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

Defects of CRB2 Cause Steroid-Resistant Nephrotic Syndrome

(2015) Lwaki Ebarasi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

KANK deficiency leads to podocyte dysfunction and nephrotic syndrome

(2015) Heon Yung Gee et al.   JOURNAL OF CLINICAL INVESTIGATION

Response to cyclosporine in steroid-resistant nephrotic syndrome: discontinuation is possible

(2015) Ilka Klaassen et al.   PEDIATRIC NEPHROLOGY

Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome

(2014) Heon Yung Gee et al.   AMERICAN JOURNAL OF HUMAN 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 Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome

(2014) C. E. Sadowski et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6

(2013) Maimoona A. Zariwala et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

(2013) Jan Halbritter et al.   HUMAN GENETICS

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

(2013) Heon Yung Gee et al.   JOURNAL OF CLINICAL INVESTIGATION

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

(2013) Shazia Ashraf et al.   JOURNAL OF CLINICAL INVESTIGATION

Functional Architecture of the Nuclear Pore Complex

(2012) Einat Grossman et al.   Annual Review of Biophysics

High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing

(2012) Jan Halbritter et al.   JOURNAL OF MEDICAL GENETICS

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

(2012) Lynn M. Boyden et al.   NATURE

Insight into Structure and Assembly of the Nuclear Pore Complex by Utilizing the Genome of a Eukaryotic Thermophile

(2011) Stefan Amlacher et al.   CELL

Disruption of Smad4 impairs TGF-β/Smad3 and Smad7 transcriptional regulation during renal inflammation and fibrosis in vivo and in vitro

(2011) Xiao-Ming Meng et al.   KIDNEY INTERNATIONAL

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

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

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

Direct visualization of Smad1/5/8-mediated transcriptional activity identifies podocytes and collecting ducts as major targets of BMP signalling in healthy and diseased kidneys

(2010) Jan Willem Leeuwis et al.   JOURNAL OF PATHOLOGY

Specific Nucleoporin Requirement for Smad Nuclear Translocation

(2010) X. Chen et al.   MOLECULAR AND CELLULAR BIOLOGY

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

(2010) Edgar A Otto et al.   NATURE GENETICS

The Nuclear Pore Complex and Nuclear Transport

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

Genetics of nephrotic syndrome: connecting molecular genetics to podocyte physiology

(2009) E. Machuca et al.   HUMAN MOLECULAR GENETICS

Specific podocin mutations determine age of onset of nephrotic syndrome all the way into adult life

(2009) Friedhelm Hildebrandt et al.   KIDNEY INTERNATIONAL

A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations

(2009) Friedhelm Hildebrandt et al.   PLoS Genetics

Mutation in Nuclear Pore Component NUP155 Leads to Atrial Fibrillation and Early Sudden Cardiac Death

(2008) Xianqin Zhang et al.   CELL

Preferential Utilization of Imp7/8 in Nuclear Import of Smads

(2008) Xiaohao Yao et al.   JOURNAL OF BIOLOGICAL CHEMISTRY