Varaico: Literature-Extracted Genetic Variants

Gene:HTRA1
Variant:p.L364P
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HTRA1

NM_002775.5:p.L364P

Associated Papers

A novel gene edited rat model of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL).

Monte B et al.

Cerebral Circulation - Cognition and Behavior, 2025

Rational correction of pathogenic conformational defects in HTRA1.

Beaufort N et al.

Nature Communications, 2024

39013852 (PubMed )
Supplement: 41467_2024_49982_MOESM1_ESM.pdf

Arteriolar neuropathology in cerebral microvascular disease.

Fang C et al.

Neuropathology and Applied Neurobiology, 2023

Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy.

Li YM et al.

Frontiers in Genetics, 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

HTRA1-related autosomal dominant cerebral small vessel disease.

Liu JY et al.

Chinese Medical Journal, 2020

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

Uemura M et al.

Frontiers in Neurology, 2020

Establishment and identification of a novel HTRA1 mutation mice model.

Li C et al.

Reviews in Cardiovascular Medicine, 2019

Genetic Factors of Cerebral Small Vessel Disease and Their Potential Clinical Outcome.

Giau VV et al.

International Journal of Molecular Sciences, 2019

Novel mutation in HTRA1 in a family with diffuse white matter lesions and inflammatory features.

Ziaei A et al.

Neurology. Genetics, 2019

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

Histopathologic Analysis of Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL): A Report of a New Genetically Confirmed Case and Comparison to 2 Previous Cases.

Ito S et al.

Journal of Neuropathology and Experimental Neurology, 2016

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

Verdura E et al.

Brain : a Journal of Neurology, 2015

Features of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy.

Nozaki H et al.

Stroke, 2014

CADASIL and CARASIL.

Tikka S et al.

Brain Pathology (zurich, Switzerland), 2014

A novel mutation of the high-temperature requirement A serine peptidase 1 (HTRA1) gene in a Chinese family with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL).

Chen Y et al.

The Journal of International Medical Research, 2013

A novel mutation in the HTRA1 gene identified in Chinese CARASIL pedigree.

Wang XL et al.

Cns Neuroscience & Therapeutics, 2012

[Molecular pathogenesis of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy].

Shiga A et al.

Brain and Nerve = Shinkei Kenkyu No Shinpo, 2010

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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."