Chao Lu
13 Papers
3 Citations
Chao Lu is an academic researcher. The author has contributed to research in topics: Joubert syndrome & Exome sequencing. The author has an hindex of 3, co-authored 8 publications.
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Papers
Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome.
Minna Luo,Zaisheng Lin,Tian Zhu,Minjun Jin,Dan Meng,Ruida He,Cao Zongfu,Yue Shen,Chao Lu,Cai Ruikun,Yong Zhao,Xueyan Wang,Hui Li,Shijing Wu,Xuan Zou,Guanjun Luo,Li Cao,Min Huang,Huike Jiao,Gao Huafang,Ruifang Sui,Chengtian Zhao,Xu Ma,Muqing Cao +23 more
TL;DR: In this paper, the impact of intraflagellar transport (IFT) dysfunction in the cilia Joubert syndrome (JBTS) was explored and it was identified as a JBTS-associated gene in three unrelated families.
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Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome.
Minna Luo,Li Cao,Cao Zongfu,Siyu Ma,Yue Shen,Di Yang,Chao Lu,Zaisheng Lin,Zhimin Liu,Yu Yufei,Cai Ruikun,Chen Cuixia,Gao Huafang,Xueyan Wang,Muqing Cao,Xu Ma +15 more
TL;DR: Joubert syndrome is a recessive developmental disorder characterized by cerebellar vermis hypoplasia and a distinctive mid‐hindbrain malformation called the “molar tooth sign” on axial magnetic resonance imaging.
8
Whole Exome Sequencing Identified Novel ARMC9 Variations in Two Cases With Joubert Syndrome
Hao Wang,Guanjun Luo,Wensheng Hu,Jin Mei,Yue Shen,Min Wang,Yuan Zi Tan,Yang Yang,Chao Lu,Yongxin Zhao,Ming Qi +10 more
TL;DR: The findings in this study expanded the mutation spectrum of ARMC9-associated JS, and it is suggested that the function of AR MC9 in the pathogenesis of JS might involve the development of primary cilia, after discussing thefunction of the ARMC 9 protein.
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Novel Compound Heterozygous Variants in MKS1 Leading to Joubert Syndrome.
Minna Luo,Ruida He,Zaisheng Lin,Yue Shen,Guangyu Zhang,Cao Zongfu,Chao Lu,Dan Meng,Jing Zhang,Xu Ma,Muqing Cao +10 more
TL;DR: Functional studies showed that the c.1058delG mutation disrupts the B9 domain of MKS1, attenuates the interactions with B9D2, and impairs its ciliary localization at the transition zone (TZ), indicating that the B8 domain ofMKS1 is essential for the integrity of the B 9 protein complex and localization of MKs1 at the TZ.
A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome
TL;DR: Wang et al. as discussed by the authors identified a single nucleotide variant c.3303G > A and a 1.38-kb deletion in KIAA0586 in the proband.