Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.Q125*
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GRN

NM_002087.4:p.Q125*

Associated Papers

Identification of novel genetic variations in ABCB6 and GRN genes associated with HIV-associated lipodystrophy.

Singh H et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024

Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.

Li S et al.

Biomolecules, 2023

37371567 (PubMed )
Supplement: biomolecules-13-00988-s001.zip › biomolecules-2391899-supplementary.xlsx › Sheet1

Molecular imaging biomarkers in familial frontotemporal lobar degeneration: Progress and prospects.

Wang R et al.

Frontiers in Neurology, 2022

Progression of Behavioral Disturbances and Neuropsychiatric Symptoms in Patients With Genetic Frontotemporal Dementia.

Benussi A et al.

Jama Network Open, 2021

33404617 (PubMed )
Supplement: jamanetwopen-e2030194-s001.pdf

Frontotemporal dementia non-sense mutation of progranulin rescued by aminoglycosides.

Kuang L et al.

Human Molecular Genetics, 2020

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

Cerebrospinal Fluid Amyloid-β Subtypes in Confirmed Frontotemporal Lobar Degeneration Cases: A Pilot Study.

Verwey NA et al.

Journal of Alzheimer's Disease : Jad, 2019

31356209 (PubMed )
Supplement: sj-docx-1-alz-10.3233_jad-190344.docx

Downregulation of exosomal miR-204-5p and miR-632 as a biomarker for FTD: a GENFI study.

Schneider R et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2018

29434051 (PubMed )
Supplement: jnnp-2017-317492supp001.pdf

Progranulin plasma levels predict the presence of GRN mutations in asymptomatic subjects and do not correlate with brain atrophy: results from the GENFI study.

Galimberti D et al.

Neurobiology of Aging, 2018

Precision medicine of frontotemporal dementia: from genotype to phenotype.

Che XQ et al.

Frontiers in Bioscience (landmark Edition), 2018

Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis.

Rohrer JD et al.

The Lancet. Neurology, 2015

A network of RNA and protein interactions in Fronto Temporal Dementia.

Fontana F et al.

Frontiers in Molecular Neuroscience, 2015

Losing protein in the brain: the case of progranulin.

Ghidoni R et al.

Brain Research, 2012

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

Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update.

Gijselinck I et al.

Human Mutation, 2008

Loss of progranulin function in frontotemporal lobar degeneration.

Cruts M et al.

Trends in Genetics : Tig, 2008

Progranulin: normal function and role in neurodegeneration.

Eriksen JL et al.

Journal of Neurochemistry, 2008

The molecular genetics and neuropathology of frontotemporal lobar degeneration: recent developments.

Mackenzie IR et al.

Neurogenetics, 2007

The genetics of frontotemporal lobar degeneration.

Rademakers R et al.

Current Neurology and Neuroscience Reports, 2007

Progranulin and frontotemporal lobar degeneration.

Pickering-Brown SM

Acta Neuropathologica, 2007

Progranulin mutations in Dutch familial frontotemporal lobar degeneration.

Bronner IF et al.

European Journal of Human Genetics : Ejhg, 2007

Frontotemporal lobar degeneration with ubiquitin-positive inclusions: a molecular genetic update.

van der Zee J et al.

Neuro-degenerative Diseases, 2007

Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia.

Snowden JS et al.

Brain : a Journal of Neurology, 2006

Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration.

Gass J et al.

Human Molecular Genetics, 2006

Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21.

Cruts M et al.

Nature, 2006

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17.

Baker M et al.

Nature, 2006

Progranulin Levels in Plasma and Cerebrospinal Fluid in Granulin Mutation Carriers.

Meeter LH et al.

Dementia and Geriatric Cognitive Disorders Extra, 0

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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."