Article
Genetics & Heredity
Yuhua Huang, Ruhui Tian, Junwei Xu, Zhiyong Ji, Yuxiang Zhang, Liangyu Zhao, Chao Yang, Peng Li, Erlei Zhi, Haowei Bai, Sha Han, Jiaqiang Luo, Jingpeng Zhao, Jing Zhang, Zhi Zhou, Zheng Li, Chencheng Yao
Summary: Through whole-exome sequencing, we identified two novel genetic variants within SYCE1 that are associated with meiotic arrest and male infertility.
BMC MEDICAL GENOMICS
(2022)
Article
Plant Sciences
Bingwen Zhou, Yuanyuan Chen, Hui Luo, Jin Qi, Boyang Yu
Summary: Maca has the potential to improve fertility and sexual function. It can alleviate the vacuolation of spermatogenic tubules and testicular lesions, promote the recovery of spermatogenic epithelium, inhibit the proliferation of stromal cells, increase the serum testosterone content, and improve the number and quality of sperm. Preliminary screening showed no significant difference in efficacy between maca polysaccharide fraction and maca extract.
JOURNAL OF ETHNOPHARMACOLOGY
(2023)
Article
Genetics & Heredity
Huan Wu, Xin Zhang, Qunshan Shen, Yiyuan Liu, Yang Gao, Guanxiong Wang, Mingrong Lv, Rong Hua, Yuping Xu, Ping Zhou, Zhaolian Wei, Fangbiao Tao, Xiaojin He, Yunxia Cao, Mingxi Liu
Summary: This study identified a homozygous nonsense mutation in FBXO43 in two brothers with NOA, shedding light on the genetic basis of male infertility and the crucial role of FBXO43 in spermatogenesis.
Article
Andrology
Massimo Romano, Federico Cirillo, Noemi Ravaioli, Emanuela Morenghi, Luciano Negri, Bulbul Ozgur, Elena Albani, Paolo Emanuele Levi-Setti
Summary: Despite impaired spermatogenesis in non-obstructive azoospermia patients, there were no substantial differences in reproductive outcomes compared to patients with obstructive azoospermia, even in terms of obstetric safety and neonatal well-being.
Article
Endocrinology & Metabolism
Qiuqin Tang, Wei Wu, Yiwen Lu, Yijie Zhou, Wangfei Wu, Jinhui Li, Lianjun Pan, Xiufeng Ling, Feng Pan
Summary: This study identified differential expression of mRNA and m(6)A methylation status in the testes of iNOA patients, showing that m(6)A expression decreased gradually with the degree of spermatogenic dysfunction. These findings provide potential novel molecular targets for studying the epigenetic mechanisms of iNOA.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Immunology
Yucheng Zhong, Jun Zhao, Hao Deng, Yaqin Wu, Li Zhu, Meiqiong Yang, Qianru Liu, Guoqun Luo, Wenmin Ma, Huan Li
Summary: This study aimed to identify autophagy-related genes (ARGs) associated with non-obstructive azoospermia and explore the underlying molecular mechanisms. A total of 46 differentially expressed ARGs were identified between the azoospermia and control groups. Eight hub genes, including EGFR, HSPA5, ATG3, KIAA0652, and MAPK1, may serve as biomarkers for the diagnosis and treatment of azoospermia.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Hossein Azizi, Danial Hashemi Karoii, Thomas Skutella
Summary: This study identified new and hub genes associated with non-obstructive azoospermia and evaluated their functional and molecular interactions. The findings provide insights into the pathophysiology of germ cell abnormalities and infertility.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Genetics & Heredity
Xiao-juan Tang, Qiao-hong Xiao, Xue-lin Wang, Yan He, Ya-nan Tian, Bin-tong Xia, Yang Guo, Jiao-long Huang, Peng Duan, Yan Tan
Summary: This study investigated the pathogenesis of non-obstructive azoospermia (NOA) and identified specific transcription factors (TFs) that play important regulatory roles in the occurrence and development of NOA.
