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Mechanisms, regulation and functions of the unfolded protein response
C Hetz, K Zhang, RJ Kaufman - Nature reviews Molecular cell biology, 2020 - nature.com
Cellular stress induced by the abnormal accumulation of unfolded or misfolded proteins at
the endoplasmic reticulum (ER) is emerging as a possible driver of human diseases …
the endoplasmic reticulum (ER) is emerging as a possible driver of human diseases …
Tissue mechanics regulate brain development, homeostasis and disease
All cells sense and integrate mechanical and biochemical cues from their environment to
orchestrate organismal development and maintain tissue homeostasis …
orchestrate organismal development and maintain tissue homeostasis …
De novo mutations in epileptic encephalopathies.
AS Allen, SF Berkovic, P Cossette, N Delanty… - …, 2013 - search.ebscohost.com
Epileptic encephalopathies are a devastating group of severe childhood epilepsy disorders
for which the cause is often unknown. Here we report a screen for de novo mutations in …
for which the cause is often unknown. Here we report a screen for de novo mutations in …
Эпилепсия у детей и взрослых женщин и мужчин
ВА Карлов - 2019 - elibrary.ru
В руководстве представлены результаты 60-летней работы автора в области детской
и взрослой неврологии и эпилептологии. Впервые эпилептология представлена в …
и взрослой неврологии и эпилептологии. Впервые эпилептология представлена в …
[HTML][HTML] Cell-type-specific alternative splicing governs cell fate in the develo** cerebral cortex
Alternative splicing is prevalent in the mammalian brain. To interrogate the functional role of
alternative splicing in neural development, we analyzed purified neural progenitor cells …
alternative splicing in neural development, we analyzed purified neural progenitor cells …
[HTML][HTML] Piezo1 in smooth muscle cells is involved in hypertension-dependent arterial remodeling
The mechanically activated non-selective cation channel Piezo1 is a determinant of vascular
architecture during early development. Piezo1-deficient embryos die at midgestation with …
architecture during early development. Piezo1-deficient embryos die at midgestation with …
A developmental and genetic classification for malformations of cortical development: update 2012
AJ Barkovich, R Guerrini, RI Kuzniecky, GD Jackson… - Brain, 2012 - academic.oup.com
Malformations of cerebral cortical development include a wide range of developmental
disorders that are common causes of neurodevelopmental delay and epilepsy. In addition …
disorders that are common causes of neurodevelopmental delay and epilepsy. In addition …
Cerebral cortex expansion and folding: what have we learned?
V Fernández, C Llinares‐Benadero, V Borrell - The EMBO journal, 2016 - embopress.org
One of the most prominent features of the human brain is the fabulous size of the cerebral
cortex and its intricate folding. Cortical folding takes place during embryonic development …
cortex and its intricate folding. Cortical folding takes place during embryonic development …
Doublecortin is a microtubule-associated protein and is expressed widely by migrating neurons
JG Gleeson, PT Lin, LA Flanagan, CA Walsh - Neuron, 1999 - cell.com
Doublecortin (DCX) is required for normal migration of neurons into the cerebral cortex,
since mutations in the human gene cause a disruption of cortical neuronal migration. To …
since mutations in the human gene cause a disruption of cortical neuronal migration. To …
Malformations of cortical development: clinical features and genetic causes
R Guerrini, WB Dobyns - The Lancet Neurology, 2014 - thelancet.com
Malformations of cortical development are common causes of developmental delay and
epilepsy. Some patients have early, severe neurological impairment, but others have …
epilepsy. Some patients have early, severe neurological impairment, but others have …