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apps Other research product2022 Indonesia IndonesianUniversitas Bhayangkara Jakarta Raya Authors: Rumadanu, F. (Friko); Masri, E. (Esther); Handayani, O. (Otih);Rumadanu, F. (Friko); Masri, E. (Esther); Handayani, O. (Otih);Notaris saat ini diperbolehkan melakukan sertifikasi dokumen elektronik. Kewenangan ini termaktub dalam Pasal 15 ayat (3) Undang-Undang Nomor 2 Tahun 2014 Tentang Jabatan Notaris. Selain mengesahkan akta, notaris juga dapat menyimpan berkas dalam bentuk file. Namun, tidak sedikit notaris yang masih enggan menggunakan teknologi untuk membuat dan mengesahkan sebuah akta dikarenakan adanya pertentangan antar pasal baik dalam Undang-Undang Jabatan Notaris sendiri maupun dengan pasal dalam Undang-Undang lainnya. Penelitian ini bertujuan untuk mengetahui apakah akta yang menggunakan teknologi informatika memiliki kekuatan pembuktian layaknya akta autentik dan apakah sertifikasi elektronik yang dilakukan oleh notaris sejalan dengan tugas dan jabatan notaris. Metode penelitian yang digunakan yaitu jenis penelitian hukum normatif yang dilakukan dengan cara penelaahan bahan pustaka atau data sekunder dengan menggunakan pendekatan undang-undang dan pendekatan konseptual. Penelitian ini berfokus pada akta hasil Rapat Umum Pemegang Saham Luar Biasa PT. Lippo Karawaci. Tbk yang dilakukan melalui video konferensi pada tanggal 13 Oktober 2021. Adanya ketidaksepakatan dari beberapa pemegang saham atas sertifikasi yang dilakukan secara elektronik karena dinilai dapat membuat akta tersebut menjadi akta di bawah tangan. Selain adanya pertentangan antara pasal, hal ini juga disebabkan tidak adanya peraturan pelaksana terkait pembuatan akta melalui teknologi informasi (Cyber Notary) oleh notaris sehingga perlunya pengkajian ulang terhadap Undang-Undang terkait dan pembuatan peraturan pelaksana khusus cyber notary.
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For further information contact us at helpdesk@openaire.euapps Other research productkeyboard_double_arrow_right Other ORP type 2020 EnglishmedRxiv NIH | The Electronic Medical Re..., NIH | Modifier Genes that Influ..., NIH | Consequences of Self-Negl... +108 projectsNIH| The Electronic Medical Records and Genomics (eMERGE) Network, Phase III ,NIH| Modifier Genes that Influence Age at Onset or Protect Against Development of Alzheimer's Disease (AD) ,NIH| Consequences of Self-Neglect in a Biracial Population of Older People ,NIH| Sequence-based Discovery of AD Risk & Protective Alleles ,NIH| Clinical Core ,NIH| Large Scale Genome Sequencing ,NIH| ROLE FOR FIBROBLAST GROWTH FACTOR IN ALZHEIMERS DISEASE ,NIH| Multi-ethnic genome-wide Alzheimer association study ,NIH| ARIC Neurocognitive Study (ARIC-NCS) ,NIH| ALZHEIMERS DISEASE RESEARCH CENTER ,NIH| A Proteogenomic Approach to Understanding AD GWAS Results ,NIH| CORONARY HEART DISEASE AND STROKE ,NIH| CORONARY HEART DISEASE &STROKE IN PEOPLE AGED 65-84 ,NIH| Role of LRP &its ligand tPA in LTP &aging ,ANR| GENMED ,NIH| Statistical Methods for Next-Gen Sequencing in Disease Association Studies ,NWO| 100-plus ,NWO| 100-plus ,NIH| Building Research Infrastructure &Network in Chicago Chinatown ,CIHR ,NIH| Genetic Studies of Alzheimer's Disease in Caribbean Hispanics ,NIH| UCLA Alzheimers Disease Research Center ,NIH| Genetic Studies of Alzheimer Disease in Koreans ,NIH| Alzheimers Disease in Mild Cognitive Impairment ,NIH| CHS-Transition Phase -268055222 ,NIH| Administrative Core ,NIH| GENETIC DIFFERENCES IN ALZHEIMERS CASES AND CONTROLS ,NIH| CHARGE consortium: gene discovery for CVD and aging phenotypes ,NIH| Alzheimers Disease and Gene Discovery on Chromosome 9 ,NIH| GENETIC EPIDEMIOLOGICAL STUDIES OF ALZHEIMERS DISEASE ,NWO| NCHA Subsidiebesluit 2008-2012 ,NIH| GENES, AGING, LEARNING AND DEMENTIA ,NIH| CORONARY HEART DISEASE &STROKE IN PEOPLE AGED 65-84 ,NIH| Gene discovery in PSP by transcriptome, neuropathology and sequence analysis ,NIH| Genomes and Genetics at the BCM-HGSC ,NIH| Mayo Alzheimers Disease Research Center ,NIH| CORE--CLINICAL ,NIH| Genetic Epidemiology of Alzheimers Disease in African Americans ,NIH| Genetic Epidemiology of Early-Onset Alzheimers disease in Caribbean Hispanics and non-Hispanic Whites ,NIH| Risk Factors, Pathology, and Clinical Expressions of AD ,NIH| ARIC Neurocognitive Study (ARIC-NCS) ,NIH| Genome wide association study of gene expression levels in Alzheimers disease ,NIH| Consortium for Alzheimers Sequence Analysis (CASA) ,NIH| Metabolic Factors in AD ,FWF| Genetics of Cerebral Small Vessel Disease ,NIH| Genomic Convergence in Alzheimer Disease ,NIH| DATA MANAGEMENT AND BIOSTATISTICS ,NIH| Epidemiologic Study of Neural Reserve and Neurobiology of Aging ,NIH| Replication and Extension of ADSP Discoveries in African-Americans ,NIH| AMYLOID DEPOSTION, VASCULAR DISEASE AND CLINICAL PROGRESSION OF AD ,NIH| CORONARY HEART DISEASE AND STROKE ,NIH| ALZHEIMERS DISEASE AND ANIMAL MODELS ,FWF| MRI white matter abnormalities in the elderly: Genetic risk factors, rate of progression and neuropsychologic consequences ,NIH| Large Scale Sequencing and Analysis of Genomes ,NIH| THE FRAMINGHAM HEART STUDY-268025195 ,NIH| Stanford Alzheimer's Disease Research Center ,NIH| Next Generation gene discovery in neurogenetics ,NIH| CENTRAL BLOOD ANALYSIS LABORATORY FOR CHS ,NIH| Alzheimers Disease Center Core ,NIH| Genetic Studies of Dementia in the Amish ,NIH| A system approach to targeting innate immunity in AD ,NIH| RISK FACTORS FOR INCIDENT AD IN A BIRACIAL COMMUNITY ,NIH| Collaborative GWAS of Dementia, AD and related MRI and Cognitive Endophenotypes ,NIH| Boston University Alzheimer's Disease Center ,NIH| CHS research resources for the cardiovascular health of older adults ,NIH| Exceptional aging: 12 year trajectories to function ,NIH| Coordinating Center for Genetics and Genomics of Alzheimer's Disease (CGAD) ,NIH| CORE--CLINICAL ,NIH| QUANTITATIVE INDICES OF NEURON VULNERABILITY IN DEMENTIA ,NIH| THE NIA GENETICS OF ALZHEIMER'S DISEASE DATA STORAGE SITE ,NIH| ALZHEIMERS DISEASE DATA COORDINATING CENTER ,NIH| SHORT-TERM STABILITY OF CLINICAL TESTS ,NIH| CORE-- EDUCATION AND INFORMATION TRANSFER ,NIH| CHS Events Follow-up Study ,NIH| ARIC Neurocognitive Study (ARIC-NCS) ,NWO| Dissecting genetic complexity of Alzheimer's disease and cognitive function ,WT| BRAINEACv2: a resource for the interpretation of genetic variation in multiple regions of the adult human brain ,NIH| CORE--CLINICAL ,NIH| CHARGE: Identifying Risk & Protective SNV for AD in ADSP Case-control Sample ,NIH| The ARIC and Neurocognitive Longitudinal Study ,NIH| MRI, Cognitive, Genetic and Biomarker Precursors of AD & Dementia in Young Adults ,NIH| Building on GWAS for NHLBI-disease: the CHARGE consortium ,NIH| Integrative translational discovery of vascular risk factors in aging and dementia ,NIH| The National