Article
Genetics & Heredity
Wei Zheng, Huiling Hu, Jing Dai, Shuoping Zhang, Yifan Gu, Can Dai, Jing Guo, Xinxin Xu, Yuan Li, Shunji Zhang, Liang Hu, Fei Gong, Guangxiu Lu, Ge Lin
Summary: The study identified 13 novel variants in SCMC genes from infertile females with recurrent preimplantation embryonic arrest. These findings expand the genetic and phenotypic spectrum of SCMC genes associated with human embryogenesis, potentially aiding in the genetic diagnosis of female infertility.
Article
Genetics & Heredity
Jian Han, Nana Zhang, Qiqi Cao, Xiaodan Shi, Congjing Wang, Ximan Rui, Jie Ding, Chun Zhao, Junqiang Zhang, Xiufeng Ling, Hong Li, Yichun Guan, Qingxia Meng, Ran Huo
Summary: Successful human reproduction requires normal oocyte maturation, fertilization, and early embryo development. NLRP7 variants were found to be associated with early embryo arrest, and this study identified five heterozygous variants of NLRP7 in infertile patients who experienced early embryo arrest. The study also demonstrated that NLRP7 variants can influence oocyte quality and early embryo development, providing a new genetic marker for clinical early embryo arrest patients.
JOURNAL OF MOLECULAR MEDICINE-JMM
(2023)
Article
Obstetrics & Gynecology
Lingli Huang, Fengsong Wang, Shuai Kong, Yu Wang, Gaojie Song, Fangting Lu, Jingjuan Ji, Lihua Luo, Xianhong Tong
Summary: This study identified two novel mutations in CDC20, expanding the mutation spectrum of this gene. Biallelic mutations in CDC20 occur in a proportion of infertile females with oocyte maturation abnormality and early embryonic arrest, as confirmed by the findings.
REPRODUCTIVE SCIENCES
(2021)
Article
Obstetrics & Gynecology
Weijie Wang, Wenjing Wang, Yao Xu, Juanzi Shi, Jing Fu, Biaobang Chen, Jian Mu, Zhihua Zhang, Lin Zhao, Jing Lin, Jing Du, Qiaoli Li, Lin He, Li Jin, Xiaoxi Sun, Lei Wang, Qing Sang
Summary: This study identified three pathogenic variants in FBXO43 that are associated with early embryonic arrest in humans. By investigating the effects of these variants in cells and mouse oocytes, a causal relationship between FBXO43 and female infertility was established. These findings contribute to understanding the role of FBXO43 in human early embryonic development and provide a new genetic marker for female infertility.
HUMAN REPRODUCTION
(2021)
Review
Developmental Biology
Daniela Bebbere, David F. Albertini, Giovanni Coticchio, Andrea Borini, Sergio Ledda
Summary: The subcortical maternal complex (SCMC) is a crucial biological structure for the initial stages of embryogenesis in mammals, inherited maternally and conserved across mammalian species. Recent advances have linked SCMC to human infertility and offspring health, prompting further investigation into its roles. While the underlying molecular mechanisms are still not fully understood, new avenues of research have been proposed.
MOLECULAR HUMAN REPRODUCTION
(2021)
Review
Developmental Biology
Daniela Bebbere, David F. Albertini, Giovanni Coticchio, Andrea Borini, Sergio Ledda
Summary: The subcortical maternal complex (SCMC) is crucial for the initial stages of embryogenesis in mammals, being involved in various functions such as meiotic spindle formation, translation regulation, organelle redistribution and epigenetic reprogramming, with its underlying molecular mechanisms yet to be fully understood. Recent studies have confirmed its role in human infertility and unexpected relationship with offspring health, while also revealing new components and interactions with additional cell constituents.
MOLECULAR HUMAN REPRODUCTION
(2021)
Article
Obstetrics & Gynecology
Yang Zeng, Juanzi Shi, Shiru Xu, Rong Shi, Tonghua Wu, Hongyan Li, Xia Xue, Yuanchang Zhu, Biaobang Chen, Qing Sang, Lei Wang
Summary: Mutations in the MOS gene were found to be associated with female infertility characterized by preimplantation embryonic arrest. These mutations affect the protein levels and phosphorylation abilities of MOS, impacting human oocyte meiosis and embryonic development.
HUMAN REPRODUCTION
(2022)
Article
Cell Biology
Lin Zhao, Yichun Guan, Qingxia Meng, Weijie Wang, Ling Wu, Biaobang Chen, Jijun Hu, Jiawei Zhu, Zhihua Zhang, Jian Mu, Yao Chen, Yiming Sun, Tianyu Wu, Wenjing Wang, Zhou Zhou, Jie Dong, Yang Zeng, Ruyi Liu, Qiaoli Li, Jing Du, Yanping Kuang, Qing Sang, Lei Wang
Summary: Mutations in the CDC20 gene play a crucial role in oocyte maturation and fertilization, leading to various infertility phenotypes. This study expands the spectrum of known mutations in CDC20 and provides new evidence for its involvement in female infertility characterized by oocyte maturation arrest and fertilization failure.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Genetics & Heredity
Jing Zhang, Suping Li, Fei Huang, Ru Xu, Dao Wang, Tian Song, Boluo Liang, Dan Liu, Jianlin Chen, Xiaobo Shi, Hua-Lin Huang
Summary: This study aimed to identify novel variants in the TUBB8 gene and examine their phenotypic effects on microtubule network structure in vitro. Whole-exome sequencing analysis was performed in two families with infertility, and a compound heterozygous mutation and a benign heterozygous variant in TUBB8 were detected. Immunofluorescence analysis showed that the compound heterozygous mutation significantly disrupted microtubule structure.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2023)
Article
Obstetrics & Gynecology
Antonio Capalbo, Silvia Buonaiuto, Matteo Figliuzzi, Gianluca Damaggio, Laura Girardi, Silvia Caroselli, Maurizio Poli, Cristina Patassini, Murat Cetinkaya, Beril Yuksel, Ajuna Azad, Marie Louise Grondahl, Eva R. Hoffmann, Carlos Simon, Vincenza Colonna, Semra Kahraman
Summary: This study identified new and known genes associated with infertility through case selection and whole-exome sequencing analysis, providing important clues for further research.
