Partial deletions of the long arm of chromosome 13 lead to variable phenotypes dependant
on the size and position of the deleted region. In order to update the phenotypic map of …

Three Sec7 guanine nucleotide exchange factors (GEFs) activate ADP-ribosylation factors
(ARFs) to facilitate coating of transport vesicles within the secretory and endosomal …

Neuronal positioning is a fundamental process during brain development. Abnormalities in
this process cause several types of brain malformations and are linked to …

The X‐linked filaminopathies represent a diverse group of clinical conditions, all caused by
variants in the gene FLNA. FLNA encodes the widely expressed actin binding protein …

The Sec7 domain ADP-ribosylation factor (Arf) guanine nucleotide exchange factors (GEFs)
are found in all eukaryotes, and are involved in membrane remodeling processes …

We present four patients, in whom we identified overlapping deletions in 5q14. 3 involving
MEF2C using a clinical oligonucleotide array comparative genomic hybridization (CGH) …

The objective of this article is to review the pathophysiological bases of gray matter
heterotopia and to appreciate their involvement in brain cortical development and functional …

The Golgi apparatus (GA) is involved in a whole spectrum of activities, from lipid
biosynthesis and membrane secretion to the posttranslational processing and trafficking of …

We have found that the brefeldin A‐inhibited GDP/GTP exchange factor 2 (BIG2) interacts
with the β subunits of the γ‐aminobutyric acid type‐A receptor (GABAAR). BIG2 is a Sec7 …

Functional and structural plasticity is a fundamental property of the brain involved in diverse
processes ranging from brain construction and repair to storage of experiences during …