Institute on Aging (NIA) Late Onset of Alzheimer's Disease (LOAD) Family-Based Study (FBS) ,NIH| EDUCATION AND INFORMATION CORE ,EC| ENGAGE ,NIH| ADSP Follow-up in Multi-Ethnic Cohorts via Endophenotypes, Omics & Model Systems ,NIH| Temporal Trends, Novel Imaging and Molecular Characterization of Preclinical and Clinical Alzheimer's Disease in the Framingham Cohorts ,NIH| COGNITIVE TESTS, APOE, BRAIN MRI AND RISKS OF DEMENTIA ,NIH| Clinical Core ,NIH| Epidemiology of Familial Late-Onset Alzheimer's Disease ,NIH| Pleiotropy GWAS of Alzheimer's Disease ,NIH| Whole Genome Sequencing in Ethnically Diverse Cohorts for the ADSP Follow-Up Study (FUS) ,FWF| Mechanisms of Small Vessel Related Brain Damage and Cognitive Impairment ,NIH| INDIANAPOLIS/IBADAN DEMENTIA PROJECT ,NIH| Admin Supplement for University of Florida -Mt. Sinai Medical Center AD Research Center ,NIH| Clinical Core ,NIH| Sequence-based Discovery of AD Risk & Protective Alleles ,NIH| Alzheimer Disease Genetic Architecture in African Americans ,NIH| UC Davis Alzheimer's Core Center ,NIH| Identification and characterization of AD risk networks using multi-dimensional 'omics' data ,NIH| Alzheimer's Disease Genetics Consortium ,NIH| CORE--NEUROPATHOLOGY CORE ,NIH| GENETIC LINKAGE STUDIES IN NEUROGENETIC DISORDERS ,NIH| An Integrated Genomic Approach to Alzheimer Disease ,NIH| PRECURSORS OF STROKE INCIDENCE AND PROGNOSIS ,NIH| Genomic and Biological Studies of APOE ?2 in Alzheimer Disease ,NIH| National Cell Repository for Alzheimer's Disease (NCRAD) ,NIH| ALZHEIMERS DISEASE RESEARCH CENTER ,NIH| Genetic Epidemiology and Multi-Omics Analyses in Familial and Sporadic Alzheimer's Disease Among Secular Caribbean Hispanics and Religious Order ,NIH| Education and Information Transfer CoreHolstege, Henne; Grozeva, Detelina; Sims, Rebecca; Luckcuck, Lauren; Denning, Nicola; Marshall, Rachel; Saad, Salha; Williams, Julie; Meggy, Alun; Lambert, Jean-Charles; Hulsman, M.; Charbonnier, C.; Grenier-Boley, B.; Quenez, O.; van Rooij, J.; Ahmad, S.; Amin, N.; Norsworthy, P.; Dols, O.; Hummerich, H.; Kawalia, A.; Amouyel, P.; Beecham, G.; Berr, C.; Bis, J.; Boland, A.; Bossu, P.; Bouwman, F.; Campion, D.; Daniele, A.; Dartigues, J. F.; Debette, S.; Deleuze, J. F.; Destefano, A.; Farrer, L.; Fox, N.; Glimberti, D.; Genin, E.; Haines, J.; Holmes, C.; Arfan Ikram, M.; Ikram, M.; Jansen, I.; Kraaij, R.; Lathrop, M.; Lemstra, A.; Lleo, A.; Luckcuck, L.; Marschall, R.; Martin, E.; Masullo, C.; Mayeux, R.; Mecocci, P.; Mol, M.; Morgan, K.; Nacmia, B.; Naj, A.; Pastor, P.; Pericak-Vance, M.; Redon, R; Richard, A. C.; Riedel-Heller, S.; Rivadeneira, F.; Rousseau, S.; Ryan, N.; Sanchez-Juan, P.; Schellenberg, G.; Scheltens, P.; Scott, J.; Seripa, D.; Spalletta, G.; Tijms, B.; Uitterlinden, A.; van der Lee, S.; Wagner, M.; Wallon, D.; Wang, L. S.; Zarea, A.; Reinders, M.; Clarimon, J.; van Swieten, J.; Hardy, J.; Ramirez, A.; Mead, S. H.; van der Flier, W.; van Duijn, C.; Nicolas, G.; Bellenguez, C.; Lambert, J. C.;The genetic component of Alzheimer’s disease (AD) has been mainly assessed using Genome Wide Association Studies (GWAS), which do not capture the risk contributed by rare variants. Here, we compared the gene-based burden of rare damaging variants in exome sequencing data from 32,558 individuals —16,036 AD cases and 16,522 controls— in a two-stage analysis. Next to known genes TREM2, SORL1 and ABCA7, we observed a significant association of