Varaico: Literature-Extracted Genetic Variants

Gene:NR1H3
Variant:p.R415Q
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NR1H3

NM_005693.4:p.R415Q

Associated Papers

Damaging mutations in liver X receptor-α are hepatotoxic and implicate cholesterol sensing in liver health.

Lockhart SM et al.

Nature Metabolism, 2024

Modeling neurodegenerative disorders in zebrafish.

Bashirzade AA et al.

Neuroscience and Biobehavioral Reviews, 2022

Heterozygous Cystic Fibrosis Transmembrane Regulator Gene Missense Variants Are Associated With Worse Cardiac Function in Patients With Duchenne Muscular Dystrophy.

Jiang X et al.

Journal of the American Heart Association, 2020

Breakdown of multiple sclerosis genetics to identify an integrated disease network and potential variant mechanisms.

Shepard CJ et al.

Physiological Genomics, 2019

Complement C7 is a novel risk gene for Alzheimer's disease in Han Chinese.

Zhang DF et al.

National Science Review, 2019

Genetic variants regulate NR1H3 expression and contribute to multiple sclerosis risk.

Zhang Y et al.

Journal of the Neurological Sciences, 2018

Genetics of Multiple Sclerosis: An Overview and New Directions.

Patsopoulos NA

Cold Spring Harbor Perspectives in Medicine, 2018

Genotype and Phenotype in Multiple Sclerosis-Potential for Disease Course Prediction?

Jokubaitis VG et al.

Current Treatment Options in Neurology, 2018

Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis.

Maver A et al.

Scientific Reports, 2017

Editorial Note to:Nuclear Receptor NR1H3 in Familial Multiple Sclerosis.

Wang Z et al.

Neuron, 2016

NR1H3 p.Arg415Gln Is Not Associated to Multiple Sclerosis Risk.

Unknown Author

Neuron, 2016

Publicly Available Data Provide Evidence against NR1H3 R415Q Causing Multiple Sclerosis.

Minikel EV et al.

Neuron, 2016

Case-Control Studies Are Not Familial Studies.

Wang Z et al.

Neuron, 2016

Liver X receptors: from cholesterol regulation to neuroprotection-a new barrier against neurodegeneration in amyotrophic lateral sclerosis?

Mouzat K et al.

Cellular and Molecular Life Sciences : Cmls, 2016

The Added Value of Family Material in the Discovery of Multiple Sclerosis Genes.

Hain HS et al.

Neuron, 2016

Nuclear Receptor NR1H3 in Familial Multiple Sclerosis.

Wang Z et al.

Neuron, 2016

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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."