Clinical and Genetic Heterogeneity in a Large Family with Pseudoxanthoma Elasticum: MTHFR and SERPINE1 Variants as Possible Disease Modifiers in Developing Ischemic Stroke-Reference-Cited by-同舟云学术

Clinical and Genetic Heterogeneity in a Large Family with Pseudoxanthoma Elasticum: MTHFR and SERPINE1 Variants as Possible Disease Modifiers in Developing Ischemic Stroke

Published:2021-06 Issue:6 Volume:30 Page:105744
ISSN:1052-3057
Container-title:Journal of Stroke and Cerebrovascular Diseases
language:en
Short-container-title:Journal of Stroke and Cerebrovascular Diseases

Author:

Bruno Giorgia^ORCID,Ritelli Marco^ORCID,Di Pietro Andrea,Cipriano Lorenzo,Colombi Marina^ORCID,Lus Giacomo,Puoti Gianfranco^ORCID

Publisher

Elsevier BV

Subject

Cardiology and Cardiovascular Medicine,Neurology (clinical),Rehabilitation,Surgery

Reference21 articles.

1. Mutations in ABCC6 cause pseudoxanthoma elasticum;Bergen;Nat Genet,2000

2. The prevalence of pseudoxanthoma elasticum: revised estimations based on genotyping in a high vascular risk cohort;Kranenburg;Eur J Med Genet,2019

3. Pseudoxanthoma elasticum: diagnostic features, Classification, and treatment options;Uitto;Expert Opin Orphan Drugs,2014

4. Pseudoxanthoma elasticum

5. The vascular phenotype in Pseudoxanthoma elasticum and related disorders: contribution of a genetic disease to the understanding of vascular calcification;Lefthériotis;Front Genet,2013

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1. Unusual Case of Young Age Onset Stroke Suspected to Be Associated with Pseudoxanthoma Elasticum Gene Mutation in ABCC6: A Case Report;Journal of Neurosonology and Neuroimaging;2023-12-31

2. Inducible miR-1224 silences cerebrovascular Serpine1 and restores blood flow to the stroke-affected site of the brain;Molecular Therapy - Nucleic Acids;2023-03

3. Pseudodominance in Friedreich Ataxia—Impact of High Prevalence of Carriers and Intrafamilial Clinical Variation;Movement Disorders Clinical Practice;2023-02-25

4. Bioinformatics Strategies to Identify Shared Molecular Biomarkers That Link Ischemic Stroke and Moyamoya Disease with Glioblastoma;Pharmaceutics;2022-07-28