The role of neurotrophins in neuronal plasticity has recently become a strong focus in neuroregeneration research field to elucidate the biological mechanisms by which these molecules modulate synapses,modify the resp...The role of neurotrophins in neuronal plasticity has recently become a strong focus in neuroregeneration research field to elucidate the biological mechanisms by which these molecules modulate synapses,modify the response to injury,and alter the adaptation response.Intriguingly,the prior studies highlight the role of p75 neurotrophin receptor(p75^(NTR))in various injuries and diseases such as central nervous system injuries,Alzheimer's disease and amyotrophic lateral sclerosis.More comprehensive elucidation of the mechanisms,and therapies targeting these molecular signaling networks may allow for neuronal tissue regeneration following an injury.Due to a diverse role of the p75^(NTR)in biology,the body of evidence comprising its biological role is diffusely spread out over numerous fields.This review condenses the main evidence of p75^(NTR)for clinical applications and presents new findings from published literature how data mining approach combined with bioinformatic analyses can be utilized to gain new hypotheses in a molecular and network level.展开更多
Background and Purpose -Pathogenesis of cerebral venous malformation (CVM) is unknown. Because of coexistence of CVM and cerebral cavernous malformations (CCM), some studies have suggested that these 2 entities share ...Background and Purpose -Pathogenesis of cerebral venous malformation (CVM) is unknown. Because of coexistence of CVM and cerebral cavernous malformations (CCM), some studies have suggested that these 2 entities share a common origin and pathogenetic mechanism. Methods -We have identified and ascertained over 200 families with CCM. Among these, 1 unique family was found to have members affected by both disorders. We have performed mutational analysis in all 3 CCM genes, KRIT1, Malcavernin, and PDCD10, to identify the causative gene in the family. Results -Mutational analysis revealed a frameshift mutation affecting exon 19 of the CCM1 gene (KRIT1) in members with CCM, whereas no such mutation was observed in the member with CVM. Conclusions -These findings support the hypothesis that CVM and CCM are 2 distinct entities with different pathogenetic mechanisms. This data further supports the hypothesis that CVM has a distinct biology and clinical behavior when compared to CCM. CVM is a benign developmental anomaly and should be managed separately from CCM.展开更多
文摘The role of neurotrophins in neuronal plasticity has recently become a strong focus in neuroregeneration research field to elucidate the biological mechanisms by which these molecules modulate synapses,modify the response to injury,and alter the adaptation response.Intriguingly,the prior studies highlight the role of p75 neurotrophin receptor(p75^(NTR))in various injuries and diseases such as central nervous system injuries,Alzheimer's disease and amyotrophic lateral sclerosis.More comprehensive elucidation of the mechanisms,and therapies targeting these molecular signaling networks may allow for neuronal tissue regeneration following an injury.Due to a diverse role of the p75^(NTR)in biology,the body of evidence comprising its biological role is diffusely spread out over numerous fields.This review condenses the main evidence of p75^(NTR)for clinical applications and presents new findings from published literature how data mining approach combined with bioinformatic analyses can be utilized to gain new hypotheses in a molecular and network level.
文摘Background and Purpose -Pathogenesis of cerebral venous malformation (CVM) is unknown. Because of coexistence of CVM and cerebral cavernous malformations (CCM), some studies have suggested that these 2 entities share a common origin and pathogenetic mechanism. Methods -We have identified and ascertained over 200 families with CCM. Among these, 1 unique family was found to have members affected by both disorders. We have performed mutational analysis in all 3 CCM genes, KRIT1, Malcavernin, and PDCD10, to identify the causative gene in the family. Results -Mutational analysis revealed a frameshift mutation affecting exon 19 of the CCM1 gene (KRIT1) in members with CCM, whereas no such mutation was observed in the member with CVM. Conclusions -These findings support the hypothesis that CVM and CCM are 2 distinct entities with different pathogenetic mechanisms. This data further supports the hypothesis that CVM has a distinct biology and clinical behavior when compared to CCM. CVM is a benign developmental anomaly and should be managed separately from CCM.
