AI Article Synopsis
- COL4A1-related disorders lead to more brain bleeding issues compared to other similar hereditary conditions.
- These disorders show a wide range of symptoms, including bleeding outside the brain and the occurrence of brain tumors.
- A case study is presented involving a Japanese family with a new COL4A1 variant, highlighting a patient who experienced frequent nosebleeds and had glioblastoma.
Article Abstract
COL4A1-related disorders are characterized by a higher incidence of cerebral hemorrhage than other hereditary cerebral small vessel diseases. Accumulating data have shown broad phenotypic variations, and extracerebral hemorrhages have been linked to these disorders. Moreover, the coexistence of neural tumors has been described. Here, we report a Japanese family with a novel COL4A1 variant, including a patient with recurrent epistaxis and glioblastoma.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8121905 | PMC |
| http://dx.doi.org/10.1038/s41439-021-00150-0 | DOI Listing |
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Article Synopsis
- - The study aimed to develop reliable methods to predict and prevent atrial fibrillation (AF) by identifying specific plasma proteins associated with the condition, using data from the UK Biobank involving 38,784 participants.
- - Researchers found 21 proteins linked to AF, with COL4A1 and RET showing significant causal relationships; RET is considered a potential drug target.
- - The inclusion of COL4A1 greatly improved the predictive ability of existing AF models, demonstrated by various statistical performance metrics.
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