Implications of gene copy-number variation in health and diseases
SH Almal, H Padh - Journal of human genetics, 2012 - nature.com
Inter-individual genomic variations have recently become evident with advances in
sequencing techniques and genome-wide array comparative genomic hybridization. Among …
sequencing techniques and genome-wide array comparative genomic hybridization. Among …
Neuronal impact of patient-specific aberrant NRXN1α splicing
NRXN1 undergoes extensive alternative splicing, and non-recurrent heterozygous deletions
in NRXN1 are strongly associated with neuropsychiatric disorders. We establish that human …
in NRXN1 are strongly associated with neuropsychiatric disorders. We establish that human …
Neurexins and neuropsychiatric disorders
E Kasem, T Kurihara, K Tabuchi - Neuroscience research, 2018 - Elsevier
Neurexins are a family of presynaptic single-pass transmembrane proteins that act as
synaptic organizers in mammals. The neurexins consist of three genes (NRXN1, NRXN2 …
synaptic organizers in mammals. The neurexins consist of three genes (NRXN1, NRXN2 …
Copy number and SNP arrays in clinical diagnostics
CP Schaaf, J Wiszniewska… - Annual review of …, 2011 - annualreviews.org
The ability of chromosome microarray analysis (CMA) to detect submicroscopic genetic
abnormalities has revolutionized the clinical diagnostic approach to individuals with …
abnormalities has revolutionized the clinical diagnostic approach to individuals with …
Global landscape and genetic regulation of RNA editing in cortical samples from individuals with schizophrenia
RNA editing critically regulates neurodevelopment and normal neuronal function. The global
landscape of RNA editing was surveyed across 364 schizophrenia cases and 383 control …
landscape of RNA editing was surveyed across 364 schizophrenia cases and 383 control …
The genetics of neurodevelopmental disease
KJ Mitchell - Current opinion in neurobiology, 2011 - Elsevier
The term neurodevelopmental disorder encompasses a wide range of diseases, including
recognizably distinct syndromes known to be caused by very rare mutations in specific …
recognizably distinct syndromes known to be caused by very rare mutations in specific …
The specific α-neurexin interactor calsyntenin-3 promotes excitatory and inhibitory synapse development
Perturbations of cell surface synapse-organizing proteins, particularly α-neurexins,
contribute to neurodevelopmental and psychiatric disorders. From an unbiased screen, we …
contribute to neurodevelopmental and psychiatric disorders. From an unbiased screen, we …
Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions
EA Maury, MA Sherman, G Genovese, TG Gilgenast… - Cell genomics, 2023 - cell.com
While germline copy-number variants (CNVs) contribute to schizophrenia (SCZ) risk, the
contribution of somatic CNVs (sCNVs)—present in some but not all cells—remains …
contribution of somatic CNVs (sCNVs)—present in some but not all cells—remains …
Immunogenetics of lithium response and psychiatric phenotypes in patients with bipolar disorder
M Herrera-Rivero, K Gutiérrez-Fragoso, J Kurtz… - Translational …, 2024 - nature.com
The link between bipolar disorder (BP) and immune dysfunction remains controversial.
While epidemiological studies have long suggested an association, recent research has …
While epidemiological studies have long suggested an association, recent research has …
What is complex about complex disorders?
KJ Mitchell - Genome biology, 2012 - Springer
What is complex about complex disorders? | Genome Biology Skip to main content SpringerLink
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