rare, predicted damaging variants in ATP8B4 and ABCA1 with AD risk, and a suggestive signal in ADAM10. Next to these genes, the rare variant burden in RIN3, CLU, ZCWPW1 and ACE highlighted these genes as potential driver genes in AD-GWAS loci. Rare damaging variants in these genes, and in particular loss-of-function variants, have a large effect on AD-risk, and they are enriched in early onset AD cases. The newly identified AD-associated genes provide additional evidence for a major role for APP-processing, Aβ-aggregation, lipid metabolism and microglial function in AD.
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For further information contact us at helpdesk@openaire.euapps Other research productkeyboard_double_arrow_right Other ORP type 2010 Portugal English FCT | LA 1, FCT | LA 14FCT| LA 1 ,FCT| LA 14Authors: Pereira, Ivo; Madureira, Ana Maria;Pereira, Ivo; Madureira, Ana Maria;handle: 10400.22/1466
Scheduling is a critical function that is present throughout many industries and applications. A great need exists for developing scheduling approaches that can be applied to a number of different scheduling problems with significant impact on performance of business organizations. A challenge is emerging in the design of scheduling support systems for manufacturing environments where dynamic adaptation and optimization become increasingly important. At this scenario, self-optimizing arise as the ability of the agent to monitor its state and performance and proactively tune itself to respond to environmental stimuli.
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apps Other research product2022 Indonesia IndonesianUniversitas Bhayangkara Jakarta Raya Authors: Rumadanu, F. (Friko); Masri, E. (Esther); Handayani, O. (Otih);Rumadanu, F. (Friko); Masri, E. (Esther); Handayani, O. (Otih);Notaris saat ini diperbolehkan melakukan sertifikasi dokumen elektronik. Kewenangan ini termaktub dalam Pasal 15 ayat (3) Undang-Undang Nomor 2 Tahun 2014 Tentang Jabatan Notaris. Selain mengesahkan akta, notaris juga dapat menyimpan berkas dalam bentuk file. Namun, tidak sedikit notaris yang masih enggan menggunakan teknologi untuk membuat dan mengesahkan sebuah akta dikarenakan adanya pertentangan antar pasal baik dalam Undang-Undang Jabatan Notaris sendiri maupun dengan pasal dalam Undang-Undang lainnya. Penelitian ini bertujuan untuk mengetahui apakah akta yang menggunakan teknologi informatika memiliki kekuatan pembuktian layaknya akta autentik dan apakah sertifikasi elektronik yang dilakukan oleh notaris sejalan dengan tugas dan jabatan notaris. Metode penelitian yang digunakan yaitu jenis penelitian hukum normatif yang dilakukan dengan cara penelaahan bahan pustaka atau data sekunder dengan menggunakan pendekatan undang-undang dan pendekatan konseptual. Penelitian ini berfokus pada akta hasil Rapat Umum Pemegang Saham Luar Biasa PT. Lippo Karawaci. Tbk yang dilakukan melalui video konferensi pada tanggal 13 Oktober 2021. Adanya ketidaksepakatan dari beberapa pemegang saham atas sertifikasi yang dilakukan secara elektronik karena dinilai dapat membuat akta tersebut menjadi akta di bawah tangan. Selain adanya pertentangan antara pasal, hal ini juga disebabkan tidak adanya peraturan pelaksana terkait pembuatan akta melalui teknologi informasi (Cyber Notary) oleh notaris sehingga perlunya pengkajian ulang terhadap Undang-Undang terkait dan pembuatan peraturan pelaksana khusus cyber notary.
