5篇
您的检索式：作者名="Yanwei Sha"
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| 1 | Mutations in DNAH8 contribute to multiple morphological abnormalities of sperm flagella and male infertility显示文摘Asthenoteratospermia is an important cause of male infertility.Here,we report two infertile patients with severe asthenoteratospermia accompanied by new genetic abnormality.Whole-exome sequencing and bioinformatics analysis suggested that compound heterozygous mutations in DNAH8(MIM:603337)may be responsible for multiple morphological abnormalities of the sperm flagella(MMAF).Immunofluorescence assay showed that DNAH8 protein expression was significantly decreased in the sperm tail of the patients,and electron microscopy exhibited an abnormal flagellum ultrastructure,while clinical pregnancy could be achieved by intracytoplasmic sperm injection.Therefore,the compound heterozygous mutations in the DNAH8 gene may be responsible for MMAF. | Mingxiang Weng Yanwei Sha Yu Zeng Ningyu Huang Wensheng Liu Xinzong Zhang Huiliang Zhou | 2021 | Acta Biochimica et Biophysica Sinica2021，53，4： | 2 |
| 2 | Bi-allelic mutations in DNAH7 cause asthenozoospermia by impairing the integrality of axoneme structure显示文摘Asthenozoospermia is the most common cause of male infertility.Dynein protein arms play a crucial role in the motility of both the cilia and flagella,and defects in these proteins generally impair the axoneme structure and cause primary ciliary dyskinesia.But relatively little is known about the influence of dynein protein arm defects on sperm flagella function.Here,we recruited 85 infertile patients with idiopathic asthenozoospermia and identified bi-allelic mutations in DNAH7(NM_018897.3)from three patients using whole-exome sequencing.These variants are rare,highly pathogenic,and very conserved.The spermatozoa from the patients with DNAH7 bi-allelic mutations showed specific losses in the inner dynein arms.The expression of DNAH7 in the spermatozoa from the DNAH7-defective patients was significantly decreased,but these patients were able to have their children via intra-cytoplasmic sperm injection treatment.Our study is the first to demonstrate that bi-allelic mutations in DNAH7 may impair the integrality of axoneme structure,affect sperm motility,and cause asthenozoospermia in humans.These findings may extend the spectrum of etiological genes and provide new clues for the diagnosis and treatment of patients with asthenozoospermia. | Xiaoli Wei Yanwei Sha Zijie Wei Xingshen Zhu Fengming He Xiaoya Zhang Wensheng Liu Yifeng Wang Zhongxian Lu | 2021 | Acta Biochimica et Biophysica Sinica2021，53，10： | 2 |
| 3 | IGF-1R and Bmi-1 expressions in lung adenocarcinoma and their clinicopathologic and prognostic significance显示文摘 | Xueyan Zhang Jiayuan Sun Huimin Wang Yuqing Lou Yanwei Zhang Huifang Sha Jiuxian Feng Baohui Han | 2014 | Tumor Biology2014，，1： | 1 |
| 4 | IGF-1R and Bmi-1 expressions in lung adenocarcinoma and their clinicopathologic and prognostic significance显示文摘 | Xueyan Zhang Jiayuan Sun Huimin Wang Yuqing Lou Yanwei Zhang Huifang Sha Jiuxian Feng Baohui Han | 2014 | Tumor Biology2014，，： | 1 |
| 5 | A novel homozygous splice variant in DNAAF4 is associated with asthenozoospermia显示文摘Primary ciliary dyskinesia(PCD)is an autosomal recessive disorder with a high degree of genetic and phenotypic heterogeneity resulted from defects in the structural characteristics and motility of flagella and cilia[1].To data,over 50 mutations have been identified as harboring PCD-related mutations,and approximately half of the affected patients suffer from infertility as a result of sperm morphological or functional abnormalities[2]. | Xiaobin Zhu Chen Chen Jian Song Shijue Dong Xuhui Zeng Zhihong Niu Yanwei Sha Xiaoning Zhang | 2023 | Acta Biochimica et Biophysica Sinica2023，55，10： | 0 |
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