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
Genetically proxied HTRA1 protease activity and circulating levels independently predict risk of ischemic stroke and coronary artery disease.
Malik R et al.
Nature Cardiovascular Research, 2024
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
Association of Vascular Risk Factors and Genetic Factors With Penetrance of Variants Causing Monogenic Stroke.
Cho BPH et al.
Jama Neurology, 2022
Heterozygous HTRA1 Mutations Cause Cerebral Small Vessel Diseases: Genetic, Clinical, and Pathologic Findings From 3 Chinese Pedigrees.
Yao T et al.
Neurology. Genetics, 2022
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
Whole-exome sequencing reveals a role of HTRA1 and EGFL8 in brain white matter hyperintensities.
Malik R et al.
Brain : a Journal of Neurology, 2021
HTRA1-related autosomal dominant cerebral small vessel disease.
Liu JY et al.
Chinese Medical Journal, 2020
Beyond the Brain: Systematic Review of Extracerebral Phenotypes Associated With Monogenic Cerebral Small Vessel Disease.
Rannikmäe K et al.
Stroke, 2020
HTRA1-Related Cerebral Small Vessel Disease: A Review of the Literature.
Uemura M et al.
Frontiers in Neurology, 2020
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
A novel HTRA1 exon 2 mutation causes loss of protease activity in a Pakistani CARASIL patient.
Khaleeli Z et al.
Journal of Neurology, 2015
Shifting the CARASIL paradigm: report of a non-Asian family and literature review.
Menezes Cordeiro I et al.
Stroke, 2015
Features of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy.
Nozaki H et al.
Stroke, 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
[Clinical manifestations and neuroradiological findings of CARASIL with a novel mutation].
Shibata M
Rinsho Shinkeigaku = Clinical Neurology, 2012
[Dementia: progress in diagnosis and treatment; Topics, V. Recent topics; 4. Detection of novel dementia-related genes; 2) Dysregulation of TGF-beta family signaling and hereditary cerebral small vessel disease: insight into molecular pathogenesis of CARASIL].
Nozaki H et al.
Nihon Naika Gakkai Zasshi. the Journal of the Japanese Society of Internal Medicine, 2011
[Molecular pathogenesis of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy].
Shiga A et al.
Brain and Nerve = Shinkei Kenkyu No Shinpo, 2010
[Two siblings with familial schizencephaly--report of a family and review in relation to clinical features and neuroradiological findings].
Ueda M et al.
Rinsho Shinkeigaku = Clinical Neurology, 1996