FRONTIERS IN GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Wei-Fang Chang, Min Peng, Jing Hsu, Jie Xu, Huan-Chieh Cho, Hsiu-Mei Hsieh-Li, Ji-Long Liu, Chung-Hao Lu, Li-Ying Sung
Summary: SMN is crucial for RNA spliceosome assembly and plays important roles in stem cell biology. Overexpression of SMN enhances the proliferation and potency of SSCs, positively influencing spermatogenesis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Radiology, Nuclear Medicine & Medical Imaging
Yusuke Takahashi, Hidetaka Kioka, Shinichiro Fukuhara, Sohei Kuribayashi, Shigeyoshi Saito, Yoshihiro Asano, Seiji Takashima, Yoshichika Yoshioka, Yasushi Sakata
Summary: This study investigated the utility of CrCEST imaging in evaluating spermatogenesis and its spatial distribution, showing a strong correlation between testicular CrCEST effects and spermatogenesis.
JOURNAL OF MAGNETIC RESONANCE IMAGING
(2021)
Article
Obstetrics & Gynecology
Hamideh Karimi, Parnaz Borjian Boroujeni, Marjan Sabbaghian, Anahita Mohseni Meybodi
Summary: Genetic variations in the NANOS3 gene play a crucial role in non-obstructive azoospermia, while the mRNA expression levels of NANOS3 show significant differences among patients with obstructive azoospermia, Sertoli cell-only syndromes (SCOS), and maturation arrest (MA).
REPRODUCTIVE SCIENCES
(2022)
Review
Andrology
Yeganeh Rastgar Rezaei, Reza Zarezadeh, Saba Nikanfar, Hajar Oghbaei, Nahideh Nazdikbin, Zahra Bahrami-Asl, Nosratollah Zarghami, Yadollah Ahmadi, Amir Fattahi, Mohammad Nouri, Ralf Dittrich
Summary: miRNAs play important roles in regulating biological processes, including spermatogonial stem cell renewal and cell cycle. Abnormal expression of miRNAs may lead to NOA. Although differential expression of miRNAs in the seminal plasma of NOA patients has been reported, their roles and mechanisms in NOA pathogenesis have not been comprehensively studied.
SYSTEMS BIOLOGY IN REPRODUCTIVE MEDICINE
(2021)
Article
Genetics & Heredity
Haihong He, Fan Yu, Wang Shen, Keyan Chen, Lijun Zhang, Shuang Lou, Qiaomin Zhang, Siping Chen, Xinhua Yuan, Xingwang Jia, Yiwen Zhou
Summary: Non-obstructive azoospermia (NOA) is a significant cause of male infertility with unknown pathogenesis. This study identified hub genes related to spermatogenesis, including three novel genes. These hub genes showed differential expression in different types of sperm cells, suggesting potential important roles in spermatogenesis.
FRONTIERS IN GENETICS
(2021)
Article
Genetics & Heredity
Meng Dong, Hao Li, Xue Zhang, Jichun Tan
Summary: This study identified differentially expressed genes and signaling pathways related to non-obstructive azoospermia (NOA) using microarray data analysis. Results showed enrichment of genes involved in germ cell development and immune cell infiltration, with hub genes identified. These findings provide insights into the molecular mechanisms of NOA and potential biomarkers for further research.
FRONTIERS IN GENETICS
(2021)
Article
Multidisciplinary Sciences
Qian Ma, Ye Du, Xiaomin Luo, Jing Ye, Yaoting Gui
Summary: This study identified novel ESX1 mutations in a large cohort of Chinese males, with the p.P365R mutation potentially conferring a high risk for NOA in the Han Chinese population, likely via affecting cell cycle control. The effects of ESX1 mutations on cyclin A degradation and cell cycle progression were analyzed, with the compound mutant p.[P365R; L366V] compromising the stabilizing effect of ESX1 on polyubiquitinated cyclin A, causing failure of M phase arrest in cells. Moreover, the deleterious effect of the compound mutations on ESX1 protein function was attributed to p.P365R alteration.
