Genetic correlations among psychiatric and immune‐related phenotypes based on genome‐wide association data

DS Tylee, J Sun, JL Hess, MA Tahir… - American Journal of …, 2018 - Wiley Online Library
Individuals with psychiatric disorders have elevated rates of autoimmune comorbidity and
altered immune signaling. It is unclear whether these altered immunological states have a …

TRIM proteins and diseases

M Watanabe, S Hatakeyama - The Journal of Biochemistry, 2017 - academic.oup.com
Ubiquitination is one of the posttranslational modifications that regulates a number of
intracellular events including signal transduction, protein quality control, transcription, cell …

NGS technologies as a turning point in rare disease research, diagnosis and treatment

A Fernandez-Marmiesse, S Gouveia… - Current medicinal …, 2018 - ingentaconnect.com
Approximately 25-50 million Americans, 30 million Europeans, and 8% of the Australian
population have a rare disease. Rare diseases are thus a common problem for clinicians …

High frequencies of de novo CNVs in bipolar disorder and schizophrenia

D Malhotra, S McCarthy, JJ Michaelson, V Vacic… - Neuron, 2011 - cell.com
While it is known that rare copy-number variants (CNVs) contribute to risk for some
neuropsychiatric disorders, the role of CNVs in bipolar disorder is unclear. Here, we …

Properties and rates of germline mutations in humans

CD Campbell, EE Eichler - Trends in Genetics, 2013 - cell.com
All genetic variation arises via new mutations; therefore, determining the rate and biases for
different classes of mutation is essential for understanding the genetics of human disease …

Genomic insights into the overlap between psychiatric disorders: implications for research and clinical practice

JL Doherty, MJ Owen - Genome medicine, 2014 - Springer
Psychiatric disorders such as schizophrenia, bipolar disorder, major depressive disorder,
attention-deficit/hyperactivity disorder and autism spectrum disorder are common and result …

The dynamics of DNA methylation in schizophrenia and related psychiatric disorders

DR Grayson, A Guidotti - Neuropsychopharmacology, 2013 - nature.com
Major psychiatric disorders such as schizophrenia (SZ) and bipolar disorder (BP) with
psychosis (BP+) express a complex symptomatology characterized by positive symptoms …

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

JB Rivière, BWM Van Bon, A Hoischen… - Nature …, 2012 - nature.com
Brain malformations are individually rare but collectively common causes of developmental
disabilities,,. Many forms of malformation occur sporadically and are associated with …

Human induced pluripotent stem cells for modelling neurodevelopmental disorders

K Ardhanareeswaran, J Mariani, G Coppola… - Nature Reviews …, 2017 - nature.com
We currently have a poor understanding of the pathogenesis of neurodevelopmental
disorders, owing to the fact that postmortem and imaging studies can only measure the …

Physiological roles of mammalian transmembrane adenylyl cyclase isoforms

KF Ostrom, JE LaVigne, TF Brust… - Physiological …, 2022 - journals.physiology.org
Adenylyl cyclases (ACs) catalyze the conversion of ATP to the ubiquitous second
messenger cAMP. Mammals possess nine isoforms of transmembrane ACs, dubbed AC1–9 …