Varaico: Literature-Extracted Genetic Variants

Gene:HTRA1
Variant:p.V175M
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HTRA1

NM_002775.5:p.V175M

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

Rare Sequence Variation Underlying Suspected Familial Cerebral Small-Vessel Disease.

Cho BPH et al.

Journal of the American Heart Association, 2024

Rational correction of pathogenic conformational defects in HTRA1.

Beaufort N et al.

Nature Communications, 2024

39013852 (PubMed )
Supplement: 41467_2024_49982_MOESM1_ESM.pdf

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

39196222 (PubMed )
Supplement: 44161_2024_475_MOESM3_ESM.xlsx › ST1

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

Heterozygous Pathogenic and Likely Pathogenic Symptomatic HTRA1 Variant Carriers in Cerebral Small Vessel Disease.

Xu SY et al.

International Journal of General Medicine, 2023

Association of Vascular Risk Factors and Genetic Factors With Penetrance of Variants Causing Monogenic Stroke.

Cho BPH et al.

Jama Neurology, 2022

36300346 (PubMed )
Supplement: jamaneurol-e223832-s001.pdf

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

Novel mutations in HTRA1-related cerebral small vessel disease and comparison with CADASIL.

Zhang C et al.

Annals of Clinical and Translational Neurology, 2022

Two Unique Mutations in HTRA1-Related Cerebral Small Vessel Disease in North America and Africa and Literature Review.

Shang T et al.

Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association, 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

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

Characterization of Heterozygous HTRA1 Mutations in Taiwanese Patients With Cerebral Small Vessel Disease.

Lee YC et al.

Stroke, 2018

Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease.

Di Donato I et al.

Cns Neuroscience & Therapeutics, 2017

Autosomal Dominant Cerebral Small Vessel Disease in HTRA1 Gene Mutation.

Mahale RR et al.

Annals of Indian Academy of Neurology, 0

CARASIL - A Review of Patients from India.

Khandelwal D et al.

Neurology India, 0

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