Cargando…

Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients

‘Microtubule-associated protein tau’ (MAPT), ‘granulin’ (GRN) and ‘chromosome 9 open reading frame72’ (C9ORF72) gene mutations are the major known genetic causes of frontotemporal dementia (FTD). Recent studies suggest that mutations in these genes may also be associated with other forms of dementia...

Descripción completa

Detalles Bibliográficos
Autores principales:	Guven, Gamze, Lohmann, Ebba, Bras, Jose, Gibbs, J. Raphael, Gurvit, Hakan, Bilgic, Basar, Hanagasi, Hasmet, Rizzu, Patrizia, Heutink, Peter, Emre, Murat, Erginel-Unaltuna, Nihan, Just, Walter, Hardy, John, Singleton, Andrew, Guerreiro, Rita
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2016
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5025192/ https://www.ncbi.nlm.nih.gov/pubmed/27632209 http://dx.doi.org/10.1371/journal.pone.0162592

Ejemplares similares

A novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family()
por: Guerreiro, Rita, et al.
Publicado: (2013)

PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism
por: Giri, Anamika, et al.
Publicado: (2016)

A comprehensive analysis of copy number variation in a Turkish dementia cohort
por: Dehghani, Nadia, et al.
Publicado: (2021)

Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia
por: Miedema, Suzanne S. M., et al.
Publicado: (2022)

Neuroimaging, Biomarkers, and Management of Dementia with Lewy Bodies
por: Hanagasi, Hasmet A., et al.
Publicado: (2013)

Deficiency of the frontotemporal dementia gene GRN results in gangliosidosis
por: Boland, Sebastian, et al.
Publicado: (2022)

Two pathologically confirmed cases of novel mutations in the MAPT gene causing frontotemporal dementia
por: Shafei, Rachelle, et al.
Publicado: (2020)

Modelling the cascade of biomarker changes in GRN-related frontotemporal dementia
por: Panman, Jessica L, et al.
Publicado: (2021)

Evaluation of Incidence and Clinical Features of Antibody-Associated Autoimmune Encephalitis Mimicking Dementia
por: Çoban, Arzu, et al.
Publicado: (2014)

Rates of Brain Atrophy Across Disease Stages in Familial Frontotemporal Dementia Associated With MAPT, GRN, and C9orf72 Pathogenic Variants
por: Staffaroni, Adam M., et al.
Publicado: (2020)

Genotype–Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review
por: Atasu, Burcu, et al.
Publicado: (2022)

Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease
por: Sassi, Celeste, et al.
Publicado: (2014)

Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations
por: Bouzigues, Arabella, et al.
Publicado: (2022)

Astroglial toxicity promotes synaptic degeneration in the thalamocortical circuit in frontotemporal dementia with GRN mutations
por: Marsan, Elise, et al.
Publicado: (2023)

Biochemical, biomarker, and behavioral characterization of the Grn(R493X) mouse model of frontotemporal dementia
por: Smith, Denise M., et al.
Publicado: (2023)

C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers
por: Rizzu, Patrizia, et al.
Publicado: (2016)

Frontotemporal Dementia-Parkinsonism Due to MAPT Gene Variant Presenting with Rest and Action Tremor
por: Bhattacharjee, Shakya, et al.
Publicado: (2023)

Case report: TMEM106B haplotype alters penetrance of GRN mutation in frontotemporal dementia family
por: Perneel, Jolien, et al.
Publicado: (2023)

The Right Temporal Variant of Frontotemporal Dementia Is Not Genetically Sporadic: A Case Series
por: Ulugut Erkoyun, Hulya, et al.
Publicado: (2021)

[(18)F]AV‐1451 PET in behavioral variant frontotemporal dementia due to MAPT mutation
por: Bevan Jones, W. Richard, et al.
Publicado: (2016)

Novel P397S MAPT variant associated with late onset and slow progressive frontotemporal dementia
por: Borrego‐Écija, Sergi, et al.
Publicado: (2019)

Characterizing the Clinical Features and Atrophy Patterns of MAPT-Related Frontotemporal Dementia With Disease Progression Modeling
por: Young, Alexandra L., et al.
Publicado: (2021)

Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains
por: Janssens, Jonathan, et al.
Publicado: (2015)

Intracellular Proteolysis of Progranulin Generates Stable, Lysosomal Granulins that Are Haploinsufficient in Patients with Frontotemporal Dementia Caused by GRN Mutations
por: Holler, Christopher J., et al.
Publicado: (2017)

Neuropathological and behavioral characterization of aged Grn R493X progranulin-deficient frontotemporal dementia knockin mice
por: Frew, Jonathan, et al.
Publicado: (2021)

Anticholinergic Burden, Polypharmacy, and Cognition in Parkinson's Disease Patients with Mild Cognitive Impairment: A Cross-Sectional Observational Study
por: Sumbul-Sekerci, Betul, et al.
Publicado: (2023)

Interaction between a MAPT variant causing frontotemporal dementia and mutant APP affects axonal transport
por: Adalbert, Robert, et al.
Publicado: (2018)

An autopsied FTDP-17 case with MAPT IVS 10 + 14C > T mutation presenting with frontotemporal dementia
por: Watanabe, Ryohei, et al.
Publicado: (2021)

Hereditary Frontotemporal Dementia Linked to the Pathogenic p.L266V Variant of the MAPT Gene in Korea
por: Sung, Wonjae, et al.
Publicado: (2021)

Disrupted myelin lipid metabolism differentiates frontotemporal dementia caused by GRN and C9orf72 gene mutations
por: Marian, Oana C., et al.
Publicado: (2023)

The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects
por: Blauwendraat, Cornelis, et al.
Publicado: (2018)

Trehalose upregulates progranulin expression in human and mouse models of GRN haploinsufficiency: a novel therapeutic lead to treat frontotemporal dementia
por: Holler, Christopher J., et al.
Publicado: (2016)

A multi-omics dataset for the analysis of frontotemporal dementia genetic subtypes
por: Menden, Kevin, et al.
Publicado: (2023)

Role of simvastatin and RORa activity in the macrophage apoptotic pathway
por: Çoban, Neslihan, et al.
Publicado: (2017)

Variation at GRN 3′-UTR rs5848 Is Not Associated with a Risk of Frontotemporal Lobar Degeneration in Dutch Population
por: Simón-Sánchez, Javier, et al.
Publicado: (2009)

Frontotemporal dementia
por: Warren, Jason D, et al.
Publicado: (2013)

A Novel MAPT Mutation, G55R, in a Frontotemporal Dementia Patient Leads to Altered Tau Function
por: Iyer, Abhinaya, et al.
Publicado: (2013)

MMP-9 and MMP-2 Contribute to Neuronal Cell Death in iPSC Models of Frontotemporal Dementia with MAPT Mutations
por: Biswas, Md Helal U., et al.
Publicado: (2016)

Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia
por: Rademakers, Rosa, et al.
Publicado: (2008)

Profiling of Ubiquitination Pathway Genes in Peripheral Cells from Patients with Frontotemporal Dementia due to C9ORF72 and GRN Mutations
por: Serpente, Maria, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_dg0kqk9k939mrn7les59gbj7cr