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For further information contact us at helpdesk@openaire.euapps Other research productkeyboard_double_arrow_right Other ORP type 2020 EnglishmedRxiv NIH | The Electronic Medical Re..., NIH | Modifier Genes that Influ..., NIH | Consequences of Self-Negl... +108 projectsNIH| The Electronic Medical Records and Genomics (eMERGE) Network, Phase III ,NIH| Modifier Genes that Influence Age at Onset or Protect Against Development of Alzheimer's Disease (AD) ,NIH| Consequences of Self-Neglect in a Biracial Population of Older People ,NIH| Sequence-based Discovery of AD Risk & Protective Alleles ,NIH| Clinical Core ,NIH| Large Scale Genome Sequencing ,NIH| ROLE FOR FIBROBLAST GROWTH FACTOR IN ALZHEIMERS DISEASE ,NIH| Multi-ethnic genome-wide Alzheimer association study ,NIH| ARIC Neurocognitive Study (ARIC-NCS) ,NIH| ALZHEIMERS DISEASE RESEARCH CENTER ,NIH| A Proteogenomic Approach to Understanding AD GWAS Results ,NIH| CORONARY HEART DISEASE AND STROKE ,NIH| CORONARY HEART DISEASE &STROKE IN PEOPLE AGED 65-84 ,NIH| Role of LRP &its ligand tPA in LTP &aging ,ANR| GENMED ,NIH| Statistical Methods for Next-Gen Sequencing in Disease Association Studies ,NWO| 100-plus ,NWO| 100-plus ,NIH| Building Research Infrastructure &Network in Chicago Chinatown ,CIHR ,NIH| Genetic Studies of Alzheimer's Disease in Caribbean Hispanics ,NIH| UCLA Alzheimers Disease Research Center ,NIH| Genetic Studies of Alzheimer Disease in Koreans ,NIH| Alzheimers Disease in Mild Cognitive Impairment ,NIH| CHS-Transition Phase -268055222 ,NIH| Administrative Core ,NIH| GENETIC DIFFERENCES IN ALZHEIMERS CASES AND CONTROLS ,NIH| CHARGE consortium: gene discovery for CVD and aging phenotypes ,NIH| Alzheimers Disease and Gene Discovery on Chromosome 9 ,NIH| GENETIC EPIDEMIOLOGICAL STUDIES OF ALZHEIMERS DISEASE ,NWO| NCHA Subsidiebesluit 2008-2012 ,NIH| GENES, AGING, LEARNING AND DEMENTIA ,NIH| CORONARY HEART DISEASE &STROKE IN PEOPLE AGED 65-84 ,NIH| Gene discovery in PSP by transcriptome, neuropathology and sequence analysis ,NIH| Genomes and Genetics at the BCM-HGSC ,NIH| Mayo Alzheimers Disease Research Center ,NIH| CORE--CLINICAL ,NIH| Genetic Epidemiology of Alzheimers Disease in African Americans ,NIH| Genetic Epidemiology of Early-Onset Alzheimers disease in Caribbean Hispanics and non-Hispanic Whites ,NIH| Risk Factors, Pathology, and Clinical Expressions of AD ,NIH| ARIC Neurocognitive Study (ARIC-NCS) ,NIH| Genome wide association study of gene expression levels in Alzheimers disease ,NIH| Consortium for Alzheimers Sequence Analysis (CASA) ,NIH| Metabolic Factors in AD ,FWF| Genetics of Cerebral Small Vessel Disease ,NIH| Genomic Convergence in Alzheimer Disease ,NIH| DATA MANAGEMENT AND BIOSTATISTICS ,NIH| Epidemiologic Study of Neural Reserve and Neurobiology of Aging ,NIH| Replication and Extension of ADSP Discoveries in African-Americans ,NIH| AMYLOID DEPOSTION, VASCULAR DISEASE AND CLINICAL PROGRESSION OF AD ,NIH| CORONARY HEART DISEASE AND STROKE ,NIH| ALZHEIMERS DISEASE AND ANIMAL MODELS ,FWF| MRI white matter abnormalities in the elderly: Genetic risk factors, rate of progression and neuropsychologic consequences ,NIH| Large Scale Sequencing and Analysis of Genomes ,NIH| THE FRAMINGHAM HEART STUDY-268025195 ,NIH| Stanford Alzheimer's Disease Research Center ,NIH| Next Generation gene discovery in neurogenetics ,NIH| CENTRAL BLOOD ANALYSIS LABORATORY FOR CHS ,NIH| Alzheimers Disease Center Core ,NIH| Genetic Studies of Dementia in the Amish ,NIH| A system approach to targeting innate immunity in AD ,NIH| RISK FACTORS FOR INCIDENT AD IN A BIRACIAL COMMUNITY ,NIH| Collaborative GWAS of Dementia, AD and related MRI and Cognitive Endophenotypes ,NIH| Boston University Alzheimer's Disease Center ,NIH| CHS research resources for the cardiovascular health of older adults ,NIH| Exceptional aging: 12 year trajectories to function ,NIH| Coordinating Center for Genetics and Genomics of Alzheimer's Disease (CGAD) ,NIH| CORE--CLINICAL ,NIH| QUANTITATIVE INDICES OF NEURON VULNERABILITY IN DEMENTIA ,NIH| THE NIA GENETICS OF ALZHEIMER'S DISEASE DATA STORAGE SITE ,NIH| ALZHEIMERS DISEASE DATA COORDINATING CENTER ,NIH| SHORT-TERM STABILITY OF CLINICAL TESTS ,NIH| CORE-- EDUCATION AND INFORMATION TRANSFER ,NIH| CHS Events Follow-up Study ,NIH| ARIC Neurocognitive Study (ARIC-NCS) ,NWO| Dissecting genetic complexity of Alzheimer's disease and cognitive function ,WT| BRAINEACv2: a resource for the interpretation of genetic variation in multiple regions of the adult human brain ,NIH| CORE--CLINICAL ,NIH| CHARGE: Identifying Risk & Protective SNV for AD in ADSP Case-control Sample ,NIH| The ARIC and Neurocognitive Longitudinal Study ,NIH| MRI, Cognitive, Genetic and Biomarker Precursors of AD & Dementia in Young Adults ,NIH| Building on GWAS for NHLBI-disease: the CHARGE consortium ,NIH| Integrative translational discovery of vascular risk factors in aging and dementia ,NIH| The National Institute on Aging (NIA) Late Onset of Alzheimer's Disease (LOAD) Family-Based Study (FBS) ,NIH| EDUCATION AND INFORMATION CORE ,EC| ENGAGE ,NIH| ADSP Follow-up in Multi-Ethnic Cohorts via Endophenotypes, Omics & Model Systems ,NIH| Temporal Trends, Novel Imaging and Molecular Characterization of Preclinical and Clinical Alzheimer's Disease in the Framingham Cohorts ,NIH| COGNITIVE TESTS, APOE, BRAIN MRI AND RISKS OF DEMENTIA ,NIH| Clinical Core ,NIH| Epidemiology of Familial Late-Onset Alzheimer's Disease ,NIH| Pleiotropy GWAS of Alzheimer's Disease ,NIH| Whole Genome Sequencing in Ethnically Diverse Cohorts for the ADSP Follow-Up Study (FUS) ,FWF| Mechanisms of Small Vessel Related Brain Damage and Cognitive Impairment ,NIH| INDIANAPOLIS/IBADAN DEMENTIA PROJECT ,NIH| Admin Supplement for University of Florida -Mt. Sinai Medical Center AD Research Center ,NIH| Clinical Core ,NIH| Sequence-based Discovery of AD Risk & Protective Alleles ,NIH| Alzheimer Disease Genetic Architecture in African Americans ,NIH| UC Davis Alzheimer's Core Center ,NIH| Identification and characterization of AD risk networks using multi-dimensional 'omics' data ,NIH| Alzheimer's Disease Genetics Consortium ,NIH| CORE--NEUROPATHOLOGY CORE ,NIH| GENETIC LINKAGE STUDIES IN NEUROGENETIC DISORDERS ,NIH| An Integrated Genomic Approach to Alzheimer Disease ,NIH| PRECURSORS OF STROKE INCIDENCE AND PROGNOSIS ,NIH| Genomic and Biological Studies of APOE ?2 in Alzheimer Disease ,NIH| National Cell Repository for Alzheimer's Disease (NCRAD) ,NIH| ALZHEIMERS DISEASE RESEARCH CENTER ,NIH| Genetic Epidemiology and Multi-Omics Analyses in Familial and Sporadic Alzheimer's Disease Among Secular Caribbean Hispanics