Learn More
RGS2 (regulator of G-protein signaling 2) modulates dopamine receptor signal transduction. Functional variants in the gene may influence susceptibility to extrapyramidal symptoms (EPS) induced by antipsychotic drugs. To further investigate our previous report of association of the RGS2 gene with susceptibility to antipsychotic-induced EPS, we performed a(More)
We have previously studied the genetics of schizophrenia in a large inbred Arab-Israeli pedigree and found evidence for linkage on chromosome 20p13. This locus harbours four strong candidate genes for schizophrenia: atractin (ATRN), pantonate-kinase2 (PANK2), oxytocin (OXT) and arginine-vasopressin (AVP). In this study we further explored the association of(More)
We identified SLIT and NTRK-like 1 (SLITRK1) as a candidate gene for Tourette syndrome (TS) based on the mapping of a de novo chr13 inversion, the finding of a rare frameshift mutation in a family with TS, and the association of a functional rare 30 UTR variant (var321) corresponding to highly conserved miRNA binding domain. This rare allele was identified(More)
IMPORTANCE Hereditary spastic paraplegia is a highly heterogeneous group of neurogenetic disorders with pure and complicated clinical phenotypes. No treatment is available for these disorders. We identified 2 unrelated families, each with 2 siblings with severe methylenetetrahydrofolate reductase (MTHFR) deficiency manifesting a complicated form of(More)
Linkage and association studies in schizophrenia have repeatedly drawn attention to several chromosomal regions and to genes within them. Conflicting patterns of association and the lack of a clear functional significance of the associated variants limit the interpretation of these results. The use of rare pedigrees, where genes with a major effect cause(More)
The XVII World Congress of Psychiatric Genetics, sponsored by The International Society of Psychiatric Genetics (ISPG) took place in San Diego, California from 4 to 8 November 2009. Approximately 550 participants gathered to discuss the latest molecular genetic findings relevant to serious mental illness, including schizophrenia, mood disorders, substance(More)
The recent report by Fox et al. analyzed the impact of a common serotonin transporter polymorphism (5-HTTLPR) in biased attention toward positive and negative affective pictures. They found that homozygous for the ‘L’ variant (LL) differed significantly from the other genotype groups (Ls and ss) in terms of both their avoidance of negative material as well(More)
OBJECTIVE Striatal-enriched protein tyrosine phosphatase (STEP) is a brain-specific member of the protein tyrosine phosphatase (PTP) family that has been implicated in learning and memory. In this study, we examined the association of the protein tyrosine phosphatase non-receptor 5 (PTPN5) gene, which encodes for STEP, with both schizophrenia and cognitive(More)
NKp44 is a receptor encoded by the NCR2 gene, which is expressed by cytokine-activated natural killer (NK) cells that are involved in anti-AML immunity. NKp44 has three splice variants corresponding to NKp44ITIM+ (NKp44-1) and NKp44ITIM- (NKp44-2, and NKp44-3) isoforms. RNAseq data of AML patients revealed similar survival of NKp46+NKp44+ and NKp46+NKp44-(More)
Regulator of G-protein signaling 9 (RGS9) is a plausible candidate gene for schizophrenia, as this GTPase accelerating protein modulates dopamine D2 receptor signal transmission in basal ganglia (Rahman et al., 2003). RGS9-2 splice variant protein colocalizes with the dopamine D2 receptor through its DEP domain (Kovoor et al., 2005). RGS9 KO mice show(More)