Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.P451L
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GRN

NM_002087.4:p.P451L

Associated Papers

Targeting Granulin Haploinsufficiency in Frontotemporal Dementia: From Genetic Mechanisms to Therapeutics.

Bagyinszky E et al.

International Journal of Molecular Sciences, 2025

Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.

Khani M et al.

Nature Communications, 2025

40813364 (PubMed )
Supplement: 41467_2025_62108_MOESM4_ESM.xlsx › Supplementary_Data_2

A new GRN variant in logopenic variant primary progressive aphasia: a case report and literature review.

Jia SS et al.

Neurocase, 2025

Biobank-scale characterization of Alzheimer's disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse ancestries.

Khani M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39606324 (PubMed )
Supplement: media-15.xlsx › Supplementary_Table_2

Genetic and clinical landscape of Chinese frontotemporal dementia: dominance of TBK1 and OPTN mutations.

Nan H et al.

Alzheimer's Research & Therapy, 2024

Behavioral variant frontotemporal dementia associated with GRN and ErbB4 gene mutations: a case report and literature review.

Cai Y et al.

Bmc Medical Genomics, 2024

Progranulin and GPNMB: interactions in endo-lysosome function and inflammation in neurodegenerative disease.

Gillett DA et al.

Journal of Neuroinflammation, 2023

Progranulin Gene Mutations in Chinese Patients with Frontotemporal Dementia: A Case Report and Literature Review.

Chu M et al.

Journal of Alzheimer's Disease : Jad, 2023

The Frequency of Genetic Mutations Associated With Behavioral Variant Frontotemporal Dementia in Chinese Han Patients.

Liu L et al.

Frontiers in Aging Neuroscience, 2021

Precision medicine of frontotemporal dementia: from genotype to phenotype.

Che XQ et al.

Frontiers in Bioscience (landmark Edition), 2018

Missense mutations in progranulin gene associated with frontotemporal lobar degeneration: study of pathogenetic features.

Karch CM et al.

Neurobiology of Aging, 2016

Progranulin reduction is associated with increased tau phosphorylation in P301L tau transgenic mice.

Hosokawa M et al.

Journal of Neuropathology and Experimental Neurology, 2015

Frontotemporal dementia: from Mendelian genetics towards genome wide association studies.

Ferrari R et al.

Journal of Molecular Neuroscience : Mn, 2011

A thorough assessment of benign genetic variability in GRN and MAPT.

Guerreiro RJ et al.

Human Mutation, 2010

Serum biomarker for progranulin-associated frontotemporal lobar degeneration.

Sleegers K et al.

Annals of Neurology, 2009

Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease.

Brouwers N et al.

Neurology, 2008

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."