Varaico: Literature-Extracted Genetic Variants

Gene:HTRA1
Variant:p.T319I
Back to variants list

HTRA1

NM_002775.5:p.T319I

Associated Papers

A human induced pluripotent stem cell model from a patient with hereditary cerebral small vessel disease carrying a heterozygous R302Q mutation in HTRA1.

Qian E et al.

Inflammation and Regeneration, 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

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

HTRA1-related autosomal dominant cerebral small vessel disease.

Liu JY et al.

Chinese Medical Journal, 2020

33109952 (PubMed )
Supplement: cm9-134-178-s001.pdf

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

Heterozygous HTRA1 mutations with mimicking symptoms of CARASIL in two families.

Kono Y et al.

Clinical Neurology and Neurosurgery, 2018

Distinct molecular mechanisms of HTRA1 mutants in manifesting heterozygotes with CARASIL.

Nozaki H et al.

Neurology, 2016

Autosomal Dominant Cerebral Small Vessel Disease in HTRA1 Gene Mutation.

Mahale RR et al.

Annals of Indian Academy of Neurology, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."