SCIENTIFIC REPORTS
(2021)
Article
Andrology
Jana Capkova, Alena Kubatova, Lukas Ded, Olina Tepla, Jana Peknicova
ASIAN JOURNAL OF ANDROLOGY
(2016)
Review
Biochemistry & Molecular Biology
Pavla Dostalova, Eva Zatecka, Katerina Dvorakova-Hortova
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2017)
Article
Multidisciplinary Sciences
Miguel A. Brieno-Enriquez, Jesus Garcia-Lopez, David B. Cardenas, Sylvain Guibert, Elouan Cleroux, Lukas Ded, Juan de Dios Hourcade, Jana Peknicova, Michael Weber, Jesus del Mazo
Article
Multidisciplinary Sciences
Michaela Frolikova, Natasa Sebkova, Lukas Ded, Katerina Dvorakova-Hortova
SCIENTIFIC REPORTS
(2016)
Article
Multidisciplinary Sciences
Gabriela Pavlinkova, Hasmik Margaryan, Eva Zatecka, Eliska Valaskova, Fatima Elzeinova, Alena Kubatova, Romana Bohuslavova, Jana Peknicova
SCIENTIFIC REPORTS
(2017)
Article
Endocrinology & Metabolism
Lukas Ded, Pavla Dostalova, Eva Zatecka, Andrej Dorosh, Katerina Komrskova, Jana Peknicova
REPRODUCTIVE BIOLOGY AND ENDOCRINOLOGY
(2019)
Article
Reproductive Biology
Pavla Dostalova, Eva Zatecka, Lukas Ded, Fatima Elzeinova, Eliska Valaskova, Alena Kubatova, Vlasta Korenkova, Lucie Langerova, Katerina Komrskova, Jana Peknicova
REPRODUCTIVE TOXICOLOGY
(2020)
Article
Biology
Lukas Ded, Jae Yeon Hwang, Kiyoshi Miki, Huanan F. Shi, Jean-Ju Chung
Article
Multidisciplinary Sciences
Ondrej Kucera, Valerie Siahaan, Daniel Janda, Sietske H. Dijkstra, Eliska Pilatova, Eva Zatecka, Stefan Diez, Marcus Braun, Zdenek Lansky
Summary: Cytokinetic ring constriction during cell division requires actin but curiously is independent of myosin in many organisms. Here, the authors show that anillin, a protein enriched in the contractile ring, is a non-motor actin crosslinker that generates contractile force in lieu of a molecular motor. By maximizing the lengths of overlaps between bundled actin filaments, anillin autonomously propels the contractility of actin bundles.
NATURE COMMUNICATIONS
(2021)
Article
Endocrinology & Metabolism
Eva Zatecka, Romana Bohuslavova, Eliska Valaskova, Hasmik Margaryan, Fatima Elzeinova, Alena Kubatova, Simona Hylmarova, Jana Peknicova, Gabriela Pavlinkova
Summary: This study demonstrates that paternal exposure to type 2 diabetes can have intergenerational and transgenerational effects on the reproductive health of offspring, especially on sperm quality and metabolic characteristics. These changes likely manifest as inherited epigenetic marks through the germline, leading to a lasting impact on subsequent generations. Therefore, improving metabolic health is crucial not only for women of reproductive age but also for potential fathers in order to mitigate the negative effects of diabetes on future generations.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Alberto de la Iglesia, Paula Jauregi, Meritxell Jodar, Ferran Barrachina, Lukas Ded, Carme Mallofre, Leonardo Rodriguez-Carunchio, Juan Manuel Corral, Josep Lluis Ballesca, Katerina Komrskova, Judit Castillo, Rafael Oliva
Summary: The study reveals the dual behavior of H4K5bu and H4K5ac in human spermatogenesis, with both modifications present at different stages of sperm development. These modifications remain stable under different testicular pathologies and are retained in ejaculated sperm. However, no direct association between these modifications and sperm quality was observed.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Multidisciplinary Sciences
Jana Vondrakova, Michaela Frolikova, Lukas Ded, Jiri Cerny, Pavla Postlerova, Veronika Palenikova, Ondrej Simonik, Zuzana Nahacka, Krystof Basus, Eliska Valaskova, Radek Machan, Allan Pacey, Zuzana Holubcova, Pavel Koubek, Zuzana Ezrova, Soojin Park, Ruiwu Liu, Raghavendran Partha, Nathan Clark, Jiri Neuzil, Masahito Ikawa, Kent Erickson, Kit S. Lam, Harry Moore, Katerina Komrskova
Summary: This study identified a previously unidentified receptor, MAIA, which plays a major role in sperm-egg adhesion and fusion during mammalian fertilization. MAIA forms a stable interaction with the known IZUMO1/JUNO sperm-egg complex, allowing specific gamete fusion. The complexity of MAIA may provide a cryptic sexual selection mechanism to avoid genetic incompatibility and achieve favorable fitness outcomes.
Article
Biology
Lukas Ded, Jean-Ju Chung
Summary: Mammalian sperm cells need time and specific spatial conditions for capacitation to occur in vivo, resulting in highly homogeneous, fertilization-capable sperm at the fertilization site. In contrast, in vitro sperm capacitation studies may not accurately reflect the fertilizing capacity of sperm due to molecular and functional heterogeneity.