and Religious Order ,NIH| Education and Information Transfer CoreHolstege, Henne; Grozeva, Detelina; Sims, Rebecca; Luckcuck, Lauren; Denning, Nicola; Marshall, Rachel; Saad, Salha; Williams, Julie; Meggy, Alun; Lambert, Jean-Charles; Hulsman, M.; Charbonnier, C.; Grenier-Boley, B.; Quenez, O.; van Rooij, J.; Ahmad, S.; Amin, N.; Norsworthy, P.; Dols, O.; Hummerich, H.; Kawalia, A.; Amouyel, P.; Beecham, G.; Berr, C.; Bis, J.; Boland, A.; Bossu, P.; Bouwman, F.; Campion, D.; Daniele, A.; Dartigues, J. F.; Debette, S.; Deleuze, J. F.; Destefano, A.; Farrer, L.; Fox, N.; Glimberti, D.; Genin, E.; Haines, J.; Holmes, C.; Arfan Ikram, M.; Ikram, M.; Jansen, I.; Kraaij, R.; Lathrop, M.; Lemstra, A.; Lleo, A.; Luckcuck, L.; Marschall, R.; Martin, E.; Masullo, C.; Mayeux, R.; Mecocci, P.; Mol, M.; Morgan, K.; Nacmia, B.; Naj, A.; Pastor, P.; Pericak-Vance, M.; Redon, R; Richard, A. C.; Riedel-Heller, S.; Rivadeneira, F.; Rousseau, S.; Ryan, N.; Sanchez-Juan, P.; Schellenberg, G.; Scheltens, P.; Scott, J.; Seripa, D.; Spalletta, G.; Tijms, B.; Uitterlinden, A.; van der Lee, S.; Wagner, M.; Wallon, D.; Wang, L. S.; Zarea, A.; Reinders, M.; Clarimon, J.; van Swieten, J.; Hardy, J.; Ramirez, A.; Mead, S. H.; van der Flier, W.; van Duijn, C.; Nicolas, G.; Bellenguez, C.; Lambert, J. C.;The genetic component of Alzheimer’s disease (AD) has been mainly assessed using Genome Wide Association Studies (GWAS), which do not capture the risk contributed by rare variants. Here, we compared the gene-based burden of rare damaging variants in exome sequencing data from 32,558 individuals —16,036 AD cases and 16,522 controls— in a two-stage analysis. Next to known genes TREM2, SORL1 and ABCA7, we observed a significant association of rare, predicted damaging variants in ATP8B4 and ABCA1 with AD risk, and a suggestive signal in ADAM10. Next to these genes, the rare variant burden in RIN3, CLU, ZCWPW1 and ACE highlighted these genes as potential driver genes in AD-GWAS loci. Rare damaging variants in these genes, and in particular loss-of-function variants, have a large effect on AD-risk, and they are enriched in early onset AD cases. The newly identified AD-associated genes provide additional evidence for a major role for APP-processing, Aβ-aggregation, lipid metabolism and microglial function in AD.
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For further information contact us at helpdesk@openaire.euapps Other research productkeyboard_double_arrow_right Other ORP type 2010 Portugal English FCT | LA 1, FCT | LA 14FCT| LA 1 ,FCT| LA 14Authors: Pereira, Ivo; Madureira, Ana Maria;Pereira, Ivo; Madureira, Ana Maria;handle: 10400.22/1466
Scheduling is a critical function that is present throughout many industries and applications. A great need exists for developing scheduling approaches that can be applied to a number of different scheduling problems with significant impact on performance of business organizations. A challenge is emerging in the design of scheduling support systems for manufacturing environments where dynamic adaptation and optimization become increasingly important. At this scenario, self-optimizing arise as the ability of the agent to monitor its state and performance and proactively tune itself to respond to environmental stimuli.
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