22q11. 2 deletion syndrome

DM McDonald-McGinn, KE Sullivan, B Marino… - Nature reviews Disease …, 2015 - nature.com
Abstract 22q11. 2 deletion syndrome (22q11. 2DS) is the most common chromosomal
microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic …

The CLDN5 gene at the blood-brain barrier in health and disease

Y Hashimoto, C Greene, A Munnich… - Fluids and Barriers of the …, 2023 - Springer
The CLDN5 gene encodes claudin-5 (CLDN-5) that is expressed in endothelial cells and
forms tight junctions which limit the passive diffusions of ions and solutes. The blood–brain …

Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting

C Betancur - Brain research, 2011 - Elsevier
There is increasing evidence that autism spectrum disorders (ASDs) can arise from rare
highly penetrant mutations and genomic imbalances. The rare nature of these variants, and …

Advanced cell culture techniques for cancer drug discovery

CJ Lovitt, TB Shelper, VM Avery - Biology, 2014 - mdpi.com
Human cancer cell lines are an integral part of drug discovery practices. However, modeling
the complexity of cancer utilizing these cell lines on standard plastic substrata, does not …

Genome‐wide association study of schizophrenia in Ashkenazi Jews

FS Goes, J McGrath, D Avramopoulos… - American Journal of …, 2015 - Wiley Online Library
Schizophrenia is a common, clinically heterogeneous disorder associated with lifelong
morbidity and early mortality. Several genetic variants associated with schizophrenia have …

Convergent functional genomics of schizophrenia: from comprehensive understanding to genetic risk prediction

M Ayalew, H Le-Niculescu, DF Levey, N Jain… - Molecular …, 2012 - nature.com
We have used a translational convergent functional genomics (CFG) approach to identify
and prioritize genes involved in schizophrenia, by gene-level integration of genome-wide …

22q11. 2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia

M Karayiorgou, TJ Simon, JA Gogos - Nature Reviews Neuroscience, 2010 - nature.com
Recent studies are beginning to paint a clear and consistent picture of the impairments in
psychological and cognitive competencies that are associated with microdeletions in …

Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11. 2 deletion syndromes

LJ Kobrynski, KE Sullivan - The Lancet, 2007 - thelancet.com
Velocardiofacial syndrome, DiGeorge syndrome, and some other clinical syndromes have in
common a high frequency of hemizygous deletions of chromosome 22q11. 2. This deletion …

Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model

KL Stark, B Xu, A Bagchi, WS Lai, H Liu, R Hsu… - Nature …, 2008 - nature.com
Abstract Individuals with 22q11. 2 microdeletions show behavioral and cognitive deficits and
are at high risk of developing schizophrenia. We analyzed an engineered mouse strain …

Realistic expectations of prepulse inhibition in translational models for schizophrenia research

NR Swerdlow, M Weber, Y Qu, GA Light, DL Braff - Psychopharmacology, 2008 - Springer
Introduction Under specific conditions, a weak lead stimulus, or “prepulse”, can inhibit the
startling effects of a subsequent intense abrupt stimulus. This startle-inhibiting effect of the …