Accelerated Maturation, Exhaustion, and Senescence of T cells in 22q11.2 Deletion Syndrome.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of clinical immunology"
DOI: 10.1007/s10875-021-01154-9
Abstract: PURPOSE 22q11.2 deletion syndrome (22q11.2DS) is a primary immunodeficiency characterized chiefly by the hypoplasia of the thymus resulting in T cell lymphopenia, increased susceptibility to infections, and higher risk of autoimmune diseases. The irregular thymic… read more here.
Keywords: deletion syndrome; cell; 22q11 2ds; senescence ... See more keywords
A pilot study on immuno-psychiatry in the 22q11.2 deletion syndrome: A role for Th17 cells in psychosis?
Sign Up to like & getrecommendations! Published in 2018 at "Brain, Behavior, and Immunity"
DOI: 10.1016/j.bbi.2018.03.022
Abstract: BACKGROUND A growing body of evidence supports a role for immune alterations in Schizophrenia Spectrum Disorders (SSD). A high prevalence (25-40%) of SSD has been found in patients with 22q11.2 deletion syndrome (22q11.2DS), which is… read more here.
Keywords: 22q11 2ds; th17 cells; study; role ... See more keywords
Detection Of Risk Genes For Psychosis In A Family With 22Q11.2ds - Preliminary Findings
Sign Up to like & getrecommendations! Published in 2017 at "European Neuropsychopharmacology"
DOI: 10.1016/j.euroneuro.2016.09.569
Abstract: Abstract The 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion syndrome in humans. It is a multisystem congenital anomaly disorder characterized by variable manifestations including high rates of neuropsychiatric disorders. A unique 22q11.2DS multigeneration… read more here.
Keywords: 22q11 2ds; detection risk; family; haplotype ... See more keywords
M104 EXAMINING ATTENTION DEFICIT HYPERACTIVITY DISORDER (ADHD) INATTENTION SYMPTOMS AS ANTECEDENTS OF PSYCHOSIS RISK IN 22Q11.2 DELETION SYNDROME (22Q11.2DS)
Sign Up to like & getrecommendations! Published in 2019 at "European Neuropsychopharmacology"
DOI: 10.1016/j.euroneuro.2017.08.411
Abstract: Background 22q11.2 Deletion Syndrome (22q11.2DS) is associated with high risk for developing schizophrenia in adulthood while Attention Deficit Hyperactivity Disorder (ADHD) constitutes the most frequent diagnosis in childhood. Individuals with 22q11.2DS show marked inattention symptoms.… read more here.
Keywords: inattention symptoms; 22q11 2ds; disorder; inattention ... See more keywords
Negative subthreshold psychotic symptoms distinguish 22q11.2 deletion syndrome from other neurodevelopmental disorders: A two-site study
Sign Up to like & getrecommendations! Published in 2017 at "Schizophrenia Research"
DOI: 10.1016/j.schres.2016.12.023
Abstract: About one third of individuals with 22q11.2 deletion syndrome (22q11.2DS) develop schizophrenia. Notably, a full-blown psychotic disorder is usually preceded by subthreshold symptoms. Therefore, it is important to identify early signs of psychosis in this… read more here.
Keywords: subthreshold psychotic; deletion syndrome; 22q11 2ds; symptoms distinguish ... See more keywords
Sleep problems and associations with psychopathology and cognition in young people with 22q11.2 deletion syndrome (22q11.2DS)
Sign Up to like & getrecommendations! Published in 2019 at "Psychological Medicine"
DOI: 10.1017/s0033291719001119
Abstract: Abstract Background Young people with 22q11.2 deletion syndrome (22q11.2DS) are at high risk for neurodevelopmental disorders. Sleep problems may play a role in this risk but their prevalence, nature and links to psychopathology and cognitive… read more here.
Keywords: 22q11 2ds; psychopathology; young people; people 22q11 ... See more keywords
Altered developmental trajectories of verbal learning skills in 22q11.2DS: associations with hippocampal development and psychosis.
Sign Up to like & getrecommendations! Published in 2022 at "Psychological medicine"
DOI: 10.1017/s0033291722001842
Abstract: BACKGROUND The cognitive profile in 22q11.2 deletion syndrome (22q11.2DS) is often characterized by a discrepancy between nonverbal vs. verbal reasoning skills, in favor of the latter skills. This dissociation has also been observed in memory,… read more here.
Keywords: development; 22q11 2ds; verbal learning; learning skills ... See more keywords
Untargeted metabolic analysis in dried blood spots reveals metabolic signature in 22q11.2 deletion syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Translational Psychiatry"
DOI: 10.1038/s41398-022-01859-4
Abstract: The 22q11.2 deletion syndrome (22q11.2DS) is characterized by a well-defined microdeletion and is associated with increased risk of neurodevelopmental phenotypes including autism spectrum disorders (ASD) and intellectual impairment. The typically deleted region in 22q11.2DS contains… read more here.
Keywords: analysis; 22q11 2ds; metabolic signature; 22q11 deletion ... See more keywords
Brain morphometry in 22q11.2 deletion syndrome: an exploration of differences in cortical thickness, surface area, and their contribution to cortical volume
Sign Up to like & getrecommendations! Published in 2020 at "Scientific Reports"
DOI: 10.1038/s41598-020-75811-1
Abstract: 22q11.2 Deletion Syndrome (22q11.2DS) is the most common microdeletion in humans, with a heterogenous clinical presentation including medical, behavioural and psychiatric conditions. Previous neuroimaging studies examining the neuroanatomical underpinnings of 22q11.2DS show alterations in cortical… read more here.
Keywords: deletion syndrome; 22q11 2ds; cortical volume; thickness surface ... See more keywords
Long-term verbal memory deficit and associated hippocampal alterations in 22q11.2 deletion syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Child Neuropsychology"
DOI: 10.1080/09297049.2019.1657392
Abstract: ABSTRACT Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a genetic disease associated with an increased risk for schizophrenia and a specific cognitive profile. In this paper, we challenge the current view of spared verbal memory in… read more here.
Keywords: memory; 22q11 2ds; long term; verbal memory ... See more keywords
Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2
Sign Up to like & getrecommendations! Published in 2018 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddy028
Abstract: Recurrent, de novo, meiotic non-allelic homologous recombination events between low copy repeats, termed LCR22s, leads to the 22q11.2 deletion syndrome (22q11.2DS; velo-cardio-facial syndrome/DiGeorge syndrome). Although most 22q11.2DS patients have a similar sized 3 million base… read more here.
Keywords: 1680 22q11; 22q11 2ds; 2ds subjects; deletion ... See more keywords