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Deficiency of MFSD6L, an acrosome membrane protein, causes oligoasthenoteratozoospermia in humans and mice
《Journal of Genetics and Genomics》2024年第10期1007-1019,共13页Dapeng Zhou Huan Wu Lingbo Wang Xuemei Wang Shuyan Tang Yiling Zhou Jiaxiong Wang Bangguo Wu Jianan Tang Xuehai Zhou Shixiong Tian Shuang Liu Mingrong Lv Xiaojin He Li Jin Hujuan Shi Feng Zhang Yunxia Cao Chunyu Liu 
This study was supported by the National Key Research and Development Program of China(2021YFC2701400 and 2023YFC2705600);the National Natural Science Foundation of China(32288101,32100480,32370654,82271639,32322017,and32200485).
Oligoasthenoteratozoospermia is an important factor affecting male fertility and has been found to be associated with genetic factors.However,there are stll a proportion of oligoasthenoteratozoospermia cases that cann...
关键词：Male fertility OLIGOASTHENOTERATOZOOSPERMIA MFSD6L ACROSOME ICSI 
PDGFRB mutation causes intracranial aneurysm
《Journal of Genetics and Genomics》2024年第9期978-981,共4页Junyu Liu Chunling Wang Enyu Huang Luming Wang Chengchao Wu Weixi Jiang Mei Wu Xiuru Zhang Junxia Yan Yeqi Wang Jingjing Zhang 
supported by the National Natural Science Foundation of China(32222028);Natural Science Foundation of Chongqing,China(CSTB2023NSCQ-MSX0505);Financial Science and Technology Project of Hunan Province,China(422000008);Hunan Province Nature Science Foundation,China(2021JJ30911).
Intracranial aneurysm(IA)is characterized by defects in the middle muscular layer and pathological dilatation of cerebral arteries.The rupture of IA,resulting in aneurysmal subarachnoid hemorrhage,poses a substantial ...
关键词：ANEURYSM RUPTURE 
Copy number variation of NAL23 causes narrow-leaf development in rice
《Journal of Genetics and Genomics》2024年第8期880-883,共4页Degui Zhou Yajing Li Xianrong Xie Wenyan Ding Libin Chen Tie Li Jianian Tang Xiyu Tan Weizhi Liu Yueqin Heng Yongyao Xie Letian Chen Qi Liu Shaochuan Zhou Jing Zhao Gong Zhang Jiantao Tan Yaoguang Liu Rongxin Shen 
supported by the Open Competition Program of the Top Ten Critical Priorities of Agricultural Science and Technology Innovation for the 14th Five-Year Plan of Guangdong Province(No.2022SDZG05)to Letian Chen;the Major Program of Guangdong Basic and Applied Research(2019B030302006);Laboratory of Lingnan Modern Agriculture Project(NT2021002)to Yaoguang Liu;the Foundation of Hainan Yazhou Bay Seed Laboratory(B23YQ1515,B23CQ15FP)to Rongxin Shen;the National Natural Science Foundation of China(32270698);the Elite Rice Plan of GDRRI(2022YG01)to Qi Liu.
Leaf shape is a key trait for plant architecture relating to photosynthesis and transpiration in plants(Lawson et al.,2020).Erect leaves with proper leaf length and width,particularly the upper three leaves in cereal ...
