Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report

Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93

(2018) Martin Bezdíčka et al.   PEDIATRIC NEPHROLOGY

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

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

Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management

(2017) Agnieszka Bierzynska et al.   KIDNEY INTERNATIONAL

Congenital Heart Disease Genetics Uncovers Context-Dependent Organization and Function of Nucleoporins at Cilia

(2016) Florencia del Viso et al.   DEVELOPMENTAL CELL

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

(2016) Daniela A Braun et al.   NATURE GENETICS

Specific Nucleoporin Requirement for Smad Nuclear Translocation

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

Long-term outcome of idiopathic steroid-resistant nephrotic syndrome: a multicenter study

(2009) Djalila Mekahli et al.   PEDIATRIC NEPHROLOGY

Monocilia in the embryonic mouse heart suggest a direct role for cilia in cardiac morphogenesis

(2008) Jennifer Slough et al.   DEVELOPMENTAL DYNAMICS