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| 1 | Nodal及其受体在不同发育期小鼠组织器官中的表达显示文摘目的研究Nodal生长分化因子(Nodal)及其受体在不同发育期小鼠的不同组织器官中的表达情况。方法将10对(雌雄各一只为一对)小鼠分为4组:3对小鼠作为成年鼠组,剩余7对使其交配,其中3只孕鼠为胎鼠组,3只孕鼠为新生鼠组,1只孕鼠为仔鼠组。分别选取胎鼠、新生鼠、仔鼠、成年鼠的脑、肝、肾、心、肺等全身多种组织器官制备蛋白样品,采用Western blot方法检测Nodal及其Ⅰ型受体激活素受体样激酶(ALK)7、ALK4和辅助受体Cripto-1蛋白的表达。结果仅大脑、小脑、肝脏、肾脏等4种组织器官在小鼠个体发育4个不同时期均有Nodal蛋白表达,其中只有肝和肾在4个发育时期同时表达Nodal及其受体蛋白。此外,与胎鼠、新生鼠和仔鼠3个发育阶段明显不同的是,大多数成年鼠组织器官均表达Nodal及其受体蛋白。结论在小鼠个体发育后期,Nodal信号对肝脏和肾脏器官的生长发育可能具有一定作用。 | 王轲 朱敏 顾洪 李念峰 胡湘麟 曾凡才 | 2018 | 重庆医学2018，47，12： | 4 |
| 2 | Novel mutation in ODF2 causes multiple morphological abnormalities of the sperm flagella in an infertile male显示文摘Numerous genes have been associated with multiple morphological abnormalities of the sperm flagella(MMAF),which cause severe asthenozoospermia and lead to male infertility,while the causes of approximately 50%of MMAF cases remain unclear.To reveal the genetic causes of MMAF in an infertile patient,whole-exome sequencing was performed to screen for pathogenic genes,and electron microscope was used to reveal the sperm flagellar ultrastructure.A novel heterozygous missense mutation in the outer dense fiber protein 2(ODF2)gene was detected,which was inherited from the patient’s mother and predicted to be potentially damaging.Transmission electron microscopy revealed that the outer dense fibers were defective in the patient’s sperm tail,which was similar to that of the reported heterozygous Odf2 mutation mouse.Immunostaining of ODF2 showed severe ODF2 expression defects in the patient’s sperm.Therefore,it was concluded that the heterozygous mutation in ODF2 caused MMAF in this case.To evaluate the possibility of assisted reproductive technology(ART)treatment for this patient,intracytoplasmic sperm injection(ICSI)was performed,with the help of a hypo-osmotic swelling test and laser-assisted immotile sperm selection(LAISS)for available sperm screening,and artificial oocyte activation with ionomycin was applied to improve the fertilization rate.Four ICSI cycles were performed,and live birth was achieved in the LAISS-applied cycle,suggesting that LAISS would be valuable in ART treatment for MMAF. | Zi-Jue Zhu Yi-Zhou Wang Xiao-Bo Wang Chen-Cheng Yao Liang-Yu Zhao Zhen-Bo Zhang Yu Wu Wei Chen Zheng Li | 2022 | Asian Journal of Andrology2022，24，5： | 1 |
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