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
Heterozygous HTRA1-related Cerebral Small Vessel Disease with Short Stature and Limbs.
Serizawa Y et al.
Internal Medicine (tokyo, Japan), 2025
CADASIL: A NOTCH3-associated cerebral small vessel disease.
Yuan L et al.
Journal of Advanced Research, 2024
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
Genetically proxied HTRA1 protease activity and circulating levels independently predict risk of ischemic stroke and coronary artery disease.
Dichgans M et al.
Research Square, 2023
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
High frequency of HTRA1 AND ABCC6 mutations in Japanese patients with adult-onset cerebral small vessel disease.
Uemura M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 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
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
Identified novel heterozygous HTRA1 pathogenic variants in Chinese patients with HTRA1-associated dominant cerebral small vessel disease.
Chen MJ et al.
Frontiers in Genetics, 2022
Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants.
Muthusamy K et al.
Molecular Genetics & Genomic Medicine, 2021
Genotype-phenotype correlations of heterozygous HTRA1-related cerebral small vessel disease: case report and systematic review.
Zhang H et al.
Neurogenetics, 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
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