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Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database

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العنوان: Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database
المؤلفون: Mehmet Ali Akalin, Cemre Coşkun, Oznur Tastan, Tahsin Akgün, Ersin Tan, Aslihan Ozoguz Erimis, Mustafa Ertas, Halil Atilla Idrisoglu, Aysun Soysal, Erdi Şahin, Hamid Hamzeiy, Yesim Parman, Filiz Koç, Başar Bilgiç, Hasmet Hanagasi, Arman Çakar, Esra Gürsoy, Feza Deymeer, Ece Kartal, Fikret Aysal, Seyit Zor, Gulsen Babacan Yildiz, Nilda Turgut, Baris Isak, Gulden Olgun, Robin Palvadeau, Cemile Kocoglu, Fulya Akçimen, Tuncay Seker, Ersen Kavak, Elif Bayraktar, Utku Norman, A. Nazli Basak, A. Ercument Cicek, Ceren Tunca, Oguzhan Karakahya, Piraye Oflazer, Nesli-Ece Sen, Nurten Uzun Adatepe, Kayihan Uluc, Hacer Durmus, Cavit Boz, Dilcan Kotan
المساهمون: BABACAN YILDIZ, GÜLSEN, Tunca, Ceren, Seker, Tuncay, Akcimen, Fulya, Coskun, Cemre, Bayraktar, Elif, Palvadeau, Robin, Zor, Seyit, Kocoglu, Cemile, Kartal, Ece, Sen, Nesli Ece, Hamzeiy, Hamid, Erimis, Aslihan Ozoguz, Norman, Utku, Karakahya, Oguzhan, Olgun, Gulden, Akgun, Tahsin, Durmus, Hacer, Sahin, Erdi, Cakar, Arman, Gursoy, Esra Baar, Yildiz, Gulsen Babacan, Isak, Baris, Uluc, Kayihan, Hanagasi, Hasmet, Bilgic, Basar, Turgut, Nilda, Aysal, Fikret, Ertas, Mustafa, Boz, Cavit, Kotan, Dilcan, Idrisoglu, Halil, Soysal, Aysun, Adatepe, Nurten Uzun, Akalin, Mehmet Ali, Koc, Filiz, Tan, Ersin, Oflazer, Piraye, Deymeer, Feza, Tastan, Oznur, Cicek, A. Ercument, Kavak, Ersen, Parman, Yesim, Basak, A. Nazli, Karakahya, Oğuzhan, Olgun, Gülden, Çiçek, A. Ercüment, İÜC, Cerrahpaşa Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü
المصدر: Human Mutation
سنة النشر: 2020
مصطلحات موضوعية: Turkey, Genome-wide association study, Gene mutation, AMYOTROPHIC-LATERAL-SCLEROSIS, ALS variant database, Cell-Cycle Regulators, Databases, Genetic, MOTOR-NEURON DISEASE, Coexpression Network, genetics, Genetics (clinical), Exome sequencing, Genetics, next generation sequencing, RISK, 0303 health sciences, education.field_of_study, Project MinE, 030305 genetics & heredity, SPINAL MUSCULAR-ATROPHY, Amyotrophic-Lateral-Sclerosis, clinical exome sequencing, Penetrance, 3. Good health, Phenotype, Spinal Muscular-Atrophy, Turkish peninsula, motor neuron disease, COEXPRESSION NETWORK, GENE-MUTATIONS, FORM, Risk, Genotype, Population, Locus (genetics), Biology, 03 medical and health sciences, Gene-Mutations, Sequence Variation, Analyses Identify, coexpression network analysis, SEQUENCE VARIATION, Humans, Expanding genotypes, shared phenotypes, molecular networks, and a public variant database-, HUMAN MUTATION, cilt.41, 2020 [Tunca C., Seker T., Akcimen F., Coskun C., Bayraktar E., Palvadeau R., Zor S., Kocoglu C., Kartal E., Sen N. E. , et al., -Revisiting the complex architecture of ALS in Turkey], education, Form, 030304 developmental biology, Genetic association, Internet, genome-wide association study, Whole Genome Sequencing, ANALYSES IDENTIFY, Amyotrophic Lateral Sclerosis, Motor-Neuron Disease, CELL-CYCLE REGULATORS, ALS
الوصف: Olgun, Gulden/0000-0002-4467-1610; Sahin, Erdi/0000-0002-5792-2888; Tastan, Oznur/0000-0001-7058-5372; Akcimen, Fulya/0000-0003-0931-5247; Kartal, Ece/0000-0002-7720-455X WOS:000542467300001 PubMed ID: 32579787 The last decade has proven that amyotrophic lateral sclerosis (ALS) is clinically and genetically heterogeneous, and that the genetic component in sporadic cases might be stronger than expected. This study investigates 1,200 patients to revisit ALS in the ethnically heterogeneous yet inbred Turkish population. Familial ALS (fALS) accounts for 20% of our cases. The rates of consanguinity are 30% in fALS and 23% in sporadic ALS (sALS). Major ALS genes explained the disease cause in only 35% of fALS, as compared with similar to 70% in Europe and North America. Whole exome sequencing resulted in a discovery rate of 42% (53/127). Whole genome analyses in 623 sALS cases and 142 population controls, sequenced within Project MinE, revealed well-established fALS gene variants, solidifying the concept of incomplete penetrance in ALS. Genome-wide association studies (GWAS) with whole genome sequencing data did not indicate a new risk locus. Coupling GWAS with a coexpression network of disease-associated candidates, points to a significant enrichment for cell cycle- and division-related genes. Within this network, literature text-mining highlightsDECR1, ATL1, HDAC2, GEMIN4, andHNRNPA3as important genes. Finally, information on ALS-related gene variants in the Turkish cohort sequenced within Project MinE was compiled in the GeNDAL variant browser (www.gendal.org). TUBITAKTurkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK) [109S075]; Bogazici University Research FundsBogazici University [15B01P1]; Suna and Inan Kirac Foundation [2005-2020] TUBITAK, Grant/Award Number: 109S075; Bogazici University Research Funds, Grant/Award Number: 15B01P1; Suna and Inan Kirac Foundation, Grant/Award Number: 2005-2020
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54aef9b9d80c46be68614b3500ccd9db
http://hdl.handle.net/20.500.12645/18569
حقوق: OPEN
رقم الأكسشن: edsair.doi.dedup.....54aef9b9d80c46be68614b3500ccd9db
قاعدة البيانات: OpenAIRE
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