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Your search keyword '"Mao, Xiaojian"' showing total 343 results
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343 results on '"Mao, Xiaojian"'

24. The third case of Marbach‐Rustad progeroid syndrome caused by a de novo LEMD2 variant.

Author

Lu, Zhikun, Zhang, Wen, Mao, Xiaojian, Li, Duan, Chen, Xiaodan, Liu, Li, and Lin, Yunting

Subjects
FACIAL abnormalities, GENETIC variation, SYNDROMES, RARE diseases, SPEECH
Abstract

Marbach‐Rustad progeroid syndrome is an extremely rare disease caused by a heterozygous variant in the LEMD2 gene. To date, only two patients and one LEMD2 pathogenic variant have been reported in Marbach‐Rustad progeroid syndrome. Here we describe the third case of Marbach‐Rustad progeroid syndrome worldwide, which is also the first case in China. The proband was affected with premature birth, failed to thrive, facial abnormalities, feeding difficulties, skull defects and delayed motor milestones, but had a normal intelligence and speech. Whole exome sequencing (WES) initially did not find a phenotype‐causing variant when the proband was 1 year of age. The reanalysis of WES data 4 years later revealed the proband harbored a de novo heterozygous c.1436C>T(p.Ser479Phe) variant in the LEMD2 gene, which is known responsible for Marbach‐Rustad progeroid syndrome. Sanger sequencing confirmed the presence of this variant in the proband and absence in his parents and two elder sisters. Our study provides accurate clinical diagnosis for the proband and adds a new patient with Marbach‐Rustad progeroid syndrome. Our study suggests the LEMD2 c.1436C>T(p.Ser479Phe) variant as a hotspot. Our work also indicates reanalysis of WES data of negative cases might identify pathogenic variant and improve diagnostic efficiency. [ABSTRACT FROM AUTHOR]

Published
2024
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44. P-hydroxy benzaldehyde facilitates reprogramming of reactive astrocytes into neurons via endogenous transcriptional regulation.

Author

Li, Xin, Fan, Ruoxi, Xiang, Jianming, Yuan, Yajin, Mao, Xiaojian, and Zhou, Ningna

Subjects
GENETIC transcription regulation, NEURONS, BENZALDEHYDE, ASTROCYTES, CEREBRAL ischemia, POINT processes, PLURIPOTENT stem cells, TRANSCRIPTION factors, HYDROXYCINNAMIC acids
Abstract

Cerebral ischemia leads to linguistic and motor dysfunction, as the death of neurons in ischemic core is permanent and non-renewable. An innovative avenue is to induce and/or facilitate reprogramming of adjacent astrocytes into neurons to replace the lost neurons and re-establish brain homeostasis. This study aimed to investigate whether the p-hydroxy benzaldehyde (p-HBA), a phenolic compound isolated from Gastrodia elata Blume, could facilitate the reprogramming of oxygen-glucose deprivation/reperfusion (OGD/R)-damaged astrocytes into neurons. The primary parenchymal astrocytes of rat were exposure to OGD and reperfusion with define culture medium. Cells were then incubated with different concentration of p-HBA (1, 10, 100, 400 μM) and collected at desired time point for reprogramming process analysis. OGD/R could elicit endogenous neurogenic program in primary parenchymal astrocytes of rat under define culture condition, and these so-called reactive astrocytes could be reprogrammed into neurons. However, the neonatal neurons produced by this endogenous procedure could not develop into mature neurons, and the conversion rate was only 1.9%. Treatment of these reactive astrocytes with p-HBA could successfully promote the conversion rate to 6.1%, and the neonatal neurons could develop into mature neurons within 14 days. Further analysis showed that p-HBA down-regulated the Notch signal component genes Dll1, Hes1 and SOX2, while the transcription factor NeuroD1 was up-regulated. The results of this study demonstrated that p-HBA facilitated the astrocyte-to-neuron conversion. This chemical reprogramming was mediated by inhibition of Notch1 signaling pathway and transcriptional activation of NeuroD1. [ABSTRACT FROM AUTHOR]

Published
2023
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