28 research outputs found

    Is Ankyrin a genetic risk factor for psychiatric phenotypes?

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    Background Genome wide association studies reported two single nucleotide polymorphisms in ANK3 (rs9804190 and rs10994336) as independent genetic risk factors for bipolar disorder. Another SNP in ANK3 (rs10761482) was associated with schizophrenia in a large European sample. Within the debate on common susceptibility genes for schizophrenia and bipolar disorder, we tried to investigate common findings by analyzing association of ANK3 with schizophrenia, bipolar disorder and unipolar depression. Methods We genotyped three single nucleotide polymorphisms (SNPs) in ANK3 (rs9804190, rs10994336, and rs10761482) in a case-control sample of German descent including 920 patients with schizophrenia, 400 with bipolar affective disorder, 220 patients with unipolar depression according to ICD 10 and 480 healthy controls. Sample was further differentiated according to Leonhard's classification featuring disease entities with specific combination of bipolar and psychotic syndromes. Results We found no association of rs9804190 and rs10994336 with bipolar disorder, unipolar depression or schizophrenia. In contrast to previous findings rs10761482 was associated with bipolar disorder (p = 0.015) but not with schizophrenia or unipolar depression. We observed no association with disease entities according to Leonhard's classification. Conclusion Our results support a specific genetic contribution of ANK3 to bipolar disorder though we failed to replicate findings for schizophrenia. We cannot confirm ANK3 as a common risk factor for different diseases

    SpeechDat AT: Telephone speech databases for Austrian German

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    We present two telephone speech databases for Austrian German. The databases contain one thousand calls each, from the fixed and from the mobile telephone network. Speakers were chosen to assure a representative distribution over accent regions, sex, and age groups. The databases are compliant with the guidelines of the Speechdat project. We discuss the characteristics of Austrian German, describe the contents of the databases, the speaker recruitment methods, transcriptions of the calls, the phonetic lexicon, and quality assurance measures. In the end, we outline our plans to use the database for research on the pronunciation of Austrian German and automatic dialect identification. 1. Characteristics of Austrian German There are two basic theories about what is "Austrian German". One is, that the German spoken in Austria is the number of dialects within the area of the Republic of Austria, as there are quite a lot in Germany as well. The other is, that German is a language with more than one centre, a so-called pluricentric language (Muhr, 1997). This is not onl

    Prosody-Based Recognition Of Spoken German Varieties

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    An approach to the recognition of regional language varieties is presented. The algorithm is tested on utterances of 3 to 6 seconds duration taken from large speech databases (SpeechDat) of Austrian and German German. The features are based only on the prosody of the speech and include parameters derived from the Fujisaki model and statistics of the fundamental frequency. Classification is performed using a multi layer perceptron and yielded a rate of 64% correct identification of the regional variety. Those result

    HAS2-AS1 is a novel LH/hCG target gene regulating HAS2 expression and enhancing cumulus cells migration

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    Abstract Background The cumulus expansion process is one of the LH mediated ovulatory processes. Hyaluronan synthase 2 (HAS2) regulates the synthesis of hyaluronic acid, the main component of the cumulus expansion process. Recently, the lncRNA HAS2 antisense RNA 1 (HAS2-AS1) was identified in our global transcriptome RNA-sequencing of novel ovulation associated genes. The role of HAS2-AS1 in HAS2 regulation w.as studied previously with contradictive results in different models but not in the ovary. Taken together the induction of HAS2-AS1 and the important role of HAS2 in the cumulus expansion process, we hypothesize that HAS2-AS1 regulate HAS2 expression and function in the ovary. Therefore we undertook to study the expression, regulation, and possible functional role of HAS2-AS1 in the human ovary. Results HAS2-AS1, located within the HAS2 gene that was highly regulated in our library. We found that HAS2-AS1 express mainly in cumulus cells (CCs). Furthermore, HAS2-AS1 showed low expression in immature CCs and a significant increase expression in mature CCs. Functional studies reveal that inhibition of HAS2-AS1 by siRNA caused decrease expression of HAS2. Furthermore, inhibition of HAS2-AS1 by siRNA results in decrease migration of granulosa cells. Conclusions Our results suggest that HAS2-AS1 is an LH/hCG target gene that plays a positive role in HAS2 expression and thus might play a role in regulating cumulus expansion and migration
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