20 documents found, page 1 of 2
Systematic Review and Meta-Analysis of Mass Spectrometry Proteomics Applied to ...
Rodrigues, João E.; Martinho, Ana; Santa, Cátia; Madeira, Nuno; Coroa, Manuel; Santos, Vítor; Martins, Maria J.; Pato, Carlos N.; Macedo, AntónioMass spectrometry (MS)-based techniques can be a powerful tool to identify neuropsychiatric disorder biomarkers, improving prediction and diagnosis ability. Here, we evaluate the efficacy of MS proteomics applied to human peripheral fluids of schizophrenia (SCZ) patients to identify disease biomarkers and relevant networks of biological pathways. Following PRISMA guidelines, a search was performed for studies t...
Systematic Review and Meta-Analysis on MS-Based Proteomics Applied to Human Per...
Rodrigues, Joao E.; Martinho, Ana; Santos, Vítor; Santa, Cátia; Madeira, Nuno; Martins, Maria J.; Pato, Carlos N.; Macedo, António; Manadas, BrunoBipolar disorder (BD) is a clinically heterogeneous condition, presenting a complex underlying etiopathogenesis that is not sufficiently characterized. Without molecular biomarkers being used in the clinical environment, several large screen proteomics studies have been conducted to provide valuable molecular information. Mass spectrometry (MS)-based techniques can be a powerful tool for the identification of d...
Intervenções psicoeducativas dirigidas a familiares de indivíduos com transtorn...
Cabral, Joana Moura; Carvalho, Célia; Castilho, Paula; Pato, Carlos N.Os familiares/cuidadores informais (CI) de indivíduos com transtornos mentais graves, como é o caso do Transtorno Bipolar (TB), estão sujeitos a um conjunto de dificuldades. Deste modo, é internacionalmente reconhecia a necessidade de se consolidar o apoio prestado a este tipo de CI. O presente estudo tem como objetivo analisar as características de intervenções destinadas a CI de indivíduos com TB, a partir de...
Association Study of 83 Candidate Genes for Bipolar Disorder in Chromosome 6q S...
Bigdeli, Bernard; Maher, Brion S.; Zhao, Zhongming; Sun, Jingchun; Medeiros, Helena; Akula, Nirmala; McMahon, Francis J.; Carvalho, CéliaBackground: Prior genome-scans of bipolar disorder have revealed chromosome 6q22 as a promising candidate region. However, linkage disequilibrium (LD) mapping studies have yet to identify replicated susceptibility loci. Methods: We analyzed 1,422 LD-tagging single nucleotide polymorphisms (SNPs) in 83 genes to test single-marker and locus-wide evidence of association with bipolar disorder in the NIMH Genetics I...
Genetic Overlap of Schizophrenia and Bipolar Disorder in a High-Density Linkage...
Fanous, Ayman H.; Middleton, Frank A.; Gentile, Karen; Amdur, Richard L.; Maher, Brion S.; Zhao, Zhongming; Sun, Jingchun; Medeiros, HelenaRecent family and genome-wide association studies strongly suggest shared genetic risk factors for schizophrenia (SZ) and bipolar disorder (BP). However, linkage studies have not been used to test for statistically significant genome-wide overlap between them. Forty-seven Portuguese families with sibpairs concordant for SZ, BP, or psychosis (PSY, which includes either SZ or psychotic BP) were genotyped for over...
Common polygenic variation contributes to risk of schizophrenia and bipolardiso...
Purcell, S. M.; Wray, N. R.; Stone, J. L.; Visscher, P. M.; O'Donovan, M. C.; Sullivan, P. F.; Sklar, P.; Leader, S. M.; Ruderfer, D. M.; McQuillin, A.Schizophrenia is a severe mental disorder with a lifetime risk of about 1%, characterized by hallucinations, delusions and cognitive deficits, with heritability estimated at up to 80%. We performed a genome-wide association study of 3,322 European individuals with schizophrenia and 3,587 controls. Here we show, using two analytic approaches, the extent to which common genetic variation underlies the risk of sch...
Rare chromosomal deletions and duplications increase risk of schizophrenia
Craddock, N. J.; Gill, M.; Hultman, C. M.; Lichtenstein, P.; McQuillin, A.; Pato, Carlos N.; Ruderfer, D. M.; Owen, M. J.; St Clair, DavidSchizophrenia is a severe mental disorder marked by hallucinations, delusions, cognitive deficits and apathy, with a heritability estimated at 73–90% (ref. 1). Inheritance patterns are complex, and the number and type of genetic variants involved are not understood. Copy number variants (CNVs) have been identified in individual patients with schizophrenia and also in neurodevelopmental disorders, but large-scal...
Genetic linkage of bipolar disorder to chromosome 6q22 is a consistent finding ...
Pato, Carlos N.; Middleton, Frank A.; Gentile, Karen L.; Morley, Christopher P.; Medeiros, Helena; Macedo, António; Azevedo, M. Helena; Pato, Michele T.We recently reported genome-wide significant linkage to chromosome 6q for bipolar disorder, in a study of 25 Portuguese families, using the Human Mapping Assay Xba 131 (HMA10K). To explore the generalizability of this finding, we reanalyzed our SNP linkage data according to the families' geographic origin. Specifically, the 25 families included 20 families from the Portuguese island collection (PIC; 15 families...
Gene expression analysis of peripheral blood leukocytes from discordant sib-pai...
Middleton, Frank A.; Pato, Carlos N.; Gentile, Karen L.; McGann, Lindsay; Brown, Andrea M.; Trauzzi, Marco; Diab, Heba; Morley, Christopher P.We performed global RNA transcript analysis and comprehensive gene group analysis of peripheral blood leukocyte (PBL) RNA from two groups of matched sib-pairs that were discordant for either schizophrenia (n = 33 sib-pairs) or bipolar disorder (n = 5 sib-pairs). The pairs chosen for these analyses were selected from families with known patterns of genetic linkage (5q for schizophrenia and 6q for bipolar disorde...
A linkage study between the GABAA beta2 and GABAA gamma2 subunit genes and majo...
Ambrósio, Alda M.; Kennedy, James L.; Macciardi, Fabio; King, Nicole; Azevedo, Maria H.; Oliveira, Catarina R.; Pato, Carlos N.Background: Alterations of the γ-aminobutyric acid (GABA) system have been implicated in the pathophysiology of major psychoses. Objective: Restriction fragment length polymorphisms associated with the human γ-aminobutyric acid type A (GABAA) β2 and GABAA γ2 subunit genes on chromosome 5q32-q35 were tested to determine whether they confer susceptibility to major psychoses. Methods: Thirty-two schizophrenic fami...