REPRODUCTIVE BIOMEDICINE ONLINE
(2022)
Article
Genetics & Heredity
Ping Yang, Changjian Yin, Mei Li, Shuiying Ma, Yongzhi Cao, Changming Zhang, Tailai Chen, Han Zhao
Summary: This study revealed a large number of variants of the TUBB8 gene in infertile females with oocyte or embryonic defects, broadening the mutational and phenotypic spectra of TUBB8 variants. The results further confirmed the critical role of TUBB8 in oocyte maturation, fertilization, and early embryonic development.
Article
Genetics & Heredity
Xiang Wang, Ruixi Zhou, Xiaowei Lu, Siyu Dai, Mohan Liu, Chuan Jiang, Yanting Yang, Ying Shen, Yan Wang, Hanmin Liu
Summary: This study identified mutations in the PABPC1L gene that are associated with oocyte maturation abnormalities and early embryonic arrest, highlighting the essential role of PABPC1L in human female fertility.
Review
Genetics & Heredity
Zahra Anvar, Imen Chakchouk, Hannah Demond, Momal Sharif, Gavin Kelsey, Ignatia B. Van den Veyver
Summary: Genomic imprinting is an epigenetic process affecting development, with multi-locus imprinting disturbances possibly leading to disorders. Pathogenic gene variants can cause rare embryonic and reproductive issues.
Article
Genetics & Heredity
Ting Zhang, Peng Liu, Guanfeng Yao, Xin Zhang, Cuijuan Cao
Summary: This study found that mutations in the PADI6 gene caused the arrest of embryos at the 1- or 2-cell stage. This finding adds to the evidence that PADI6 gene mutations cause early embryo arrest in humans.
FRONTIERS IN GENETICS
(2023)
Article
Genetics & Heredity
Lingli Huang, Yu Wang, Fangting Lu, Qi Jin, Gaojie Song, Jingjuan Ji, Lihua Luo, Rentao Jin, Xianhong Tong
Summary: This study aimed to identify genetic causes of primary infertility in 12 women with oocyte maturation abnormality. Novel mutations in NLRP5 and PATL2 were found, expanding the mutational and phenotypic spectrum of both genes. The NLRP5 mutations associated with oocyte maturation abnormality in humans were reported for the first time.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2022)
Article
Medical Laboratory Technology
Wen-Ping Han, Ling Huang, Yuan-Yuan Li, Yuan-Yuan Han, Di Li, Bang-Quan An, Sheng-Wen Huang
CLINICAL BIOCHEMISTRY
(2019)
Article
Medical Laboratory Technology
Li Hu, Ling Huang, Yuanyuan Han, Tingting Jin, Juan Liu, Minmin Jiang, Xingmei Liu, Yuanyuan Li, Wenping Han, Bangquan An, Shengwen Huang
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2020)
Article
Medical Laboratory Technology
Li Hu, Xike Wang, Tingting Jin, Yuanyuan Han, Juan Liu, Minmin Jiang, Shujuan Yan, Xiaoling Fu, Bangquan An, Shengwen Huang
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2020)
Article
Biochemistry & Molecular Biology
Juan Liu, Zongjian Tan, Jun He, Tingting Jin, Yuanyuan Han, Li Hu, Jukun Song, Shengwen Huang
BIOSCIENCE REPORTS
(2020)
Article
Hematology
Yunxiao Ren, Junwei Zhu, Yuanyuan Han, Pin Li, Jing Wu, Hongzhu Qu, Zhaojun Zhang, Xiangdong Fang
Summary: This study uncovered the coordinated regulatory functions of lncRNAs and chromatin accessibility in erythroid differentiation by integrating RNA-seq and ATAC-seq data. Specific lncRNAs and transcription factors were identified to associate with chromatin accessibility during erythroid differentiation, highlighting their roles in the process. The study provides novel insights into the network of lncRNAs and chromatin accessibility in erythropoiesis, shedding light on the mechanisms underlying erythroid differentiation.
Article
Immunology
Tingting Jin, Zhaojun Zhang, Yuanyuan Han, Di Li, Juan Liu, Minmin Jiang, Junwei Zhu, Ryo Kurita, Yukio Nakamura, Fangfang Hu, Yongjie Xu, Xiangdong Fang, Shengwen Huang, Zhaolin Sun
Summary: Overexpression and knockdown of ANTXR1 decrease and increase gamma-globin expression, respectively. ANTXR1 regulates the reactivation of fetal hemoglobin through interaction with LRP6 to promote the nuclear entry of beta-catenin and activate the Wnt/beta-catenin signaling pathway.
JOURNAL OF IMMUNOLOGY RESEARCH
(2022)
Article
Hematology
Yuanyuan Han, Ling Huang, Man Zhou, Xiaoyu Tan, Shangjin Gong, Zhaojun Zhang, Tingting Jin, Xiangdong Fang, Yankai Jia, S. W. Huang
Summary: This study provides the profiles of in vivo transcriptome differences of nucleated red blood cells (NRBCs) between preterm and full-term neonates for the first time, and identifies novel research targets for beta-hemoglobinopathies.