Integrin-mediated mechanotransduction

Z Sun, SS Guo, R Fässler - Journal of Cell Biology, 2016 - rupress.org
Cells can detect and react to the biophysical properties of the extracellular environment
through integrin-based adhesion sites and adapt to the extracellular milieu in a process …

Cellular and molecular mechanisms of kidney fibrosis

S Djudjaj, P Boor - Molecular aspects of medicine, 2019 - Elsevier
Renal fibrosis is the final pathological process common to any ongoing, chronic kidney
injury or maladaptive repair. It is considered as the underlying pathological process of …

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 …

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

A Bierzynska, HJ McCarthy, K Soderquest, ES Sen… - Kidney international, 2017 - Elsevier
Steroid Resistant Nephrotic Syndrome (SRNS) in children and young adults has differing
etiologies with monogenic disease accounting for 2.9–30% in selected series. Using whole …

A mechano-signalling network linking microtubules, myosin IIA filaments and integrin-based adhesions

NBM Rafiq, Y Nishimura, SV Plotnikov, V Thiagarajan… - Nature materials, 2019 - nature.com
The interrelationship between microtubules and the actin cytoskeleton in
mechanoregulation of integrin-mediated adhesions is poorly understood. Here, we show …

Whole exome sequencing of patients with steroid-resistant nephrotic syndrome

JK Warejko, W Tan, A Daga, D Schapiro… - Clinical Journal of the …, 2018 - journals.lww.com
Results In 74 of 300 families (25%), we identified a causative mutation in one of 20 genes
known to cause steroid-resistant nephrotic syndrome. In 11 families (3.7%), we detected a …

[HTML][HTML] Regulation of the actin cytoskeleton in podocytes

J Blaine, J Dylewski - Cells, 2020 - mdpi.com
Podocytes are an integral part of the glomerular filtration barrier, a structure that prevents
filtration of large proteins and macromolecules into the urine. Podocyte function is …

[HTML][HTML] Cortical organoids model early brain development disrupted by 16p11. 2 copy number variants in autism

J Urresti, P Zhang, P Moran-Losada, NK Yu… - Molecular …, 2021 - nature.com
Reciprocal deletion and duplication of the 16p11. 2 region is the most common copy number
variation (CNV) associated with autism spectrum disorders. We generated cortical organoids …

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 …

The genetic basis of cerebral palsy

MC Fahey, AH Maclennan… - … Medicine & Child …, 2017 - Wiley Online Library
Although prematurity and hypoxic–ischaemic injury are well‐recognized contributors to the
pathogenesis of cerebral palsy (CP), as many as one‐third of children with CP may lack …