Associated Papers
[A 57-year-old male case of high temperature requirement A serine peptidase 1 (HTRA1)-related cerebral small vessel disease with "Chocolate Chip Sign" on susceptibility-weighted imaging].
Takasone K et al.
Rinsho Shinkeigaku = Clinical Neurology, 2026
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
CADASIL: A NOTCH3-associated cerebral small vessel disease.
Yuan L et al.
Journal of Advanced Research, 2024
HTRA1-related cerebral small-vessel disease causes cerebral microbleeds on the brainstem surface.
Kobayashi Y et al.
Journal of the Neurological Sciences, 2024
Rational correction of pathogenic conformational defects in HTRA1.
Beaufort N et al.
Nature Communications, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 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
Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1.
Kondo Y et al.
Neurology. Genetics, 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
Association of Vascular Risk Factors and Genetic Factors With Penetrance of Variants Causing Monogenic Stroke.
Cho BPH et al.
Jama Neurology, 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
Genotype-phenotype correlations of heterozygous HTRA1-related cerebral small vessel disease: case report and systematic review.
Zhang H et al.
Neurogenetics, 2021
Corrigendum: HTRA1 Mutations Identified in Symptomatic Carriers Have the Property of Interfering the Trimer-Dependent Activation Cascade.
Uemura M et al.
Frontiers in Neurology, 2021
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
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
Distinct molecular mechanisms of HTRA1 mutants in manifesting heterozygotes with CARASIL.
Nozaki H et al.
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
Structural and functional analysis of HtrA1 and its subdomains.
Eigenbrot C et al.
Structure (london, England : 1993), 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
Cerebral small-vessel disease protein HTRA1 controls the amount of TGF-β1 via cleavage of proTGF-β1.
Shiga A et al.
Human Molecular Genetics, 2011
Review: molecular genetics and pathology of hereditary small vessel diseases of the brain.
Yamamoto Y et al.
Neuropathology and Applied Neurobiology, 2011
[Molecular mechanism and therapeutic strategy for cerebral small vessel disease].
Hara K
Rinsho Shinkeigaku = Clinical Neurology, 2010
[Molecular pathogenesis of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy].
Shiga A et al.
Brain and Nerve = Shinkei Kenkyu No Shinpo, 2010
Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease.
Hara K et al.
The New England Journal of Medicine, 2009