Article
Cell Biology
Bingbing Wu, Xiaochen Yu, Chao Liu, Lina Wang, Tao Huang, Gang Lu, Zi-Jiang Chen, Wei Li, Hongbin Liu
Summary: The Cfap53 gene is crucial for sperm flagellum biogenesis, with its knockout resulting in male infertility. CFAP53 was shown to localize to the manchette and sperm tail during spermiogenesis, playing an important role in flagellum formation.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Anatomy & Morphology
Yubei Chen, Qiqi Fan, Han Zhang, Dike Tao, Yibin Wang, Rui Yue, Yao Sun
Summary: The study found that IFT140-positive cells mainly contribute to the early stage of bone formation, with their numbers decreasing significantly later on and only briefly located in the bone marrow cavity. Deletion of IFT140 in preosteoblasts resulted in bone loss in the trabecular bone area at 10 weeks.
DEVELOPMENTAL DYNAMICS
(2021)
Article
Obstetrics & Gynecology
Qi Li, Yize Wang, Wei Zheng, Jing Guo, Shunji Zhang, Fei Gong, Guang-Xiu Lu, Ge Lin, Jing Dai
Summary: Deficiency in IQCN causes sperm flagellar assembly defects and male infertility. Biallelic variants in IQCN were identified in infertile men, and the affected sperm showed irregular flagellar structure and abnormal sperm parameters. A mouse model confirmed these findings, and IQCN-binding proteins involved in flagellar assembly were also identified.
HUMAN REPRODUCTION
(2023)
Article
Biochemistry & Molecular Biology
Yan-Nan Chi, Rui-Juan Ye, Jia-Mei Yang, Dong-Mei Hai, Ning Liu, Jia-Wei Ren, Juan Du, Xiao-Bing Lan, Jian-Qiang Yu, Lin Ma
Summary: The study found that geniposide can improve spermatogenic dysfunction induced by cyclophosphamide in mice, increase sperm quantity and activity, alleviate sperm DNA damage and endoplasmic reticulum stress, inhibit cell apoptosis, and protect the testis.
CHEMICO-BIOLOGICAL INTERACTIONS
(2022)
Article
Genetics & Heredity
Ming Zhao, Wen-Xiao Yu, Sheng-Jing Liu, Ying-Jun Deng, Zi-Wei Zhao, Jun Guo, Qing-He Gao
Summary: This study preliminarily explores the relationship between SD and cuproptosis and develops an effective predictive model.
FRONTIERS IN GENETICS
(2023)
Editorial Material
Biochemistry & Molecular Biology
Takashi Ishikawa
Summary: Two studies have revealed the atomic structure of IFT-B, showcasing the arrangement of its component proteins and the dynamic interplay between them, using cutting-edge technology.
Article
Dentistry, Oral Surgery & Medicine
Shuang Zhou, Gongchen Li, Tingting Zhou, Shuai Zhang, Hui Xue, Jiangyu Geng, Wenjing Liu, Yao Sun
Summary: The study found that ciliary intraflagellar transporter protein 140 (IFT140) plays a positive role in promoting extraction socket healing. Compared to the control group, the experimental group with reduced IFT140 levels showed delayed healing and decreased proliferation and osteogenic differentiation ability of alveolar bone marrow stromal cells (aBMSCs).
Review
Cell Biology
Saffet Ozturk
Summary: Spermatogenic arrest in non-obstructive azoospermia (NOA) involves interruption of spermatogenesis at different stages, which has been investigated through genome/exome sequencing to identify genetic variants. Variants in genes related to mitosis, meiosis, germline differentiation, and cellular events have been discovered. This review comprehensively discusses defined variants in NOA cases with spermatogenic arrest and the creation of knockout mouse models for related genes, as well as emphasizes the importance of gene panel-based screening for NOA cases.
