Autonomy and Performance of Foreign Subsidiaries in five Transition Countries

The paper analyses the link between the autonomy according to business function and the performance of foreign subsidiaries in Slovenia, Poland, Hungary, Slovakia and Estonia. The novelty of the paper is in the deeper investigation of the multidimensionality of autonomy. Using the method of principal components, four business function factors relating to autonomy were obtained (technology, marketing, management, finance). The results supported the argument that the relationship between autonomy and performance depends on the type of autonomy. Marketing and finance are the most powerful dimensions of autonomy. Higher autonomy in marketing is negatively linked with technology upgrading, measured by productivity level, improvement of technological level of production equipment, and quality of products. The higher the financial autonomy of the subsidiaries the bigger the positive changes in all fields of performance.http://deepblue.lib.umich.edu/bitstream/2027.42/40166/3/wp780.pd

Autonomy and Performance of Foreign Subsidiaries in five Transition Countries

The paper analyses the link between the autonomy according to business function and the performance of foreign subsidiaries in Slovenia, Poland, Hungary, Slovakia and Estonia. The novelty of the paper is in the deeper investigation of the multidimensionality of autonomy. Using the method of principal components, four business function factors relating to autonomy were obtained (technology, marketing, management, finance). The results supported the argument that the relationship between autonomy and performance depends on the type of autonomy. Marketing and finance are the most powerful dimensions of autonomy. Higher autonomy in marketing is negatively linked with technology upgrading, measured by productivity level, improvement of technological level of production equipment, and quality of products. The higher the financial autonomy of the subsidiaries the bigger the positive changes in all fields of performance.international technology transfer, FDI effects on the host economy, subsidiary autonomy, subsidiary performance, transition countries

Intellektipuude genoomsed põhjused: kogu-genoomi SNP genotüpiseerimisanalüüs Eesti patsientidel ja üldpopulatsioonis

Väitekirja elektrooniline versioon ei sisalda publikatsioone.Intellektipuue on raske arenguhäire, mis arenenud riikides esineb ligikaudse sagedusega 2% üldpopulatsioonist. Intellektipuude tekkepõhjused võivad olla väga erinevad ning ligi pooltel patsientidest on häire põhjus jäänud koguni teadmata. Viimastel aastatel teaduses kasutusele võetud kogu-genoomi analüüsimeetodid on näidanud, et inimgenoomis esinevad laialdaselt DNA koopiaarvu variatisoonid (CNV) - kromosoomsegmendid, mille koopiate arv on ümberkorralduse tõttu genoomis tavapärasest suurem või väiksem. On leitud, et CNV-d võivad olulisel osal patsientidest vastutada intellektipuude ja teiste kaasasündinud arenguhäirete eest ning olla riskifaktoriks erinevate komplekshaiguste kujunemisel. Samas esinevad CNV-d ka (näiliselt) tervetel inimestel, mis muudab nende kliinilise tähtsuse hindamise sageli keeruliseks ning enamuse CNV-de mõju inimese tervisele ja arengule on praegusel ajal veel ebaselge. Käesolev töö on esimene ulatuslik uurimus CNV-de haigusseoselisest rollist intellektipuudega Eesti perekondades. Kuna rea genoomsete muutuste puhul võib nende mõju haigustunnuste avaldumisele olla varieeruv, teostati CNV-de täpsema rolli analüüsimiseks sama uuring ka Tartu Ülikooli Eesti Geenivaramu geenidoonoritele. Töö tulemusena leiti 18 peres intellektipuuet põhjustav CNV ehk geneetiline diagnoos määrati 23% uuritud patsientidest, kellel seni oli nende haiguse põhjus teadmata. Eesti Geenivaramu geenidoonorite hulgast leiti neuropsühholoogiliste häiretega seotud CNV-d 19 indiviidil. Vastavalt Eesti Geenivaramu küsimustikule on enamus neist inimestest kannatanud aastaid erinevate tervisehäirete (näiteks tugev rasvumine, epilepsia, kõnearengu häired, depressioon, teised neuroloogilised ja psühhiaatrilised probleemid) teadmata, et nende genoomis esineb vastavate haiguste riski suurendavaid variatsioone. Samuti oli uuringuandmetel oluline roll kahe kromosoomregiooniga, 7q11.23 ja 16p11.2, seotud uute genoomsete sündroomide iseloomustamisel. Kokkuvõtlikult näitas käesolev uuring CNV-de olulist rolli neuropsühholoogiliste häirete kujunemisel ning genoomse analüüsi efektiivsust teaduses ja diagnostikas.Intellectual disability (ID) is a neurodevelopmental disorder with a population prevalence of approximately 2% and high socio-economical burden on the patients’ families and the society. Due to the heterogeneous aetiology of ID, disease-causative factors have remained unknown in about half of patients with cognitive impairment. Over the recent years, the biotechnological progress in human genomics has enabled a whole-genome approaches to study the genetic background of diseases and revealed small chromosomal gains and losses - DNA copy number variations (CNVs) - as one of the major contributors to the aetiology of developmental disorders. However, these CNVs can also be harmless variants in the human genome or act as susceptibility factors for common diseases and phenotypic traits. Moreover, numerous CNVs initially detected in patients with brain-related disorders also occur with lower frequency in apparently normal individuals. Thus, challenging the assessment of the consequence of CNVs on individual’s health and development. The current study was the first comprehensive effort to investigate genomic causes of cognitive impairment and associated complex phenotypes in Estonian patients with unexplained ID and general population individuals. As a result of the study, genetic diagnosis was established in 18 investigated families (the diagnostic yield of 23%) and rare CNVs of neuropsychological relevance were found in 19 Estonian general population individuals. By participating in collaborative investigations, the core clinical features were established for novel genomic disorders associated with regions 7q11.23 and 16p11.2 in the human genome. In summary, the results of this study demonstrated the importance of rare CNVs in the aetiology of neurodevelopmental disorders and proved that whole-genome screening for genomic rearrangments is an effective tool in research and diagnostics

