Literature DB >> 28716534

Mutations in TYROBP are not a common cause of dementia in a Turkish cohort.

Lee Darwent1, Susana Carmona1, Ebba Lohmann2, Gamze Guven3, Celia Kun-Rodrigues1, Basar Bilgic4, Hasmet Hanagasi4, Hakan Gurvit4, Nihan Erginel-Unaltuna3, Meltem Pak4, John Hardy1, Andrew Singleton5, Jose Brás6, Rita Guerreiro7.   

Abstract

Mutations in TYROBP and TREM2 have been shown to cause polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. Recently, variants in TREM2 were also associated with frontotemporal dementia and Alzheimer's disease. Given the functional proximity between these 2 genes, we investigated the genetic variation of TYROBP in a Turkish cohort of 103 dementia patients. No mutations or copy number variants predicted to be pathogenic were identified. These results indicate that mutations in TYROBP are not a common cause of dementia in this Turkish cohort.
Copyright © 2017 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Dementia; Genetic variant; TYROBP; Turkish cohort; Whole-exome sequencing; Whole-genome genotyping

Mesh：

Substances：

Year:  2017        PMID： 28716534      PMCID： PMC5985528          DOI： 10.1016/j.neurobiolaging.2017.06.019

Source DB:  PubMed          Journal:  Neurobiol Aging        ISSN： 0197-4580            Impact factor:   4.673


  7 in total

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Authors:  Bin Zhang; Chris Gaiteri; Liviu-Gabriel Bodea; Zhi Wang; Joshua McElwee; Alexei A Podtelezhnikov; Chunsheng Zhang; Tao Xie; Linh Tran; Radu Dobrin; Eugene Fluder; Bruce Clurman; Stacey Melquist; Manikandan Narayanan; Christine Suver; Hardik Shah; Milind Mahajan; Tammy Gillis; Jayalakshmi Mysore; Marcy E MacDonald; John R Lamb; David A Bennett; Cliona Molony; David J Stone; Vilmundur Gudnason; Amanda J Myers; Eric E Schadt; Harald Neumann; Jun Zhu; Valur Emilsson
Journal:  Cell       Date:  2013-04-25       Impact factor: 41.582

2.  Microglial immunoreceptor tyrosine-based activation and inhibition motif signaling in neuroinflammation.

Authors:  Bettina Linnartz; Yiner Wang; Harald Neumann
Journal:  Int J Alzheimers Dis       Date:  2010-06-22

3.  Variant of TREM2 associated with the risk of Alzheimer's disease.

Authors:  Thorlakur Jonsson; Hreinn Stefansson; Stacy Steinberg; Ingileif Jonsdottir; Palmi V Jonsson; Jon Snaedal; Sigurbjorn Bjornsson; Johanna Huttenlocher; Allan I Levey; James J Lah; Dan Rujescu; Harald Hampel; Ina Giegling; Ole A Andreassen; Knut Engedal; Ingun Ulstein; Srdjan Djurovic; Carla Ibrahim-Verbaas; Albert Hofman; M Arfan Ikram; Cornelia M van Duijn; Unnur Thorsteinsdottir; Augustine Kong; Kari Stefansson
Journal:  N Engl J Med       Date:  2012-11-14       Impact factor: 91.245

4.  Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement.

Authors:  Rita João Guerreiro; Ebba Lohmann; José Miguel Brás; Jesse Raphael Gibbs; Jonathan D Rohrer; Nicole Gurunlian; Burcu Dursun; Basar Bilgic; Hasmet Hanagasi; Hakan Gurvit; Murat Emre; Andrew Singleton; John Hardy
Journal:  JAMA Neurol       Date:  2013-01       Impact factor: 18.302

5.  TYROBP genetic variants in early-onset Alzheimer's disease.

Authors:  Cyril Pottier; Thomas A Ravenscroft; Patricia H Brown; NiCole A Finch; Matt Baker; Meeia Parsons; Yan W Asmann; Yingxue Ren; Elizabeth Christopher; Denise Levitch; Marka van Blitterswijk; Carlos Cruchaga; Dominique Campion; Gaël Nicolas; Anne-Claire Richard; Rita Guerreiro; Jose T Bras; Stephan Zuchner; Michael A Gonzalez; Guojun Bu; Steven Younkin; David S Knopman; Keith A Josephs; Joseph E Parisi; Ronald C Petersen; Nilüfer Ertekin-Taner; Neill R Graff-Radford; Bradley F Boeve; Dennis W Dickson; Rosa Rademakers
Journal:  Neurobiol Aging       Date:  2016-08-08       Impact factor: 4.673

Review 6.  TYROBP in Alzheimer's disease.

Authors:  Jing Ma; Teng Jiang; Lan Tan; Jin-Tai Yu
Journal:  Mol Neurobiol       Date:  2014-07-23       Impact factor: 5.590

7.  TREM2 variants in Alzheimer's disease.

Authors:  Rita Guerreiro; Aleksandra Wojtas; Jose Bras; Minerva Carrasquillo; Ekaterina Rogaeva; Elisa Majounie; Carlos Cruchaga; Celeste Sassi; John S K Kauwe; Steven Younkin; Lilinaz Hazrati; John Collinge; Jennifer Pocock; Tammaryn Lashley; Julie Williams; Jean-Charles Lambert; Philippe Amouyel; Alison Goate; Rosa Rademakers; Kevin Morgan; John Powell; Peter St George-Hyslop; Andrew Singleton; John Hardy
Journal:  N Engl J Med       Date:  2012-11-14       Impact factor: 91.245
  7 in total
  1 in total

1.  A comprehensive analysis of copy number variation in a Turkish dementia cohort.

Authors:  Nadia Dehghani; Gamze Guven; Celia Kun-Rodrigues; Catarina Gouveia; Kalina Foster; Hasmet Hanagasi; Ebba Lohmann; Bedia Samanci; Hakan Gurvit; Basar Bilgic; Jose Bras; Rita Guerreiro
Journal:  Hum Genomics       Date:  2021-07-28       Impact factor: 4.639
  1 in total

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