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

Tunca, C., Seker, T., Akcimen, F., Coskun, C., Bayraktar, E., Palvadeau, R., et al. (2020). Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database. HUMAN MUTATION. doi:10.1002/humu.24055.

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 Creators:
Tunca, Ceren1, Author
Seker, Tuncay1, Author
Akcimen, Fulya1, Author
Coskun, Cemre1, Author
Bayraktar, Elif1, Author
Palvadeau, Robin1, Author
Zor, Seyit1, Author
Kocoglu, Cemile1, Author
Kartal, Ece1, Author
Sen, Nesli Ece1, Author
Hamzeiy, Hamid2, Author              
Erimis, Aslihan Ozoguz1, Author
Norman, Utku1, Author
Karakahya, Oguzhan1, Author
Olgun, Gulden1, Author
Akgun, Tahsin1, Author
Durmus, Hacer1, Author
Sahin, Erdi1, Author
Cakar, Arman1, Author
Gursoy, Esra Baar1, Author
Yildiz, Gulsen Babacan1, AuthorIsak, Baris1, AuthorUluc, Kayihan1, AuthorHanagasi, Hasmet1, AuthorBilgic, Basar1, AuthorTurgut, Nilda1, AuthorAysal, Fikret1, AuthorErtas, Mustafa1, AuthorBoz, Cavit1, AuthorKotan, Dilcan1, AuthorIdrisoglu, Halil1, AuthorSoysal, Aysun1, AuthorAdatepe, Nurten Uzun1, AuthorAkalin, Mehmet Ali1, AuthorKoc, Filiz1, AuthorTan, Ersin1, AuthorOflazer, Piraye1, AuthorDeymeer, Feza1, AuthorTastan, Oznur1, AuthorCicek, A. Ercument1, AuthorKavak, Ersen1, AuthorParman, Yesim1, AuthorBasak, A. Nazli1, Author more..
Affiliations:
1external, ou_persistent22              
2Cox, Jürgen / Computational Systems Biochemistry, Max Planck Institute of Biochemistry, Max Planck Society, ou_2063284              

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Free keywords: AMYOTROPHIC-LATERAL-SCLEROSIS; MOTOR-NEURON DISEASE; SPINAL MUSCULAR-ATROPHY; CELL-CYCLE REGULATORS; COEXPRESSION NETWORK; SEQUENCE VARIATION; ANALYSES IDENTIFY; GENE-MUTATIONS; RISK; FORMALS; ALS variant database; genetics; clinical exome sequencing; coexpression network analysis; genetics; genome-wide association study; motor neuron disease; next generation sequencing; Turkish peninsula;
 Abstract: 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).

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Language(s): eng - English
 Dates: 2020
 Publication Status: Published online
 Pages: 39
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: ISI: 000542467300001
DOI: 10.1002/humu.24055
 Degree: -

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Title: HUMAN MUTATION
Source Genre: Journal
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Publ. Info: 111 RIVER ST, HOBOKEN 07030-5774, NJ USA : WILEY
Pages: - Volume / Issue: - Sequence Number: - Start / End Page: - Identifier: ISSN: 1059-7794