Review
Biochemistry & Molecular Biology
Valentina Annamaria Genchi, Erica Rossi, Celeste Lauriola, Rossella D'Oria, Giuseppe Palma, Anna Borrelli, Cristina Caccioppoli, Francesco Giorgino, Angelo Cignarelli
Summary: Obesity is associated with metabolic derangements and comorbidities, leading to impaired testicular function. Multiple mechanisms may negatively affect hypothalamic-pituitary-gonadal health. In addition, androgen deficiency may worsen obesity and exacerbate hypogonadism.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Health Care Sciences & Services
Miriam Cervan-Martin, Lara Bossini-Castillo, Rocio Rivera-Egea, Nicolas Garrido, Saturnino Lujan, Gema Romeu, Samuel Santos-Ribeiro, Jose A. Castilla, M. Carmen Gonzalvo, Ana Clavero, F. Javier Vicente, Andrea Guzman-Jimenez, Claudia Costa, Ines Llinares-Burguet, Chiranan Khantham, Miguel Burgos, Francisco J. Barrionuevo, Rafael Jimenez, Josvany Sanchez-Curbelo, Olga Lopez-Rodrigo, M. Fernanda Peraza, Iris Pereira-Caetano, Patricia I. Marques, Filipa Carvalho, Alberto Barros, Lluis Bassas, Susana Seixas, Joao Goncalves, Sara Larriba, Alexandra M. Lopes, Rogelio J. Palomino-Morales, F. David Carmona
Summary: The study identified a significant difference in allele frequencies of USP8-rs7174015 between the NOA group, the control group, and the SO group, suggesting a possible association of this gene with male infertility. Other genetic associations were found for EPSTI1-rs12870438 and PSAT1-rs7867029 with SO, as well as TUSC1-rs10966811 with TESE success in the context of non-obstructive azoospermia.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Review
Genetics & Heredity
Aminata Toure, Guillaume Martinez, Zine-Eddine Kherraf, Caroline Cazin, Julie Beurois, Christophe Arnoult, Pierre F. Ray, Charles Coutton
Summary: Spermatozoa require a specialized structure like the flagellum for successful fertilization. Defects in the flagellum, such as MMAF, can lead to male infertility by affecting sperm motility, and recent studies have identified genetic factors contributing to this condition.
Article
Biochemistry & Molecular Biology
Jiyeon Ham, Seungkwon You, Whasun Lim, Gwonhwa Song
Summary: The study found that pyridaben has negative effects on mouse testicular cells, including inhibiting cell proliferation, disrupting calcium homeostasis, affecting cell cycle, steroidogenesis, and spermatogenesis, as well as dysregulating intracellular signaling pathways. These results indicate that pyridaben can induce testicular toxicity and male reproductive abnormalities through mitochondrial dysfunction, endoplasmic reticulum stress, and calcium imbalance.
PESTICIDE BIOCHEMISTRY AND PHYSIOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Eliana Pintus, Jose Luis Ros-Santaella
Summary: Oxidative stress in the male reproductive system can impair sperm fertility, compromise offspring health, and induce oxidative damage to lipids, proteins, and nucleic acids. While a clear link has been shown in humans and laboratory rodents, limited information is available on the impact of impaired redox homeostasis in male fertility of domestic and wild animals. Strategies to mitigate the detrimental effects of oxidative stress on male fertility are reviewed, along with their potential economic and ecological implications in the livestock industry and biodiversity conservation.
Article
Andrology
Jisheng Wang, Binghao Bao, Fanchao Meng, Sheng Deng, Hengheng Dai, Junlong Feng, Haisong Li, Bin Wang
Summary: The study showed that Levocarnitine may operate via the PI3K/AKT signalling pathway to decrease apoptosis in GC-1 spg cells, thus improving sperm count and motility. This suggests a potential mechanism through which Levocarnitine could treat spermatogenic dysfunction by targeting the PI3K/AKT pathway.
