Liquid-liquid phase separation in biology: mechanisms, physiological functions and human diseases
Cells are compartmentalized by numerous membrane-enclosed organelles and
membraneless compartments to ensure that a wide variety of cellular activities occur in a …
membraneless compartments to ensure that a wide variety of cellular activities occur in a …
Genetic studies in intellectual disability and related disorders
Genetic factors play a major part in intellectual disability (ID), but genetic studies have been
complicated for a long time by the extreme clinical and genetic heterogeneity. Recently …
complicated for a long time by the extreme clinical and genetic heterogeneity. Recently …
Dendritic spine plasticity: function and mechanisms
K Runge, C Cardoso, A De Chevigny - Frontiers in synaptic …, 2020 - frontiersin.org
Dendritic spines are small protrusions studding neuronal dendrites, first described in 1888
by Ramón y Cajal using his famous Golgi stainings. Around 50 years later the advance of …
by Ramón y Cajal using his famous Golgi stainings. Around 50 years later the advance of …
Autism genetics: opportunities and challenges for clinical translation
Genetic studies have revealed the involvement of hundreds of gene variants in autism. Their
risk effects are highly variable, and they are frequently related to other conditions besides …
risk effects are highly variable, and they are frequently related to other conditions besides …
Phase transition in postsynaptic densities underlies formation of synaptic complexes and synaptic plasticity
Postsynaptic densities (PSDs) are membrane semi-enclosed, submicron protein-enriched
cellular compartments beneath postsynaptic membranes, which constantly exchange their …
cellular compartments beneath postsynaptic membranes, which constantly exchange their …
Clinical whole-exome sequencing for the diagnosis of mendelian disorders
Background Whole-exome sequencing is a diagnostic approach for the identification of
molecular defects in patients with suspected genetic disorders. Methods We developed …
molecular defects in patients with suspected genetic disorders. Methods We developed …
Regulation of small gtpases by gefs, gaps, and gdis
J Cherfils, M Zeghouf - Physiological reviews, 2013 - journals.physiology.org
Small GTPases use GDP/GTP alternation to actuate a variety of functional switches that are
pivotal for cell dynamics. The GTPase switch is turned on by GEFs, which stimulate …
pivotal for cell dynamics. The GTPase switch is turned on by GEFs, which stimulate …
[HTML][HTML] Diagnostic exome sequencing in persons with severe intellectual disability
J De Ligt, MH Willemsen, BWM Van Bon… - … England Journal of …, 2012 - Mass Medical Soc
Background The causes of intellectual disability remain largely unknown because of
extensive clinical and genetic heterogeneity. Methods We evaluated patients with …
extensive clinical and genetic heterogeneity. Methods We evaluated patients with …
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
A Rauch, D Wieczorek, E Graf, T Wieland, S Endele… - The Lancet, 2012 - thelancet.com
Background The genetic cause of intellectual disability in most patients is unclear because
of the absence of morphological clues, information about the position of such genes, and …
of the absence of morphological clues, information about the position of such genes, and …
De novo mutations in human genetic disease
JA Veltman, HG Brunner - Nature Reviews Genetics, 2012 - nature.com
New mutations have long been known to cause genetic disease, but their true contribution to
the disease burden can only now be determined using family-based whole-genome or …
the disease burden can only now be determined using family-based whole-genome or …