The cell biology of renal filtration
RP Scott, SE Quaggin - Journal of cell biology, 2015 - rupress.org
The function of the kidney, filtering blood and concentrating metabolic waste into urine, takes
place in an intricate and functionally elegant structure called the renal glomerulus. Normal …
place in an intricate and functionally elegant structure called the renal glomerulus. Normal …
The genetic basis of hydrocephalus
M Kousi, N Katsanis - Annual review of neuroscience, 2016 - annualreviews.org
Studies of syndromic hydrocephalus have led to the identification of> 100 causative genes.
Even though this work has illuminated numerous pathways associated with hydrocephalus …
Even though this work has illuminated numerous pathways associated with hydrocephalus …
Clinical application of whole-exome sequencing across clinical indications
Purpose: We report the diagnostic yield of whole-exome sequencing (WES) in 3,040
consecutive cases at a single clinical laboratory. Methods: WES was performed for many …
consecutive cases at a single clinical laboratory. Methods: WES was performed for many …
De novo mutation in genes regulating neural stem cell fate in human congenital hydrocephalus
Congenital hydrocephalus (CH), featuring markedly enlarged brain ventricles, is thought to
arise from failed cerebrospinal fluid (CSF) homeostasis and is treated with lifelong surgical …
arise from failed cerebrospinal fluid (CSF) homeostasis and is treated with lifelong surgical …
Human iPSC-derived retinas recapitulate the fetal CRB1 CRB2 complex formation and demonstrate that photoreceptors and Müller glia are targets of AAV5
Human retinal organoids from induced pluripotent stem cells (hiPSCs) can be used to
confirm the localization of proteins in retinal cell types and to test transduction and …
confirm the localization of proteins in retinal cell types and to test transduction and …
A neural stem cell paradigm of pediatric hydrocephalus
Pediatric hydrocephalus, the leading reason for brain surgery in children, is characterized by
enlargement of the cerebral ventricles classically attributed to cerebrospinal fluid (CSF) …
enlargement of the cerebral ventricles classically attributed to cerebrospinal fluid (CSF) …
[HTML][HTML] Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development
CL Yates, KG Monaghan, D Copenheaver… - Genetics in …, 2017 - Elsevier
Purpose The aim of this study was to determine the diagnostic yield of whole-exome
sequencing (WES) in fetuses with ultrasound anomalies that resulted in fetal demise or …
sequencing (WES) in fetuses with ultrasound anomalies that resulted in fetal demise or …
TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus
Congenital hydrocephalus, characterized by cerebral ventriculomegaly, is one of the most
common reasons for paediatric brain surgery. Recent studies have implicated lin-41 …
common reasons for paediatric brain surgery. Recent studies have implicated lin-41 …
Crumbs2 promotes cell ingression during the epithelial-to-mesenchymal transition at gastrulation
N Ramkumar, T Omelchenko, NF Silva-Gagliardi… - Nature Cell …, 2016 - nature.com
During gastrulation of the mouse embryo, individual cells ingress in an apparently stochastic
pattern during the epithelial-to-mesenchymal transition (EMT). Here we define a critical role …
pattern during the epithelial-to-mesenchymal transition (EMT). Here we define a critical role …
[HTML][HTML] Recent advances in prenatal genetic screening and testing
IB Van den Veyver - F1000Research, 2016 - ncbi.nlm.nih.gov
The introduction of new technologies has dramatically changed the current practice of
prenatal screening and testing for genetic abnormalities in the fetus. Expanded carrier …
prenatal screening and testing for genetic abnormalities in the fetus. Expanded carrier …