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Expression and genetic variability of PCDH11Y, a gene specific to Homo sapiens and candidate for susceptibility to psychiatric disorders.

https://arctichealth.org/en/permalink/ahliterature171675
Source
Am J Med Genet B Neuropsychiatr Genet. 2006 Jan 5;141B(1):67-70
Publication Type
Article
Date
Jan-5-2006
Author
Christelle M Durand
Caroline Kappeler
Catalina Betancur
Richard Delorme
Hélène Quach
Hany Goubran-Botros
Jonas Melke
Gudrun Nygren
Nadia Chabane
Franck Bellivier
Andrei Szoke
Franck Schurhoff
Maria Rastam
Henrik Anckarsäter
Christopher Gillberg
Marion Leboyer
Thomas Bourgeron
Author Affiliation
Human Genetics and Cognitive Functions, Institut Pasteur, 25 rue du Docteur Roux, 75724 Paris Cedex 15, France.
Source
Am J Med Genet B Neuropsychiatr Genet. 2006 Jan 5;141B(1):67-70
Date
Jan-5-2006
Language
English
Publication Type
Article
Keywords
Amino Acid Sequence
Attention Deficit Disorder with Hyperactivity - genetics
Autistic Disorder - genetics
Bipolar Disorder - genetics
Brain - metabolism
Cadherins - genetics
DNA Mutational Analysis
France
Gene Expression
Gene Frequency
Genetic Predisposition to Disease - genetics
Haplotypes
Humans
Male
Mental Disorders - genetics
Molecular Sequence Data
Mutation
Mutation, Missense
Polymorphism, Genetic
RNA - genetics - metabolism
Reverse Transcriptase Polymerase Chain Reaction
Sequence Homology, Amino Acid
Sweden
Abstract
Synaptogenesis, the formation of functional synapses, is a crucial step for the development of the central nervous system. Among the genes involved in this process are cell adhesion molecules, such as protocadherins and neuroligins, which are essential factors for the identification of the appropriate partner cell and the formation of synapses. In this work, we studied the expression and the genetic variability of two closely related members of the protocadherin family PCDH11X/Y, located on the X and the Y chromosome, respectively. PCDH11Y is one of the rare genes specific to the hominoid lineage, being absent in other primates. Expression analysis indicated that transcripts of the PCDH11X/Y genes are mainly detected in the cortex of the human brain. Mutation screening of 30 individuals with autism identified two PCDH11Y polymorphic amino acid changes, F885V and K980N. These variations are in complete association, appeared during human evolution approximately 40,000 years ago and represent informative polymorphisms to study Y chromosome variability in populations. We studied the frequency of these variants in males with autism spectrum disorders (n = 110), attention deficit hyperactivity disorder (ADHD; n = 61), bipolar disorder (n = 61), obsessive-compulsive disorder (n = 51), or schizophrenia (n = 61) and observed no significant differences when compared to ethnically-matched control populations. These findings do not support the role of PCDH11Y, or more generally of a frequent specific Y chromosome, in the susceptibility to these neuropsychiatric disorders.
PubMed ID
16331680 View in PubMed
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National funding for mental health research in Finland, France, Spain and the United Kingdom.