ERAWATCH Country Report 2008 - An Assessment of Research System and Policies: Estonia

The main objective of ERAWATCH country reports 2008 is to characterise and assess the performance of national research systems and related policies in a structured manner that is comparable across countries. The reports are produced for each EU Member State to support the mutual learning process and the monitoring of Member States' efforts by DG Research in the context of the Lisbon Strategy and the European Research Area. In order to do so, the system analysis focuses on key processes relevant for system performance. Four policy-relevant domains of the research system are distinguished, namely resource mobilisation, knowledge demand, knowledge production and knowledge circulation. The reports are based on a synthesis of information from the ERAWATCH Research Inventory and other important available information sources.JRC.DG.J.3-Knowledge for Growt

Vaimse arengu mahajäämuse geneetilised põhjused: X-liiteline vaimse arengu mahajäämus

Üheks kõige sagedasemaks raske puude põhjuseks lastel ja noortel on vaimse arengu mahajäämus (VAM). Vaatamata sellele, et välja on töötatud palju erinevaid uurimis meetodeid, jääb enamik neist patsientidest praegugi veel täpse diagnoosita. Viimastel aastatel on uuringute tähelepanu keskpunkti tõusnud X-kromosoom, kuna on leitud, et võrreldes autosoomidega esineb X-kromosoomis märgatavalt rohkem geene, mis muteerununa põhjustavad VAMi. Artiklis on kirjeldatud teadaolevalt sagedasemaid X-liitelise vaimse arengu mahajäämuse sündroome ning toodud välja autismi seni leitud seosed X-liitelise VAMiga. Eesti Arst 2007; 86 (4): 239–24

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

Rolandic epilepsy (RE) is the most common idiopathic focal childhood epilepsy. Its molecular basis is largely unknown and a complex genetic etiology is assumed in the majority of affected individuals. The present study tested whether six large recurrent copy number variants at 1q21, 15q11.2, 15q13.3, 16p11.2, 16p13.11 and 22q11.2 previously associated with neurodevelopmental disorders also increase risk of RE. Our association analyses revealed a significant excess of the 600 kb genomic duplication at the 16p11.2 locus (chr16: 29.5-30.1 Mb) in 393 unrelated patients with typical (n = 339) and atypical (ARE; n = 54) RE compared with the prevalence in 65 046 European population controls (5/393 cases versus 32/65 046 controls; Fisher's exact test P = 2.83 × 10−6, odds ratio = 26.2, 95% confidence interval: 7.9-68.2). In contrast, the 16p11.2 duplication was not detected in 1738 European epilepsy patients with either temporal lobe epilepsy (n = 330) and genetic generalized epilepsies (n = 1408), suggesting a selective enrichment of the 16p11.2 duplication in idiopathic focal childhood epilepsies (Fisher's exact test P = 2.1 × 10−4). In a subsequent screen among children carrying the 16p11.2 600 kb rearrangement we identified three patients with RE-spectrum epilepsies in 117 duplication carriers (2.6%) but none in 202 carriers of the reciprocal deletion. Our results suggest that the 16p11.2 duplication represents a significant genetic risk factor for typical and atypical R

CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits

Funding Information: This research has been conducted using the UK Biobank Resource. This research has been conducted using the Danish National Biobank resource. The authors are grateful to the Raine Study participants and their families, and to the Raine Study research staff for cohort co-ordination and data collection. QIMR is grateful to the twins and their families for their generous participation in these studies. We would like to thank staff at the Queensland Institute of Medical Research: Anjali Henders, Dixie Statham, Lisa Bowdler, Ann Eldridge, and Marlene Grace for sample collection, processing and genotyping, Scott Gordon, Brian McEvoy, Belinda Cornes and Beben Benyamin for data QC and preparation, and David Smyth and Harry Beeby for IT support. HBCS Acknowledgements: We thank all study participants as well as everybody involved in the Helsinki Birth Cohort Study. Helsinki Birth Cohort Study has been supported by grants from the Academy of Finland, the Finnish Diabetes Research Society, Folkhälsan Research Foundation, Novo Nordisk Foundation, Finska Läkaresällskapet, Juho Vainio Foundation, Signe and Ane Gyllenberg Foundation, University of Helsinki, Ministry of Education, Ahokas Foundation, Emil Aaltonen Foundation. Finrisk study is grateful for the THL DNA laboratory for its skillful work to produce the DNA samples used in this study and thanks the Sanger Institute and FIMM genotyping facilities for genotyping the samples. We thank the MOLGENIS team and Genomics Coordination Center of the University Medical Center Groningen for software development and data management, in particular Marieke Bijlsma and Edith Adriaanse. This work was supported by the Leenards Foundation (to Z.K.), the Swiss National Science Foundation (31003A_169929 to Z.K., Sinergia grant CRSII33-133044 to AR), Simons Foundation (SFARI274424 to AR) and SystemsX.ch (51RTP0_151019 to Z.K.). A.R.W., H.Y. and T.M.F. are supported by the European Research Council grant: 323195:SZ-245. M.A.T., M.N.W. and An.M. are supported by the Wellcome Trust Institutional Strategic Support Award (WT097835MF). For full funding information of all participating cohorts see Supplementary Note 2. Publisher Copyright: © 2017 The Author(s).There are few examples of robust associations between rare copy number variants (CNVs) and complex continuous human traits. Here we present a large-scale CNV association meta-analysis on anthropometric traits in up to 191,161 adult samples from 26 cohorts. The study reveals five CNV associations at 1q21.1, 3q29, 7q11.23, 11p14.2, and 18q21.32 and confirms two known loci at 16p11.2 and 22q11.21, implicating at least one anthropometric trait. The discovered CNVs are recurrent and rare (0.01-0.2%), with large effects on height (> 2.4 cm), weight ( 5 kg), and body mass index (BMI) (> 3.5 kg/m(2)). Burden analysis shows a 0.41 cm decrease in height, a 0.003 increase in waist-to-hip ratio and increase in BMI by 0.14 kg/m2 for each Mb of total deletion burden (P = 2.5 x 10(-10), 6.0 x 10(-5), and 2.9 x 10(-3)). Our study provides evidence that the same genes (e.g., MC4R, FIBIN, and FMO5) harbor both common and rare variants affecting body size and that anthropometric traits share genetic loci with developmental and psychiatric disorders.Peer reviewe

A genome-wide association study of anorexia nervosa

Anorexia nervosa (AN) is a complex and heritable eating disorder characterized by dangerously low body weight. Neither candidate gene studies nor an initial genome wide association study (GWAS) have yielded significant and replicated results. We performed a GWAS in 2,907 cases with AN from 14 countries (15 sites) and 14,860 ancestrally matched controls as part of the Genetic Consortium for AN (GCAN) and the Wellcome Trust Case Control Consortium 3 (WTCCC3). Individual association analyses were conducted in each stratum and meta-analyzed across all 15 discovery datasets. Seventy-six (72 independent) SNPs were taken forward for in silico (two datasets) or de novo (13 datasets) replication genotyping in 2,677 independent AN cases and 8,629 European ancestry controls along with 458 AN cases and 421 controls from Japan. The final global meta-analysis across discovery and replication datasets comprised 5,551 AN cases and 21,080 controls. AN subtype analyses (1,606 AN restricting; 1,445 AN binge-purge) were performed. No findings reached genome-wide significance. Two intronic variants were suggestively associated: rs9839776 (P=3.01×10−7) in SOX2OT and rs17030795 (P=5.84×10−6) in PPP3CA. Two additional signals were specific to Europeans: rs1523921 (P=5.76×10−6) between CUL3 and FAM124B and rs1886797 (P=8.05×10−6) near SPATA13. Comparing discovery to replication results, 76% of the effects were in the same direction, an observation highly unlikely to be due to chance (P= 4×10−6), strongly suggesting that true findings exist but that our sample, the largest yet reported, was underpowered for their detection. The accrual of large genotyped AN case-control samples should be an immediate priority for the field