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Novel homozygous SPAG17 variants cause human male infertility through multiple morphological abnormalities of spermatozoal flagella related to axonemal microtubule doublets
《Asian Journal of Andrology》2025年第2期245-253,共9页Tao Liu Fazal Rahim Meng-Lei Yang Meftah Uddin Jing-Wei Ye Imtiaz Ali Yousaf Raza Abu Mansoor Muhammad Shoaib Mujahid Hussain Ihsan Khan Basit Shah Asad Khan Ahmad Nisar Hui Ma Bo Xu Wasim Shah Qing-Hua Shi 
s supported by the National Natural Science Foundation of China(No.82171599 and No.32270901);the National Key Research and Developmental Program of China(2022YFC2702601 and 2022YFA0806303);the Global Select Project(DJKLX-2022010)of the Institute of Health and Medicine,Hefei Comprehensive National Science Center.
Male infertility can result from impaired sperm motility caused by multiple morphological abnormalities of the flagella(MMAF).Distinct projections encircling the central microtubules of the spermatozoal axoneme play p...
关键词：C1a projection central apparatus male infertility multiple morphological abnormalities of the flagella SPAG17 
A novel homozygous splicing mutation in AK7 associated with multiple morphological abnormalities of the sperm flagella
《Asian Journal of Andrology》2025年第2期276-276,共1页Thomas Greither Holger Herlyn 
Medically assisted reproduction(MAR)techniques are highly dependent on the sperm quantity and quality.Low sperm concentrations can be bypassed at least to some point by the usage of more sophisticated MAR techniques l...
关键词：intracytoplasmic sperm injection icsi compared AK medically assisted reproduction medically assisted reproduction mar techniques sperm flagella morphological abnormalities therapy couple infertility mar techniques 
A novel homozygous splicing mutation in AK7 causes multiple morphological abnormalities of sperm flagella in patients from consanguineous Pakistani families
《Asian Journal of Andrology》2025年第2期189-195,共7页Ansar Hussain Huan Zhang Muhammad Zubair Wasim Shah Khalid Khan Imtiaz Ali Yousaf Raza Aurang Zeb Tanveer Abbas Nisar Ahmed Fazal Rahim Ghulam Mustafa Meftah Uddin Nadeem Ullah Musavir Abbas Muzammil Ahmad Khan Hui Ma Bo Yang Qing-Hua Shi 
supported by the National Key Research and Development Program of China(No.2021YFC2700202,No.2022YFA0806303,and No.2022YFC2702601);the Global Select Project of the Institute of Health and Medicine,Hefei Comprehensive National Science Center(DJK-LX-2022010);the Joint Fund for New Medicine of USTC(YD9100002034).
Multiple morphological abnormalities of the flagella(MMAF)represent a severe form of sperm defects leading to asthenozoospermia and male infertility.In this study,we identified a novel homozygous splicing mutation(c.8...
关键词：AK7 ASTHENOZOOSPERMIA male infertility multiple morphological anomalies of the flagella 
Homozygous phytosterolemia and a literature review:A case report
《World Journal of Clinical Cases》2025年第10期46-52,共7页Chun-Xin Jiang Guang Yang Lian-Ping Shi Peng-Yu Su 
Supported by Natural Science Foundation of Heibei Province,No.H2020209160。
BACKGROUND Phytosterolemia,also known as sitosterolemia,is a rare autosomal recessive disease characterized by elevated plasma plant sterol levels and xanthomata,which is easily misdiagnosed as familial hypercholester...
关键词：HYPERCHOLESTEROLEMIA CHOLESTEROL Low-density lipoprotein Phytosterolemia Liquid chromatography ABCG5/ABCG8 Sitosterolemia 
Homozygous deleterious variants in MYCBPAP induce asthenoteratozoospermia involving abnormal acrosome biogenesis, manchette structure and sperm tail assembly in humans and mice
《Science China(Life Sciences)》2025年第3期777-792,共16页Yiling Zhou Chaofeng Tu Charles Coutton Jianan Tang Shixiong Tian Shuyan Tang Guillaume Martinez Dapeng Zhou Célia Tebbakh Jiaxiong Wang Raoudha Zouari Xuehai Zhou Selima Fourati Ben Mustapha Xuemei Wang Bangguo Wu Xinyan Geng Shuang Liu Li Jin Huijuan Shi Yue-Qiu Tan Pierre FRay Lingbo Wang Xiaoyu Yang Feng Zhang Chunyu Liu 
supported by the National Natural Science Foundation of China(32288101,32100480,32370654,82271638,32322017);the Innovative Research Team of High-Level Local Universities in Shanghai(SHSMU-ZDCX20212200);Shanghai Hospital Development Center Foundation(SHDC12023121);the outstanding Youth Foundation of Hunan Provincial Natural Science Foundation of China(2023JJ20080).
