Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.Q341*
Back to variants list

GRN

NM_002087.4:p.Q341*

Associated Papers

Unveiling New Genetic Variants Associated with Age at Onset in Alzheimer's Disease and Frontotemporal Lobar Degeneration Due to C9orf72 Repeat Expansions.

Longobardi A et al.

International Journal of Molecular Sciences, 2024

39000564 (PubMed )
Supplement: ijms-25-07457-s001.zip › Table_S1__S2.pdf

Pathological 25 kDa C-Terminal Fragments of TDP-43 Are Present in Lymphoblastoid Cell Lines and Extracellular Vesicles from Patients Affected by Frontotemporal Lobar Degeneration and Neuronal Ceroidolipofuscinosis Carrying a GRN Mutation.

Cimini S et al.

International Journal of Molecular Sciences, 2022

Plasma Small Extracellular Vesicles with Complement Alterations in GRN/C9orf72 and Sporadic Frontotemporal Lobar Degeneration.

Bellini S et al.

Cells, 2022

35159297 (PubMed )
Supplement: cells-11-00488-s001.zip › cells-1514005-supplementary › Supplementary_TableS1.pdf

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study.

Moore KM et al.

The Lancet. Neurology, 2020

31810826 (PubMed )
Supplement: NIHMS1067362-supplement-Supplement.pdf

Precision medicine of frontotemporal dementia: from genotype to phenotype.

Che XQ et al.

Frontiers in Bioscience (landmark Edition), 2018

Serum C-Peptide, Visfatin, Resistin, and Ghrelin are Altered in Sporadic and GRN-Associated Frontotemporal Lobar Degeneration.

Zanardini R et al.

Journal of Alzheimer's Disease : Jad, 2018

Loss of exosomes in progranulin-associated frontotemporal dementia.

Benussi L et al.

Neurobiology of Aging, 2016

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

Karch CM et al.

Neurobiology of Aging, 2016

Secretory leukocyte protease inhibitor protein regulates the penetrance of frontotemporal lobar degeneration in progranulin mutation carriers.

Ghidoni R et al.

Journal of Alzheimer's Disease : Jad, 2014

A mutation in the 5'-UTR of GRN gene associated with frontotemporal lobar degeneration: phenotypic variability and possible pathogenetic mechanisms.

Puoti G et al.

Journal of Alzheimer's Disease : Jad, 2014

Progranulin axis and recent developments in frontotemporal lobar degeneration.

Nicholson AM et al.

Alzheimer's Research & Therapy, 2012

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

Ferrari R et al.

Journal of Molecular Neuroscience : Mn, 2011

Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration.

Chen-Plotkin AS et al.

Archives of Neurology, 2011

Genetic background predicts poor prognosis in frontotemporal lobar degeneration.

Borroni B et al.

Neuro-degenerative Diseases, 2011

Variability of the clinical phenotype in an Italian family with dementia associated with an intronic deletion in the GRN gene.

Marcon G et al.

Journal of Alzheimer's Disease : Jad, 2011

Familial frontotemporal dementia with parkinsonism associated with the progranulin c.C1021T (p.Q341X) mutation.

Di Fabio R et al.

Parkinsonism & Related Disorders, 2010

Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide.

Benussi L et al.

Neurobiology of Disease, 2009

Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration.

Ghidoni R et al.

Neurology, 2008

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."