JOURNAL OF HUMAN GENETICS

In situ structural analysis of the human nuclear pore complex

(2015) Alexander von Appen et al.   NATURE

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

(2015) Fanny Kortüm et al.   NATURE GENETICS

Crystal structure of the metazoan Nup62bulletNup58bulletNup54 nucleoporin complex

(2015) H. Chug et al.   SCIENCE

Architecture of the fungal nuclear pore inner ring complex

(2015) T. Stuwe et al.   SCIENCE

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

(2015) C. Dong et al.   HUMAN MOLECULAR GENETICS

The diverse roles of the Nup93/Nic96 complex proteins – structural scaffolds of the nuclear pore complex with additional cellular functions

(2014) Benjamin Vollmer et al.   BIOLOGICAL CHEMISTRY

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations

(2013) Xiaoming Liu et al.   HUMAN MUTATION

Dimerization and direct membrane interaction of Nup53 contribute to nuclear pore complex assembly

(2012) Benjamin Vollmer et al.   EMBO JOURNAL

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Phosphorylation of Nup98 by Multiple Kinases Is Crucial for NPC Disassembly during Mitotic Entry

(2011) Eva Laurell et al.   CELL

The C-terminal domain of Nup93 is essential for assembly of the structural backbone of nuclear pore complexes

(2011) Ruchika Sachdev et al.   MOLECULAR BIOLOGY OF THE CELL

SIDEpro: A novel machine learning approach for the fast and accurate prediction of side-chain conformations

(2011) Ken Nagata et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Pom121 links two essential subcomplexes of the nuclear pore complex core to the membrane

(2010) Jana M. Mitchell et al.   JOURNAL OF CELL BIOLOGY

The nucleoporin Nup188 controls passage of membrane proteins across the nuclear pore complex

(2010) Gandhi Theerthagiri et al.   JOURNAL OF CELL BIOLOGY

Comparative Genomic Evidence for a Complete Nuclear Pore Complex in the Last Eukaryotic Common Ancestor

(2010) Nadja Neumann et al.   PLoS One

The Nuclear Pore Complex and Nuclear Transport

(2010) S. R. Wente et al.   Cold Spring Harbor Perspectives in Biology

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Mutation Detection by Real-Time PCR: A Simple, Robust and Highly Selective Method

(2009) John Morlan et al.   PLoS One

Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe

(2008) Katrin Koehler et al.   EUROPEAN JOURNAL OF HUMAN GENETICS