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dc.contributor.authorKarakahya, Oguzhan
dc.contributor.authorNorman, Utku
dc.contributor.authorOlgun, Gulden
dc.contributor.authorAkgun, Tahsin
dc.contributor.authorDurmus, Hacer
dc.contributor.authorSahin, Erdi
dc.contributor.authorGursoy, Esra Baar
dc.contributor.authorBABACAN YILDIZ, GÜLSEN
dc.contributor.authorİŞAK, BARIŞ
dc.contributor.authorULUÇ, KAYIHAN
dc.contributor.authorHanagasi, Hasmet
dc.contributor.authorTURGUT, NİLDA
dc.contributor.authorAysal, Fikret
dc.contributor.authorErtas, Mustafa
dc.contributor.authorBOZ, CAVİT
dc.contributor.authorKotan, Dilcan
dc.contributor.authorIdrisoglu, Halil
dc.contributor.authorSoysal, Aysun
dc.contributor.authorUZUN ADATEPE, Nurten
dc.contributor.authorAkalin, Mehmet Ali
dc.contributor.authorKOÇ, AYŞE FİLİZ
dc.contributor.authorTan, Ersin
dc.contributor.authorOflazer, Piraye
dc.contributor.authorDeymeer, Feza
dc.contributor.authorTastan, Oznur
dc.contributor.authorÇİÇEK, ABDULLAH ERCÜMENT
dc.contributor.authorKavak, Ersen
dc.contributor.authorParman, Yesim
dc.contributor.authorBasak, A. Nazli
dc.contributor.authorCakar, Arman
dc.contributor.authorBilgic, Basar
dc.contributor.authorTunca, Ceren
dc.contributor.authorSeker, Tuncay
dc.contributor.authorAkcimen, Fulya
dc.contributor.authorCoskun, Cemre
dc.contributor.authorBayraktar, Elif
dc.contributor.authorPalvadeau, Robin
dc.contributor.authorZor, Seyit
dc.contributor.authorKocoglu, Cemile
dc.contributor.authorKartal, Ece
dc.contributor.authorSen, Nesli Ece
dc.contributor.authorHamzeiy, Hamid
dc.contributor.authorErimis, Aslihan Ozoguz
dc.date.accessioned2021-03-02T17:27:26Z
dc.date.available2021-03-02T17:27:26Z
dc.date.issued2020
dc.identifier.citationTunca 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: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database", HUMAN MUTATION, cilt.41, 2020
dc.identifier.issn1059-7794
dc.identifier.othervv_1032021
dc.identifier.otherav_f4e5e7cd-c614-47b8-866e-b5e42ad440fa
dc.identifier.urihttp://hdl.handle.net/20.500.12627/3801
dc.identifier.urihttps://doi.org/10.1002/humu.24055
dc.description.abstractThe 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).
dc.language.isoeng
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.subjectGENETİK VE HAYAT
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.titleRevisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database
dc.typeMakale
dc.relation.journalHUMAN MUTATION
dc.contributor.departmentAfyon Kocatepe Üniversitesi , ,
dc.identifier.volume41
dc.identifier.issue8
dc.contributor.firstauthorID2282963


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