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primary ciliary dyskinesia 2

9 + 2 structure 1

Artificial cilia 1

Biomimetic systems 1

CFAP54 1

DNAH10 1

Low Reynolds number 1

Soft actuators 1

bone 1

cilia 1

cilium-related bone disease 1

hard tissue 1

mechanical sensing 1

mice 1

motile cilia 1

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primary cilia 1

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Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice

Frontiers of Medicine   Pages 957-971 doi: 10.1007/s11684-023-0988-8

Abstract: Primary ciliary dyskinesia (PCD) is a congenital, motile ciliopathy with pleiotropic symptoms.Dynein axonemal heavy chain 10 (DNAH10) encodes a subunit of the inner arm dynein heavy chain in motilecilia and sperm flagella.Based on the common axoneme structure of motile cilia and sperm flagella, DNAH10 variants areImmunostaining analysis showed the absence of DNAH10 and DNALI1 in the respiratory cilia

Keywords： DNAH10     mice     motile cilia     mutation     primary ciliary dyskinesia    

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Primary cilia in hard tissue development and diseases

Frontiers of Medicine 2021, Volume 15, Issue 5,   Pages 657-678 doi: 10.1007/s11684-021-0829-6

Abstract: Primary cilia are protrusions on the surfaces of cells.Furthermore, primary cilia act as sensors of external stimuli and regulate bone homeostasis.In this review, we summarize the roles of primary cilia in long bone development and remodeling fromtwo perspectives: primary cilia signaling and sensory mechanisms.In addition, the cilium-related diseases of hard tissue and the manifestations of mutant cilia in the

Keywords： primary cilia     bone     mechanical sensing     hard tissue     cilium-related bone disease     tooth    

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Lack of CFAP54 causes primary ciliary dyskinesia in a mouse model and human patients

Frontiers of Medicine doi: 10.1007/s11684-023-0997-7

Abstract: Primary ciliary dyskinesia (PCD) is a highly heterogeneous recessive inherited disorder. FAP54, the homolog of CFAP54 in Chlamydomonas reinhardtii, was previously demonstrated as the C1d projection of the central microtubule apparatus of flagella. A Cfap54 knockout mouse model was then reported to have PCD-relevant phenotypes. Through whole-exome sequencing, compound heterozygous variants c.2649_2657delinC (p. E883Dfs*47) and c.7312_7313insCGCAGGCTGAATTCTTGG (p. T2438delinsTQAEFLA) in a new suspected PCD-relevant gene, CFAP54, were identified in an individual with PCD. Two missense variants, c.4112A>C (p. E1371A) and c.6559C>T (p. P2187S), in CFAP54 were detected in another unrelated patient. In this study, a minigene assay was conducted on the frameshift mutation showing a reduction in mRNA expression. In addition, a CFAP54 in-frame variant knock-in mouse model was established, which recapitulated the typical symptoms of PCD, including hydrocephalus, infertility, and mucus accumulation in nasal sinuses. Correspondingly, two missense variants were deleterious, with a dramatic reduction in mRNA abundance from bronchial tissue and sperm. The identification of PCD-causing variants of CFAP54 in two unrelated patients with PCD for the first time provides strong supportive evidence that CFAP54 is a new PCD-causing gene. This study further helps expand the disease-associated gene spectrum and improve genetic testing for PCD diagnosis in the future.

Keywords： primary ciliary dyskinesia     CFAP54     cilia    

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Flagellar/Ciliary Intrinsic Driven Mechanism Inspired All-in-One Tubular Robotic Actuator Article

Jiaqi Miao, Tieshan Zhang, Gen Li, Dong Guo, Siqi Sun, Rong Tan, Jiahai Shi, Yajing Shen

Engineering 2023, Volume 23, Issue 4,   Pages 170-180 doi: 10.1016/j.eng.2022.09.014

Abstract:

The unique motion styles of flagella and cilia (i.e., planar/helical waveform propulsion of flagellaHerein, by investigating the inner structure of flagella/cilia and their intrinsic driven mechanisms,

Keywords： Biomimetic systems     Soft actuators     9 + 2 structure     Artificial cilia     Low Reynolds number    

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Title Author Date Type Operation

Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice

Journal Article

Primary cilia in hard tissue development and diseases

Journal Article

Lack of CFAP54 causes primary ciliary dyskinesia in a mouse model and human patients

Journal Article

Flagellar/Ciliary Intrinsic Driven Mechanism Inspired All-in-One Tubular Robotic Actuator

Jiaqi Miao, Tieshan Zhang, Gen Li, Dong Guo, Siqi Sun, Rong Tan, Jiahai Shi, Yajing Shen

Journal Article