Motile and non‐motile cilia in human pathology: from function to phenotypes

HM Mitchison, EM Valente - The Journal of pathology, 2017 - Wiley Online Library
Ciliopathies are inherited human disorders caused by both motile and non‐motile cilia
dysfunction that form an important and rapidly expanding disease category. Ciliopathies are …

Wnt signaling in kidney development and disease

Y Wang, CJ Zhou, Y Liu - Progress in molecular biology and translational …, 2018 - Elsevier
Wnt signal cascade is an evolutionarily conserved, developmental pathway that regulates
embryogenesis, injury repair, and pathogenesis of human diseases. It is well established …

Many genes—one disease? Genetics of Nephronophthisis (NPHP) and NPHP-associated disorders

S Srivastava, E Molinari, S Raman, JA Sayer - Frontiers in pediatrics, 2018 - frontiersin.org
Nephronophthisis (NPHP) is a renal ciliopathy and an autosomal recessive cause of cystic
kidney disease, renal fibrosis, and end-stage renal failure, affecting children and young …

Nephronophthisis: a pathological and genetic perspective

MTF Wolf, SM Bonsib, CP Larsen, F Hildebrandt - Pediatric Nephrology, 2024 - Springer
Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and is one of the
most frequent genetic causes for kidney failure (KF) in children and adolescents. Over 20 …

Mechanoregulation of vascular endothelial growth factor receptor 2 in angiogenesis

B Miller, MK Sewell-Loftin - Frontiers in Cardiovascular Medicine, 2022 - frontiersin.org
The endothelial cells that compose the vascular system in the body display a wide range of
mechanotransductive behaviors and responses to biomechanical stimuli, which act in …

The hallmarks of cancer: relevance to the pathogenesis of polycystic kidney disease

T Seeger-Nukpezah, DM Geynisman… - Nature Reviews …, 2015 - nature.com
Autosomal dominant polycystic kidney disease (ADPKD) is a progressive inherited disorder
in which renal tissue is gradually replaced with fluid-filled cysts, giving rise to chronic kidney …

Podocyte glucocorticoid receptors are essential for glomerular endothelial cell homeostasis in diabetes mellitus

SP Srivastava, H Zhou, O Setia, A Dardik… - Journal of the …, 2021 - Am Heart Assoc
Background Proteinuria and glomerular segmental fibrosis are inevitable complications of
diabetic nephropathy though their mechanisms are poorly understood. Understanding the …

Linking cell polarity to cortical development and malformations

J Hakanen, N Ruiz-Reig, F Tissir - Frontiers in cellular neuroscience, 2019 - frontiersin.org
Cell polarity refers to the asymmetric distribution of signaling molecules, cellular organelles,
and cytoskeleton in a cell. Neural progenitors and neurons are highly polarized cells in …

ALFY-controlled DVL3 autophagy regulates Wnt signaling, determining human brain size

R Kadir, T Harel, B Markus, Y Perez, A Bakhrat… - PLoS …, 2016 - journals.plos.org
Primary microcephaly is a congenital neurodevelopmental disorder of reduced head
circumference and brain volume, with fewer neurons in the cortex of the developing brain …

The primary cilium: guardian of organ development and homeostasis

AM Fry, MJ Leaper, R Bayliss - Organogenesis, 2014 - Taylor & Francis
The primary cilium is an antenna-like organelle that plays a vital role in organ generation
and maintenance. It protrudes from the cell surface where it receives signals from the …