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您的检索式：作者名="Chaofeng Tu"
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| 1 | Novel biallelic PCNT deletion causing microcephalic osteodysplastic primordial dwarfism type II with congenital heart defect显示文摘Dear Editor, Microcephalic osteodysplastic primordial dwarfism type Ⅱ (MOPD Ⅱ )is characterized by developmental retardation, wherein the affected individuals usually present with intrauterine growth retardation and preterm birth (Majewski et al.,1982;Willems et al.,2010).This leads to an average weight of <1,500g at birth and extremely restricted postnatal growth (Hall et al.,2004;Rauch,2011).Clinical manifestations ofMOPD Ⅱ include microcephaly,disproportionately short stature,mild skeletal dysplasia,unusual facial features including a prominent nose,prominent eyes in infancy and early childhood,some affected individuals exhibit slightly reduced intellectual development and cerebral vascular malformations (Willems et al.,2010;Li et al.,2015;Sam et al.,2015). | Lanlan Meng Chaofeng Tu Guangxiu Lu Ge Lin Yueqiu Tan | 2019 | Science China(Life Sciences)2019，62，1： | 2 |
| 2 | Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice显示文摘Primary ciliary dyskinesia(PCD)is a congenital,motile ciliopathy with pleiotropic symptoms.Although nearly 50 causative genes have been identified,they only account for approximately 70%of definitive PCD cases.Dynein axonemal heavy chain 10(DNAH10)encodes a subunit of the inner arm dynein heavy chain in motile cilia and sperm flagella.Based on the common axoneme structure of motile cilia and sperm flagella,DNAH10 variants are likely to cause PCD.Using exome sequencing,we identified a novel DNAH10 homozygous variant(c.589C>T,p.R197W)in a patient with PCD from a consanguineous family.The patient manifested sinusitis,bronchiectasis,situs inversus,and asthenoteratozoospermia.Immunostaining analysis showed the absence of DNAH10 and DNALI1 in the respiratory cilia,and transmission electron microscopy revealed strikingly disordered axoneme 9+2 architecture and inner dynein arm defects in the respiratory cilia and sperm flagella.Subsequently,animal models of Dnah10-knockin mice harboring missense variants and Dnah10-knockout mice recapitulated the phenotypes of PCD,including chronic respiratory infection,male infertility,and hydrocephalus.To the best of our knowledge,this study is the first to report DNAH10 deficiency related to PCD in human and mouse models,which suggests that DNAH10 recessive mutation is causative of PCD. | Rongchun Wang Danhui Yang Chaofeng Tu Cheng Lei Shuizi Ding Ting Guo Lin Wang Ying Liu Chenyang Lu Binyi Yang Shi Ouyang Ke Gong Zhiping Tan Yun Deng Yueqiu Tan Jie Qing Hong Luo | 2023 | Frontiers of Medicine2023，17，5： | 0 |
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