Search Results - "Maclean, Alan"
-
1
Interaction between Chromatin Proteins MECP2 and ATRX Is Disrupted by Mutations That Cause Inherited Mental Retardation
Published in Proceedings of the National Academy of Sciences - PNAS (20-02-2007)“…Mutations in the human methyl-CpG-binding protein gene MECP2 cause the neurological disorder Rett syndrome and some cases of X-linked mental retardation…”
Get full text
Journal Article -
2
A Cytogenetic Abnormality and Rare Coding Variants Identify ABCA13 as a Candidate Gene in Schizophrenia, Bipolar Disorder, and Depression
Published in American journal of human genetics (11-12-2009)“…Schizophrenia and bipolar disorder are leading causes of morbidity across all populations, with heritability estimates of ∼80% indicating a substantial genetic…”
Get full text
Journal Article -
3
Association of GPR50, an X-linked orphan G protein-coupled receptor, and affective disorder in an independent sample of the Scottish population
Published in Neuroscience letters (21-05-2010)“…A recent report detected association between GPR50, an orphan G protein-coupled receptor, and bipolar disorder (BD) in the Scottish population [29]. We sought…”
Get full text
Journal Article -
4
Repeated nebulisation of non-viral CFTR gene therapy in patients with cystic fibrosis: a randomised, double-blind, placebo-controlled, phase 2b trial
Published in The lancet respiratory medicine (01-09-2015)“…Summary Background Lung delivery of plasmid DNA encoding the CFTR gene complexed with a cationic liposome is a potential treatment option for patients with…”
Get full text
Journal Article -
5
Rare chromosomal deletions and duplications increase risk of schizophrenia
Published in Nature (11-09-2008)“…Schizophrenia is a severe mental disorder marked by hallucinations, delusions, cognitive deficits and apathy, with a heritability estimated at 73-90% (ref. 1)…”
Get full text
Journal Article -
6
Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions
Published in PLoS genetics (01-06-2009)“…Translating a set of disease regions into insight about pathogenic mechanisms requires not only the ability to identify the key disease genes within them, but…”
Get full text
Journal Article -
7
Quantitative T1 brain mapping in early relapsing-remitting multiple sclerosis: longitudinal changes, lesion heterogeneity and disability
Published in European radiology (01-06-2024)“…Objectives To quantify brain microstructural changes in recently diagnosed relapsing-remitting multiple sclerosis (RRMS) using longitudinal T 1 measures, and…”
Get full text
Journal Article -
8
Molecular pathways involved in neuronal cell adhesion and membrane scaffolding contribute to schizophrenia and bipolar disorder susceptibility
Published in Molecular psychiatry (01-03-2011)“…Susceptibility to schizophrenia and bipolar disorder may involve a substantial, shared contribution from thousands of common genetic variants, each of small…”
Get full text
Journal Article -
9
Runs of homozygosity implicate autozygosity as a schizophrenia risk factor
Published in PLoS genetics (01-04-2012)“…Autozygosity occurs when two chromosomal segments that are identical from a common ancestor are inherited from each parent. This occurs at high rates in the…”
Get full text
Journal Article -
10
Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function
Published in PLoS genetics (01-09-2010)“…Investigators have linked rare copy number variation (CNVs) to neuropsychiatric diseases, such as schizophrenia. One hypothesis is that CNV events cause…”
Get full text
Journal Article -
11
Homozygosity mapping of depressive disorder in a large family from Pakistan: Significant linkage on chromosome 6 and 9
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01-03-2013)“…A large family with a high prevalence of recurrent major depression and high average inbreeding coefficient was ascertained from rural Pakistan. Subjects were…”
Get full text
Journal Article -
12
Investigation of the genetic association between quantitative measures of psychosis and schizophrenia: a polygenic risk score analysis
Published in PloS one (22-06-2012)“…The presence of subclinical levels of psychosis in the general population may imply that schizophrenia is the extreme expression of more or less continuously…”
Get full text
Journal Article -
13
A bias-reducing pathway enrichment analysis of genome-wide association data confirmed association of the MHC region with schizophrenia
Published in Journal of medical genetics (01-02-2012)“…After the recent successes of genome-wide association studies (GWAS), one key challenge is to identify genetic variants that might have a significant joint…”
Get more information
Journal Article -
14
A genome wide survey supports the involvement of large copy number variants in schizophrenia with and without intellectual disability
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01-12-2013)“…Background Copy number variants (CNVs) have been shown to play a role in schizophrenia and intellectual disability. Methods We compared the CNV burden in 66…”
Get full text
Journal Article -
15
MRI-derived g-ratio and lesion severity in newly diagnosed multiple sclerosis
Published in Brain communications (2021)“…Abstract Myelin loss is associated with axonal damage in established multiple sclerosis. This relationship is challenging to study in vivo in early disease…”
Get full text
Journal Article -
16
Association analysis of Neuregulin 1 candidate regions in schizophrenia and bipolar disorder
Published in Neuroscience letters (30-06-2010)“…Schizophrenia (SCZ) and bipolar disorder (BPD) are severe heritable psychiatric disorders involving a complex genetic aetiology. Neuregulin 1 ( NRG1) is a…”
Get full text
Journal Article -
17
Genome-wide linkage analysis of 972 bipolar pedigrees using single-nucleotide polymorphisms
Published in Molecular psychiatry (01-08-2012)“…Because of the high costs associated with ascertainment of families, most linkage studies of Bipolar I disorder (BPI) have used relatively small samples…”
Get full text
Journal Article -
18
Two non-synonymous markers in PTPN21 , identified by genome-wide association study data-mining and replication, are associated with schizophrenia
Published in Schizophrenia research (01-09-2011)“…Abstract We conducted data-mining analyses of genome wide association (GWA) studies of the CATIE and MGS-GAIN datasets, and found 13 markers in the two…”
Get full text
Journal Article -
19
Genetic classification of populations using supervised learning
Published in PloS one (12-05-2011)“…There are many instances in genetics in which we wish to determine whether two candidate populations are distinguishable on the basis of their genetic…”
Get full text
Journal Article -
20
Initial association of NR2E1 with bipolar disorder and identification of candidate mutations in bipolar disorder, schizophrenia, and aggression through resequencing
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (05-09-2008)“…Nuclear receptor 2E1 gene (NR2E1) resides within a 6q21‐22 locus for bipolar disorder and schizophrenia. Mice deleted for Nr2e1 show altered neurogenesis,…”
Get full text
Journal Article