Genetic correlations among psychiatric and immune‐related phenotypes based on genome‐wide association data
Individuals with psychiatric disorders have elevated rates of autoimmune comorbidity and
altered immune signaling. It is unclear whether these altered immunological states have a …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
disabilities,,. Many forms of malformation occur sporadically and are associated with …
Human induced pluripotent stem cells for modelling neurodevelopmental disorders
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 …
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 …
messenger cAMP. Mammals possess nine isoforms of transmembrane ACs, dubbed AC1–9 …