Exploring the genetic basis of early-onset chronic kidney disease

A Vivante, F Hildebrandt - Nature Reviews Nephrology, 2016 - nature.com
The primary causes of chronic kidney disease (CKD) in children differ from those of CKD in
adults. In the USA the most common diagnostic groups of renal disease that manifest before …

Genetic testing in steroid-resistant nephrotic syndrome: when and how?

S Lovric, S Ashraf, W Tan… - Nephrology Dialysis …, 2016 - academic.oup.com
Steroid-resistant nephrotic syndrome (SRNS) represents the second most frequent cause of
chronic kidney disease in the first three decades of life. It manifests histologically as focal …

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

DA Braun, J Rao, G Mollet, D Schapiro, MC Daugeron… - Nature …, 2017 - nature.com
Galloway–Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by
the combination of early-onset nephrotic syndrome (SRNS) and microcephaly with brain …

Development and developmental disorders of the human cerebellum

HJ ten Donkelaar, WFA den Dunnen… - … disorders of the human …, 2023 - Springer
The cerebellum is one of the best studied parts of the brain. The cerebellar cortex is
composed of four main types of neurons: granule cells, Purkinje cells, and two types of …

WASP family proteins: Molecular mechanisms and implications in human disease

DA Kramer, HK Piper, B Chen - European journal of cell biology, 2022 - Elsevier
Abstract Proteins of the Wiskott-Aldrich syndrome protein (WASP) family play a central role
in regulating actin cytoskeletal dynamics in a wide range of cellular processes. Genetic …

[HTML][HTML] Branching out in different directions: Emerging cellular functions for the Arp2/3 complex and WASP-family actin nucleation factors

KG Campellone, NM Lebek, VL King - European journal of cell biology, 2023 - Elsevier
The actin cytoskeleton impacts practically every function of a eukaryotic cell. Historically, the
best-characterized cytoskeletal activities are in cell morphogenesis, motility, and division …

Mutations in WDR4 as a new cause of Galloway–Mowat syndrome

DA Braun, S Shril, A Sinha, R Schneider… - American journal of …, 2018 - Wiley Online Library
Galloway‐Mowat syndrome (GAMOS) is a phenotypically heterogeneous disorder
characterized by neurodevelopmental defects combined with renal‐glomerular disease …

Testicular cancer: Genes, environment, hormones

L De Toni, I Šabovic, I Cosci, M Ghezzi… - Frontiers in …, 2019 - frontiersin.org
Testicular cancer (TC) represents one of the most peculiar clinical challenges at present. In
fact, currently treatments are so effective ensuring a 5 years disease-free survival rate in …

Homozygous splicing mutation in NUP133 causes Galloway–Mowat syndrome

A Fujita, H Tsukaguchi, E Koshimizu… - Annals of …, 2018 - Wiley Online Library
Objective Galloway–Mowat syndrome (GAMOS) is a neural and renal disorder,
characterized by microcephaly, brain anomalies, and early onset nephrotic syndrome …