Asthenoteratozoospermia is a common cause of male infertility.To further define the genetic causes underlying asthenoteratozoospermia,we performed whole-exome sequencing in a cohort of Han Chinese men with asthenotera...
关键词：male infertility asthenoteratozoospermia MYCBPAP acrosome biogenesis MANCHETTE AXONEME 
A novel homozygous mutation of CFAP300 identified in a Chinese patient with primary ciliary dyskinesia and infertility
《Asian Journal of Andrology》2025年第1期113-119,共7页Zheng Zhou Qi Qi Wen-Hua Wang Jie Dong Juan-Juan Xu Yu-Ming Feng Zhi-Chuan Zou Li Chen Jin-Zhao Ma Bing Yao 
supported by the China Postdoctoral Science Foundation Grant(2023M734294);Jiangsu Provincial Medical Key Discipline Cultivation Unit(JSDW202215);the National Natural Science Foundation of China(No.82001618).
Primary ciliary dyskinesia(PCD)is a clinically rare,genetically and phenotypically heterogeneous condition characterized by chronic respiratory tract infections,male infertility,tympanitis,and laterality abnormalities...
关键词：CFAP300 variant male infertility primary ciliary dyskinesia sperm flagella whole-exome sequencing 
Recurrent eosinophilia with a novel homozygous ARPC1B mutation
《Frontiers of Medicine》2025年第1期174-180,共7页Gamze Sonmez Baris Ulum Ates Kutay Tenekeci Canan Caka AliŞahin Alp Kazancıoğlu Begum Ozbek İsmail Yaz Saliha Esenboğa DenizÇağdaş 
Cytoskeletal network dysregulation is a pivotal determinant in various immunodeficiencies and autoinflammatory conditions. This report reviews the significance of actin remodeling in disease pathogenesis, focusing on ...
关键词：actin cytoskeleton defects ARPC1B deficiency HYPEREOSINOPHILIA primary immunodeficiency cystic fibrosis 
A novel homozygous intronic variant affecting splicing in the RYR1 gene contributes to fetal hydrops
《Genes & Diseases》2024年第6期107-110,共4页Wei Hou Guifang Huang Hongyu Wei Wenwei Li Houfeng Huang Yuling Qiu Hengying Zhu Huifeng Han Ping Chen Xue Zhang 
funded by the Guangxi Science and Technology Department (China) (No.Guike AD23026025).
Fetal hydrops is a rare but serious fetal developmental abnormality characterized by the abnormal accumulation of large amounts of fluid in the fetus resulting in generalized edema,and clinically manifested by abnorma...
关键词：FETAL ORGANS FETUS 
The role of SLC26A8 homozygous variants in male infertility and flagellum abnormalities
《Asian Journal of Andrology》2024年第5期544-546,共3页Bin Mao Sha-Sha Zhang Liang-Tao Zhao Hui-Rong Huang Feng-Die Ma Wen-Jing Shi Shan Li Zi-Yan Nie Han-Dan Xiao Xiao-Dong Xie Pei-Qiang Li 
support from grants provided by the Gansu Provincial Natural Science Foundation of China(23JRRA1046);the Gansu Association for Science and Technology(GSHZTS 2022-04);the National College Student Innovation and Entrepreneurship Training Program(202310730222).
Dear Editor,Solute carrier family 26 member 8(SLC26A8)gene belongs to the solute carrier 26(SLC26)family.It demonstrates distinct expression in male spermatozoa.This gene potentially plays a role in the formation of t...
关键词：INFERTILITY SLC linking 
Homozygous CCDC146 mutation causes oligoasthenoteratozoospermia in humans and mice
《Zoological Research》2024年第5期1073-1087,共15页Jing-Wei Ye Tanveer Abbas Jian-Teng Zhou Jing Chen Meng-Lei Yang Xiong-Heng Huang Huan Zhang Hui Ma Ao Ma Bo Xu Ghulam Murtaza Qing-Hua Shi Bao-Lu Shi 
supported by the National Key Research and Developmental Program of China(2021YFC2700202,2022YFC2702601,2019YFA0802600,2022YFA0806303);National Natural Science Foundation of China(32470915,32000587,32270901,82171601);Global Select Project(DJK-LX-2022010)of the Institute of Health and Medicine,Hefei Comprehensive National Science Center,Joint Fund for New Medicine of USTC(YD9100002034);Scientific Research Foundation for Scholars of the First Affiliated Hospital of USTC(RC2023054)。
Infertility represents a significant health concern,with sperm quantity and quality being crucial determinants of male fertility.Oligoasthenoteratozoospermia(OAT)is characterized by reduced sperm motility,lower sperm ...
关键词：OLIGOASTHENOTERATOZOOSPERMIA Human infertility Sperm flagellum CCDC146 Intraflagellar transport IFT20 
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