Associated Papers
Rare Variants in HTRA1, SGTB, and RBM12 Confer Risk of Atherosclerotic Cardiovascular Disease Independent of Traditional Cardiovascular Risk Factors.
Lockhart SM et al.
Circulation. Genomic and Precision Medicine, 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
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
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
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
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
Novel mutation in HTRA1 in a family with diffuse white matter lesions and inflammatory features.
Ziaei A et al.
Neurology. Genetics, 2019
A Chinese CARASIL Patient Caused by Novel Compound Heterozygous Mutations in HTRA1.
Xie F et al.
Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association, 2018