Homozygous splicing mutation in NUP13 3 causes Galloway-Mowat syndrome

A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report

(2018) Hye Sun Hyun et al.   BMC Medical Genetics

ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome

(2017) Satoko Miyatake et al.   JOURNAL OF HUMAN GENETICS

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

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

(2017) Daniela A Braun et al.   NATURE GENETICS

Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations

(2017) Jiro Kino et al.   BMC Nephrology

Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene

(2016) Rasim O. Rosti et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

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

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations ofWDR73

(2015) Robert N. Jinks et al.   BRAIN

WDR73Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

(2015) Julia Vodopiutz et al.   HUMAN MUTATION

A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis

(2015) Ariella Weinberg-Shukron et al.   JOURNAL OF CLINICAL INVESTIGATION

Nonsense mutation in theWDR73gene is associated with Galloway-Mowat syndrome

(2015) Tawfeg Ben-Omran et al.   JOURNAL OF MEDICAL GENETICS

Intranuclear dynamics of the Nup107-160 complex

(2015) Stéphanie Morchoisne-Bolhy et al.   MOLECULAR BIOLOGY OF THE CELL

Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

(2015) Anas M. Alazami et al.   Cell Reports

Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome

(2014) Estelle Colin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De novo SOX11 mutations cause Coffin–Siris syndrome

(2014) Yoshinori Tsurusaki et al.   Nature Communications

Developmental Localization of Nephrin in Zebrafish and Medaka Pronephric Glomerulus

(2013) Koichiro Ichimura et al.   JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY

Loss of Zygotic NUP107 Protein Causes Missing of Pharyngeal Skeleton and Other Tissue Defects with Impaired Nuclear Pore Function in Zebrafish Embryos

(2012) Xiaofeng Zheng et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Dissecting the NUP107 complex

(2012) Cristina González-Aguilera et al.   Nucleus

Neuropathological Homology in True Galloway-Mowat Syndrome

(2011) Julia Keith et al.   JOURNAL OF CHILD NEUROLOGY

Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes

(2011) Katherine R Smith et al.   GENOME BIOLOGY

HomozygosityMapper--an interactive approach to homozygosity mapping

(2009) D. Seelow et al.   NUCLEIC ACIDS RESEARCH

Nuclear Pore Composition Regulates Neural Stem/Progenitor Cell Differentiation in the Mouse Embryo

(2008) Floria Lupu et al.   DEVELOPMENTAL CELL

Structural and Functional Studies of Nup107/Nup133 Interaction and Its Implications for the Architecture of the Nuclear Pore Complex

(2008) Thomas Boehmer et al.   MOLECULAR CELL