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- W4377092020 abstract "Many conditions can present with accumulation of calcium in the brain and manifest with a variety of neurological symptoms. Brain calcifications can be primary (idiopathic or genetic) or secondary to various pathological conditions (e.g., calcium–phosphate metabolism derangement, autoimmune disorders and infections, among others). A set of causative genes associated with primary familial brain calcification (PFBC) has now been identified, and include genes such as SLC20A2, PDGFB, PDGFRB, XPR1, MYORG, and JAM2. However, many more genes are known to be linked with complex syndromes characterized by brain calcifications and additional neurologic and systemic manifestations. Of note, many of these genes encode for proteins involved in cerebrovascular and blood–brain barrier functions, which both represent key anatomical structures related to these pathological phenomena. As a growing number of genes associated with brain calcifications is identified, pathways involved in these conditions are beginning to be understood. Our comprehensive review of the genetic, molecular, and clinical aspects of brain calcifications offers a framework for clinicians and researchers in the field." @default.
- W4377092020 created "2023-05-20" @default.
- W4377092020 creator A5012331001 @default.
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- W4377092020 creator A5054718225 @default.
- W4377092020 creator A5056247442 @default.
- W4377092020 creator A5061632778 @default.
- W4377092020 date "2023-05-19" @default.
- W4377092020 modified "2023-09-30" @default.
- W4377092020 title "Brain Calcifications: Genetic, Molecular, and Clinical Aspects" @default.
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