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1.
Mol Psychiatry ; 16(1): 17-25, 2011 Jan.
Article in English | MEDLINE | ID: mdl-19786961

ABSTRACT

Deletions and reciprocal duplications of the chromosome 16p13.1 region have recently been reported in several cases of autism and mental retardation (MR). As genomic copy number variants found in these two disorders may also associate with schizophrenia, we examined 4345 schizophrenia patients and 35,079 controls from 8 European populations for duplications and deletions at the 16p13.1 locus, using microarray data. We found a threefold excess of duplications and deletions in schizophrenia cases compared with controls, with duplications present in 0.30% of cases versus 0.09% of controls (P=0.007) and deletions in 0.12 % of cases and 0.04% of controls (P>0.05). The region can be divided into three intervals defined by flanking low copy repeats. Duplications spanning intervals I and II showed the most significant (P = 0.00010) association with schizophrenia. The age of onset in duplication and deletion carriers among cases ranged from 12 to 35 years, and the majority were males with a family history of psychiatric disorders. In a single Icelandic family, a duplication spanning intervals I and II was present in two cases of schizophrenia, and individual cases of alcoholism, attention deficit hyperactivity disorder and dyslexia. Candidate genes in the region include NTAN1 and NDE1. We conclude that duplications and perhaps also deletions of chromosome 16p13.1, previously reported to be associated with autism and MR, also confer risk of schizophrenia.


Subject(s)
Chromosome Aberrations , Chromosomes, Human, Pair 16 , DNA Copy Number Variations , Schizophrenia/genetics , Adolescent , Adult , Case-Control Studies , Child , Chromosome Mapping , Female , Humans , Male , Reference Values , Segmental Duplications, Genomic/genetics , Sequence Deletion/genetics , Young Adult
2.
Phys Rev Lett ; 97(14): 144507, 2006 Oct 06.
Article in English | MEDLINE | ID: mdl-17155261

ABSTRACT

We describe Lagrangian measurements of water droplets in grid generated wind tunnel turbulence at a Taylor Reynolds number of R(lambda)=250 and an average Stokes number (St) of approximately 0.1. The inertial particles are tracked by a high speed camera moving along the side of the tunnel at the mean flow speed. The standardized acceleration probability density functions of the particles have spread exponential tails that are narrower than those of a fluid particles (St approximately 0) and there is a decrease in the acceleration variance with increasing Stokes number. A simple vortex model shows that the inertial particles selectively sample the fluid field and are less likely to experience regions of the fluid undergoing the largest accelerations. Recent direct numerical simulations compare favorably with these first measurements of Lagrangian statistics of inertial particles in highly turbulent flows.

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