Article
Andrology
Miriam Cervan-Martin, Lara Bossini-Castillo, Andrea Guzman-Jimenez, Rocio Rivera-Egea, Nicolas Garrido, Saturnino Lujan, Gema Romeu, Samuel Santos-Ribeiro, Jose Antonio Castilla, Maria del Carmen Gonzalvo, Ana Clavero, Vicente Maldonado, Francisco Javier Vicente, Miguel Burgos, Rafael Jimenez, Sara Gonzalez-Munoz, Josvany Sanchez-Curbelo, Olga Lopez-Rodrigo, Iris Pereira-Caetano, Patricia Isabel Marques, Filipa Carvalho, Alberto Barros, Lluis Bassas, Susana Seixas, Joao Goncalves, Sara Larriba, Alexandra Manuel Lopes, Rogelio Jesus Palomino-Morales, Francisco David Carmona
Summary: The study found that there is a genetic association between KATNAL1 gene polymorphisms and severe male infertility. Specific allelic combinations may increase the risk of developing severe male infertility phenotypes.
Article
Genetics & Heredity
Yankun Sha, Yanwei Sha, Wensheng Liu, Xingshen Zhu, Mingxiang Weng, Xinzong Zhang, Yifeng Wang, Huiliang Zhou
Summary: This study revealed that mutations in the CFAP58 gene are associated with MMAF, and ICSI is an effective treatment for this condition.
Article
Genetics & Heredity
Xiaoli Wei, Wensheng Liu, Xingshen Zhu, Youzhu Li, Xiaoya Zhang, Jing Chen, Vladimir Isachenko, Yanwei Sha, Zhongxian Lu
Summary: The study identified biallelic mutations in KATNAL2 causing male infertility, particularly in cases of OAT. This finding enriches the spectrum of genetic defects associated with OAT and may improve genetic screening and clinical diagnosis accuracy for the condition.
Article
Cell Biology
Yanwei Sha, Wensheng Liu, Lin Li, Mario Serafimovski, Vladimir Isachenko, Youzhu Li, Jing Chen, Bangrong Zhao, Yifeng Wang, Xiaoli Wei
Summary: This study identified pathogenic variants in the X-linked gene ACTRT1 in patients with acephalic spermatozoa syndrome, suggesting that mutations in this gene may contribute to the syndrome. Knockout mice of Actrt1 showed a similar phenotype, supporting this hypothesis. The findings provide valuable insights for clinicians and researchers on the genetic etiology and therapeutic strategies for patients with acephalic spermatozoa syndrome.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Genetics & Heredity
Chen Tan, Lanlan Meng, Mingrong Lv, Xiaojin He, Yanwei Sha, Dongdong Tang, Yaqi Tan, Tongyao Hu, Wenbin He, Chaofeng Tu, Hongchuan Nie, Huan Zhang, Juan Du, Guangxiu Lu, Li-qing Fan, Yunxia Cao, Ge Lin, Yue-Qiu Tan
Summary: This study identified a new gene, DNHD1, associated with asthenoteratozoospermia and demonstrated that bi-allelic DNHD1 variants cause reduced sperm motility and abnormal morphology. Further research revealed the biological function of DNHD1 and the mechanisms related to sperm development.
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Andrology
You-Zhu Li, Na Li, Wen-Sheng Liu, Yan-Wei Sha, Rong-Feng Wu, Ya-Ling Tang, Xing-Shen Zhu, Xiao-Li Wei, Xiao-Ya Zhang, Yi-Feng Wang, Zhong-Xian Lu, Fu-Xing Zhang
Summary: Acephalic spermatozoa syndrome is a rare type of teratozoospermia that severely impairs the reproductive ability of male patients. This study identifies SPATC1L as a novel gene for human acephalic spermatozoa syndrome and suggests that SPATC1L defects might affect early embryonic development.
ASIAN JOURNAL OF ANDROLOGY
(2022)
Article
Plant Sciences
Meili Guo, Xin Liu, Jiahui Wang, Yusu Jiang, Jinhuan Yu, Jing Gao
Summary: Heat stress is an environmental challenge that reduces plant productivity and growth. Plants have developed mechanisms to adapt to this stress, involving specific gene regulation. Through bioinformatics analysis, differentially expressed genes in response to heat stress were identified and their functions and interactions were revealed.
