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Strategies for Dissecting the Genetic Driving of Conserved Noncoding-Elements for Evolutionary Development of the Corpus Callosum
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作者 Yaxin Ye Boxing Jin +1 位作者 Hao W.Zhang nengyin sheng 《Neuroscience Bulletin》 SCIE CAS CSCD 2024年第7期1025-1027,共3页
With the efforts in developmental biology and neuroscience during the past several decades,our knowledge has been significantly advanced about the genetic,cellular,and molecular mechanisms underlying brain development... With the efforts in developmental biology and neuroscience during the past several decades,our knowledge has been significantly advanced about the genetic,cellular,and molecular mechanisms underlying brain development and function.However,we should keep in mind that the human brain is the product of complex evolutionary processes,and there is a trade-off between brain evolution and neurological disorders[1]. 展开更多
关键词 function. NEUROLOGICAL KNOWLEDGE
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BMP signaling pathway and spinal cord development 被引量:3
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作者 Zhihui XIE nengyin sheng Naihe JING 《Frontiers in Biology》 CAS CSCD 2012年第1期24-29,共6页
The development of spinal cord is a precisely and sequentially regulated process, which is controlled bysignaling pathways and transcription factors in each stage. Overwhelming data have shown the essential roles of B... The development of spinal cord is a precisely and sequentially regulated process, which is controlled bysignaling pathways and transcription factors in each stage. Overwhelming data have shown the essential roles of BMP signaling in different stages of this developmental process. It is also clear that the proper functions of BMP signaling require its cross-talk with several other signaling pathways including Notch, Wnt and retinoic acid (RA) pathways. Here, we highlight the recent advancement in understanding the roles of BMP signaling during neurogenesis, neural tube patterning, axon development and glial differentiation in the spinal cord, and emphasize its integrations with other pathways during these processes. 展开更多
关键词 BMP spinal cord NEUROGENESIS PATTERNING GLIA
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A novel missense variant in ACAA1 contributes to early-onset Alzheimer’s disease,impairs lysosomal function,and facilitates amyloid-p pathology and cognitive decline 被引量:2
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作者 Rongcan Luo Yu Fan +14 位作者 Jing Yang Maosen Ye Deng-Feng Zhang Kun Guo Xiao Li Rui Bi Min Xu Lu-Xiu Yang Yu Li Xiaoqian Ran Hong-Yan Jiang Chen Zhang Liwen Tan nengyin sheng Yong-Gang Yao 《Signal Transduction and Targeted Therapy》 SCIE CSCD 2021年第9期2920-2935,共16页
Alzheimer’s disease(AD)is characterized by progressive synaptic dysfunction,neuronal death,and brain atrophy,with amyloid-p(Ap)plaque deposits and hyperphosphorylated tau neurofibrillary tangle accumulation in the br... Alzheimer’s disease(AD)is characterized by progressive synaptic dysfunction,neuronal death,and brain atrophy,with amyloid-p(Ap)plaque deposits and hyperphosphorylated tau neurofibrillary tangle accumulation in the brain tissue,which all lead to loss of cognitive function.Pathogenic mutations in the well-known AD causal genes including APP,PSEN1,and PSEN2 impair a variety of pathways,including protein processing,axonal transport,and metabolic homeostasis.Here we identified a missense variant rs117916664(c.896T>C,p.Asn299Ser[p.N299S])of the acetyl-CoA acyltransferase 1(ACM1)gene in a Han Chinese AD family by whole-genome sequencing and validated its association with early-onset familial AD in an independent cohort.Further in vitro and in vivo evidence showed that ACAA1 p.N299S contributes to AD by disturbing its enzymatic activity,impairing lysosomal function,and aggravating the Ap pathology and neuronal loss,which finally caused cognitive impairment in a murine model.Our findings reveal a fundamental role of peroxisome-mediated lysosomal dysfunction in AD pathogenesis. 展开更多
关键词 Alzheimer AMYLOID LYSOSOMAL
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CMT2D neuropathy is influenced by vitamin D-mediated environmental pathway
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作者 Huaqing Liu Mingmin Tang +8 位作者 Hualin Yu Tongfei Liu Qinqin Cui Linfan Gu Zhi-Ying Wu nengyin sheng Xiang-Lei Yang Linghui Zeng Ge Bai 《Journal of Molecular Cell Biology》 SCIE CAS CSCD 2023年第4期64-67,共4页
Dear Editor,Peripheral neuropathy is a group of devastating diseases affecting periphe-ral nerves and may cause symptoms such as extreme numbness,muscle weakness,and paralysis.Currently,there are no effective therapie... Dear Editor,Peripheral neuropathy is a group of devastating diseases affecting periphe-ral nerves and may cause symptoms such as extreme numbness,muscle weakness,and paralysis.Currently,there are no effective therapies for these diseases.Great progress has been made in identifying genetic causes for peripheral neuropathy owing to the advances in genetic testing in the last decade.For example,>100 genes have been identified to be associated with Charcot–Marie–Tooth(CMT)neuropathy,a group of disorders among the most common forms of inherited peripheral neuropathy. 展开更多
关键词 NEUROPATHY VITAMIN Marie
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