Varaico: Literature-Extracted Genetic Variants

Gene:HTRA1
Variant:p.P285Q
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HTRA1

NM_002775.5:p.P285Q

Associated Papers

Comparison of clinical and imaging features of cerebral small vessel disease associated with heterozygous HTRA1 and NOTCH3 mutations.

Lee YC et al.

International Journal of Stroke : Official Journal of the International Stroke Society, 2026

Clinical features and pathogenicity assessment in patients with HTRA1-autosomal dominant disease.

He Z et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023

Heterozygous Pathogenic and Likely Pathogenic Symptomatic HTRA1 Variant Carriers in Cerebral Small Vessel Disease.

Xu SY et al.

International Journal of General Medicine, 2023

Report of two pedigrees with heterozygous HTRA1 variants-related cerebral small vessel disease and literature review.

Zhou H et al.

Molecular Genetics & Genomic Medicine, 2022

Systematic Review of Cerebral Phenotypes Associated With Monogenic Cerebral Small-Vessel Disease.

Whittaker E et al.

Journal of the American Heart Association, 2022

High Diagnostic Utility Incorporating a Targeted Neurodegeneration Gene Panel With MRI Brain Diagnostic Algorithms in Patients With Young-Onset Cognitive Impairment With Leukodystrophy.

Chen Z et al.

Frontiers in Neurology, 2021

HTRA1-related autosomal dominant cerebral small vessel disease.

Liu JY et al.

Chinese Medical Journal, 2020

HTRA1 expression profile and activity on TGF-β signaling in HTRA1 mutation carriers.

Fasano A et al.

Journal of Cellular Physiology, 2020

HTRA1-Related Cerebral Small Vessel Disease: A Review of the Literature.

Uemura M et al.

Frontiers in Neurology, 2020

HTRA1 Mutations Identified in Symptomatic Carriers Have the Property of Interfering the Trimer-Dependent Activation Cascade.

Uemura M et al.

Frontiers in Neurology, 2019

Characterization of Heterozygous HTRA1 Mutations in Taiwanese Patients With Cerebral Small Vessel Disease.

Lee YC et al.

Stroke, 2018

Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.

Verdura E et al.

Brain : a Journal of Neurology, 2015

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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."