https://arctichealth.org/en/permalink/ahliterature291605
Source
Eur Neuropsychopharmacol. 2017 09; 27(9):892-899
Publication Type
Comparative Study
Journal Article
Date
09-2017
Author
Jean-Baptiste Hazo
Coralie Gandré
Marion Leboyer
Carla Obradors-Tarragó
Stefano Belli
David McDaid
A-La Park
Maria Victoria Maliandi
Kristian Wahlbeck
Til Wykes
Jim van Os
Josep Maria Haro
Karine Chevreul
Author Affiliation
ECEVE, UMRS 1123, Université Paris Diderot, Sorbonne Paris Cité, INSERM, Paris, France; AP-HP, URC-Eco, DHU Pepsy, F-75004 Paris, France; Foundation FondaMental, French National Science Foundation, Créteil, France. Electronic address: jeanbaptiste.hazo@urc-eco.fr.
Source
Eur Neuropsychopharmacol. 2017 09; 27(9):892-899
Date
09-2017
Language
English
Publication Type
Comparative Study
Journal Article
Keywords
Biomedical Research - economics
Charities - economics
Finland
France
Humans
Mental Health - economics
Spain
United Kingdom
Abstract
As part of the Roamer project, we aimed at revealing the share of health research budgets dedicated to mental health, as well as on the amounts allocated to such research for four European countries. Finland, France, Spain and the United Kingdom national public and non-profit funding allocated to mental health research in 2011 were investigated using, when possible, bottom-up approaches. Specifics of the data collection varied from country to country. The total amount of public and private not for profit mental health research funding for Finland, France, Spain and the UK was €10·2, €84·8, €16·8, and €127·6 million, respectively. Charities accounted for a quarter of the funding in the UK and less than six per cent elsewhere. The share of health research dedicated to mental health ranged from 4·0% in the UK to 9·7% in Finland. When compared to the DALY attributable to mental disorders, Spain, France, Finland, and the UK invested respectively €12·5, €31·2, €39·5, and €48·7 per DALY. Among these European countries, there is an important gap between the level of mental health research funding and the economic and epidemiologic burden of mental disorders.
PubMed ID
28647453 View in PubMed
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Psychometric properties of the Affective Lability Scale (54 and 18-item version) in patients with bipolar disorder, first-degree relatives, and healthy controls.

https://arctichealth.org/en/permalink/ahliterature277357
Source
J Affect Disord. 2015 Feb 1;172:375-80
Publication Type
Article
Date
Feb-1-2015
Author
Monica Aas
Geir Pedersen
Chantal Henry
Thomas Bjella
Frank Bellivier
Marion Leboyer
Jean-Pierre Kahn
Renaud F Cohen
Sebastien Gard
Sofie R Aminoff
Trine V Lagerberg
Ole A Andreassen
Ingrid Melle
Bruno Etain
Source
J Affect Disord. 2015 Feb 1;172:375-80
Date
Feb-1-2015
Language
English
Publication Type
Article
Keywords
Adult
Affect
Bipolar Disorder - psychology
Case-Control Studies
Factor Analysis, Statistical
Family
Female
France
Humans
Male
Norway
Psychiatric Status Rating Scales
Psychometrics
Reproducibility of Results
Abstract
The aim of this study was to investigate the psychometric properties of the original 54 item version (ALS-54) and the short 18 item version (ALS-18) of the Affective Lability Scale (ALS) in patients with bipolar disorders, their first-degree relatives and healthy controls. Internal Consistency and Confirmatory Factor Analysis were performed, comparing clinical and non-clinical group comparisons on ALS scores.
A total of 993 participants (patients with bipolar disorders [n=422], first-degree relatives [n=201] and controls [n=370]) were recruited from France and Norway. Diagnosis and clinical characteristics were assessed using the Structured Clinical Interview for DSM-IV Axis I disorders (SCID-I), or the Diagnostic Interview for Genetic Studies (DIGS). Affective lability was measured using the ALS-54 and ALS-18.
Both ALS-54 and ALS-18 showed high internal consistency, but the subdimensions of both versions were highly inter-correlated. From confirmatory factor analysis both versions revealed acceptable to good model fit. Patients had significantly higher ALS scores compared to controls, with affected first-degree relatives presenting intermediate scores.
Both the original ALS-54 version and the short ALS-18 version showed good psychometric properties. They also discriminated between patients with a bipolar disorder (high ALS), first degree relatives (intermediate ALS), and healthy controls (low ALS). A high correlation between ALS items for both versions was observed. Our study supports reducing the scale from 54 to 18 items.
PubMed ID
25451440 View in PubMed
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