JOURNAL OF PLANT INTERACTIONS
(2022)
Article
Reproductive Biology
Yongjie Chen, Xiu Chen, Haihang Zhang, Yanwei Sha, Ranran Meng, Tianyu Shao, Xiaoyan Yang, Pengpeng Jin, Yinghua Zhuang, Wanping Min, Dan Xu, Zhaodi Jiang, Yuhua Li, Lin Li, Wentao Yue, Chenghong Yin
Summary: During spermiogenesis, the formation of the mitochondrial sheath plays a critical role in male fertility. However, the molecular processes underlying the development of the mitochondrial sheath remain unclear. This study investigated the function of TBC1D21 in spermiogenesis and demonstrated that TBC1D21 is required for the assembly and stabilization of the mitochondrial sheath. The findings suggest that TBC1D21 functions as a scaffold protein and interacts with multiple proteins to regulate the architecture of the sperm midpiece.
BIOLOGY OF REPRODUCTION
(2022)
Article
Genetics & Heredity
Wensheng Liu, Xiaoli Wei, Xiaoyan Liu, Gaowen Chen, Xiaoya Zhang, Xiaomei Liang, Vladimir Isachenko, Yanwei Sha, Yifeng Wang
Summary: This study provides the first evidence that defects in ARMC12 cause asthenozoospermia and multiple midpiece defects in humans. The role of ARMC12 in sperm motility is elucidated through genetic analysis, tissue observation, and animal experiments.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Multidisciplinary Sciences
Jiahui Wang, Xin Liu, Hongjin Chu, Jian Chen
Summary: This study revealed the elevated expression of CDCA2 in hepatocellular carcinoma (HCC) and its association with worse prognosis. CDCA2 promoted the proliferation, clonogenic ability, and migration of HCC cells, while inhibiting apoptosis in a p53/p21-dependent manner. The study also showed that targeting CDCA2 could reduce chemoresistance in HCC cells. The findings suggest that CDCA2 could be a potential target for HCC treatment.
Article
Oncology
Jiahui Wang, Hongjin Chu, Zhixin Wang, Xuebo Wang, Xuexia Liu, Zhan Song, Fujun Liu
Summary: This study confirmed the pro-tumorigenesis role of CMTM3 in hepatocellular carcinoma (HCC), possibly through upregulation of PPAR gamma and activation of the PPAR pathway.
Article
Andrology
Yanwei Sha, Wensheng Liu, Songxi Tang, Xiaoya Zhang, Ziyi Xiao, Yuwei Xiao, Hongjing Deng, Huiliang Zhou, Xiaoli Wei
Summary: A mutation in the TENT5D gene has been identified as the cause of OAT and male infertility, and this condition can be improved through ICSI treatment.
Article
Endocrinology & Metabolism
Yanwei Sha, Wensheng Liu, Hua Nie, Lu Han, Chunjie Ma, Xiaoya Zhang, Ziyi Xiao, Weibing Qin, Xiaoming Jiang, Xiaoli Wei
Summary: Asthenozoospermia, the common cause of male infertility, was found to be caused by a homozygous DNALI1 mutation in a consanguineous family. This mutation impaired the integration of axoneme structure and affected sperm motility, leading to asthenoteratozoospermia. The patient was able to have a child through intracytoplasmic sperm injection treatment. This study demonstrates the importance of DNALI1 mutation in human fertility.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Andrology
Zhan Song, Jiahui Wang, Peng Zhu, Zhixin Wang, Xuexia Liu, Fujun Liu
Summary: This study aims to explore the molecular mechanism of melatonin (Mel) as a protector of male fertility against cyclophosphamide (CP)-induced cytotoxicity. The results showed that Mel can protect the testis from CP-induced DNA damage to germ cells by alleviating pyroptosis.
Letter
Medicine, General & Internal
Yanwei Sha, Lin Li, Chenghong Yin
NEW ENGLAND JOURNAL OF MEDICINE
(2022)
Article
Oncology
Jiahui Wang, Xin Liu, Hong-jin Chu, Ning Li, Liu-ye Huang, Jian Chen
Summary: This study revealed elevated expression of CENP-I in gastric cancer tissues, which was associated with malignant features and poor prognosis in patients. The results also indicated that CENP-I promoted cell proliferation, inhibited apoptosis, and facilitated cell migration in gastric cancer cell lines.
TECHNOLOGY IN CANCER RESEARCH & TREATMENT
(2021)