关键词：CROPS CEREAL NARROW 
Genetic causes of macrozoospermia and proposal for an optimized genetic diagnosis strategy based on sperm parameters
《Journal of Genetics and Genomics》2023年第7期536-540,共5页Alicia Coudert Caroline Cazin Amir Amiri-Yekta Selima Fourati Ben Mustapha Raoudha Zouari Julien Bessonat Abdelali Zoghmar Antoine Clergeau Catherine Metzler-Guillemain Chema Triki Herve Lejeune Nathalie Sermondade Eva Pipiras Nadia Prisant Isabelle Cedrin Leila Keskes Florence Lestrade Laetitia Hesters Nathalie Rives Beatrice Dorphin Agnes Guichet Catherine Patrat Emmanuel Dulioust Aur elie Feraille Franc ois Robert Eric Bieth Arthur Sorlin Jean-Pierre Siffroi Mariem Ben Khelifa Florence Boiterelle Sylvianne Hennebicq Veronique Satre Christophe Arnoult Charles Coutton Anne-Laure Barbotin Nicolas Thierry-Mieg Zine-Eddine Kherraf Pierre F.Ray 
funded by the French National Research Agency(ANR);projects MAS FLAGELLA (ANR-14-CE15-0002);FLAGELOME (ANR-19-CE17-0014);the INSERM (Institut National de la Sante et de la Recherche Medicale);Bettencourt Foundation
Macrozoospermia,characterized by the presence of largeheaded spermatozoa usually carrying several flagella,is one of the most severe phenotypes of male infertility.As in most cases,the gametes are chromosomally abnorm...
关键词：DIAGNOSIS establishing 
Corrigendum to“Absence of Serpinb6a causes progressive hair cell apoptosis and hearing loss in mice”[Journal of Genetics and Genomics(2023)50,122-125]
《Journal of Genetics and Genomics》2023年第6期458-458,共1页Cheng Cheng Jieyu Qi Liyan Zhang He Li Jie Lu Siyu Li Zhong Zhang Yue Qiu Chen Zhang Lulu Jiang Chaorong Yu Xia Gao Philip I.Bird Renjie Chai 
This corrigendum clarifies information in the article"Absence of Serpinb6a causes progressive hair cell apoptosis and hearing loss in mice"by Cheng et al.(2023).In the author list,the author"Cheng Cheng"should be corr...
关键词：al. COR HEARING 
A homozygous frameshift mutation in ADAD2 causes male infertility with spermatogenic impairments被引量：2
《Journal of Genetics and Genomics》2023年第4期284-288,共5页Shixiong Tian Ziqi Wang Liting Liu Yiling Zhou Yue Lv Dongdong Tang Jiaxiong Wang Jing Jiang Huan Wu Shuyan Tang Guanxiong Wang Hao Geng Fangbiao Tao Hongbin Liu Xiaojin He Feng Zhang Jinsong Li Li Jin Tao Huang Chunyu Liu Yunxia Cao 
supported by the National Key Research and Development Program of China(2021YFC2701400 and 2021YFC2700901);the National Natural Science Foundation of China(32100480,82171607,and 81971441);the Shanghai Municipal Science and Technology Major Project(2017SHZDZX01);the Scientific Research(TP202002)from Anhui Medical University;the China Postdoctoral Science Foundation(2020TQ0072);the Non-profit Central Research Institute Fund of Chinese Academy of Medical Sciences(2019PT310002);supported by Shanghai Municipal Commission for Science and Technology Grants(19411951800)。
Male infertility is a complex reproductive disorder that impedes a huge number of couples from having children naturally in the world(Agarwal et al.,2021).As an important pathogenic factor of male infertility,spermato...
关键词：IMPAIRED IMPAIRMENT INFERTILITY 
Infection of SARS-CoV-2 causes severe pathological changes in mouse testis被引量：1
《Journal of Genetics and Genomics》2023年第2期99-107,共9页Min Chen Shihua Li Shujun Liu Yuhang Zhang Xiuhong Cui Limin Lv Bowen Liu Aihua Zheng Qihui Wang Shuguang Duo Fei Gao 
supported by National key R&D program of China(2018YFA0107700);the National Natural Science Foundation of China(32170855,31970785);Biological Resources Program of Chinese Academy of Sciences(KFJ-BRP-005).
Coronavirus disease 2019(COVID-19),caused by severe acute respiratory syndrome coronavirus 2(SARSCoV-2),has affected more than 600 million people worldwide.Several organs including lung,intestine,and brain are infecte...
关键词：SARS-CoV-2 ACE2 Sertoli cell Leydig cell TESTIS 
HPDL deficiency causes a neuromuscular disease by impairing the mitochondrial respiration被引量：1
《Journal of Genetics and Genomics》2021年第8期727-736,共10页Yu Sun Xiujuan Wei Fang Fang Yiping Shen Haiyan Wei Jiuwei Li Xianglai Ye Yongkun Zhan Xiantao Ye Xiaomin Liu Wei Yang Yuhua Li Xiangju Geng Xuelin Huang Yiyan Ruan Zailong Qin Shang Yi Jianxin Lyu Hezhi Fang Yongguo Yu 
funded by the Precision Medical Research of National Key Research and Development Program(2018YFC1002200,2019YFC1005100 to Y.Yu,2018YFC1002400 to Y.Sun,and 2018YFC1002501 to Y.Shen);National Natural Science Foundation of China(81873633 and 82071276 to Y.Shen,81830071 to J.Lyu,81873724 to Y.Sun,and 82070914 and 81873671 to Y.Yu);Shanghai Shen Kang Hospital Development Center(SHDC12017109 to Y.Yu);the Shanghai Science and Technology Commission(19140904500 to Y.Yu);Jiaotong University Cross Biomedical Engineering(YG2017MS72 to Y.Yu);the“Eastern Scholar”Fund;the“Guangxi Bagui Scholar”fund(to Y.Shen);the Major Research Plan of the Provincial Science and Technology Foundation of Guangxi(AB16380214 to Y.Shen);Foundation of Shanghai Municipal Health Commission(shslczdzk05702,to Y.Yu and Y.Sun);Municipal Education Commission-Gaofeng Clinical Medicine Grant Support(20191908,to Y.Yu)。
Mitochondrial diseases are caused by variants in both mitochondrial and nuclear genomes.A nuclear gene HPDL(4-hydroxyphenylpyruvate dioxygenase-like),which encodes an intermembrane mitochondrial protein,has been recen...
关键词：HPDL gene Mitochondrial disease Respiration impairment OXPHOS Respiration chain complexⅡ 
A recurrent mutation in TBPL2 causes diminished ovarian reserve and female infertility被引量：2
《Journal of Genetics and Genomics》2020年第12期785-788,共4页Wen-Bin He Ya-Xin Zhang Chen Tan Lan-Lan Meng Gang Liu Yuan Li Fei Gong Bai-Lin Wu Guang-Xiu Lu Ge Lin Juan Du Yue-Qiu Tan 
This study was supported by grants from the National Key Research&Developmental Program of China(2018YFC1004901);National Natural Science Foundation of China(81771645 and 81971447);Hunan Provincial Natural Science Foundation of China(2019JJ51006);the Key Grant of Prevention and Treatment of Birth Defect from Hunan Province(2019SK1012);the Scientific Research Foundation of Reproductive and Genetic Hospital of CITIC-Xiangya grants(YNXM-201912).
Diminished ovarian reserve(DOR)is a disorder of ovarian function in which the ovary loses its normal reproductive potential,including decreasing oocyte quantity and quality.The disorder is associated with infertility ...
关键词：INFERTILITY STIMULATION al. 
Loss of Rbm24a causes defective hair cell development in the zebrafish inner ear and neuromasts
《Journal of Genetics and Genomics》2020年第7期403-406,共4页Xiaoning Cheng Jing-Jing Zhang De-Li Shi 
the National Key R&DProgram of China(grant No.2018YFA0801000);the National Natural Science Foundation of China(grant Nos.31671509 and 31900577);the Centre National de la Recherche Scientifique(CNRS),and Sorbonne University.
Zebrafish has become particularly attractive for understanding the development of vertebrate sensory organs and presents many advantages for studying hair cell differentiation and regeneration.A large number of genes ...
关键词：fish ATTRACTIVE 
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