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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 
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 
Development of a single transcript CRISPR/Cas9 toolkit for efficient genome editing in autotetraploid alfalfa
《The Crop Journal》2024年第3期788-795,共8页Haixia Zhao Siyi Zhao Yingping Cao Xiping Jiang Lijuan Zhao Zhimeng Li Mengqi Wang Ruijuan Yang Chuanen Zhou Zhaoming Wang Feng Yuan Dongmei Ma Hao Lin Wenwen Liu Chunxiang Fu 
supported by the Strategic Priority Research Program of the Chinese Academy of Sciences(XDA26030301);Hohhot Key R&D Project(2023-JBGSS-1),the National Natural Science Foundation of China(U23A200206,32071864,32325035);the Taishan Scholar Program of Shandong(to Chunxiang Fu);the Shandong Provincial Natural Science Foundation(ZR202210270038)。
Alfalfa(Medicago sativa.L.)is a globally significant autotetraploid legume forage crop.However,despite its importance,establishing efficient gene editing systems for cultivated alfalfa remains a formidable challenge.I...
关键词：ALFALFA Gene editing CRISPR_2.0 toolkit Hairy root system Tetra-allelic homozygous mutants 
A novel homozygous missense variant in ARSK causes MPS X,a new subtype of mucopolysaccharidosis
《Genes & Diseases》2024年第3期87-90,共4页Miao Sun Cornelia K.Kaminsky Philip Deppe Mai-Brittllse Frederic M.Vaz Barbara Plecko Torben Lubke Linda M.Randolph 
Mucopolysaccharidoses(MPS)are a group of rare inborn errors of metabolism caused by defective lysosomal enzymes which prevent cells from degrading and recycling certain carbohydrates and fats,resulting in the storage ...
关键词：metabolism doses polys 
RDH12-associated retinal degeneration caused by a homozygous pathogenic variant of 146C>T and literature review
《International Journal of Ophthalmology(English edition)》2024年第2期311-316,共6页Jin Li Yi-Qun Hu Hong-Bo Cheng Ting Wang Long-Hao Kuang Tao Huang Xiao-He Yan 
Supported by Shenzhen Science and Technology Program,Shenzhen,China(No.JCYJ20200109145001814,No.SGDX20211123120001001);the National Natural Science Foundation of China(No.81970790);Sanming Project of Medicine in Shenzhen(No.SZSM202011015).
AIM:To describe the clinical,electrophysiological,and genetic features of an unusual case with an RDH12 homozygous pathogenic variant and reviewed the characteristics of the patients reported with the same variant.MET...
关键词：RDH12 gene inherited retinal degeneration homozygous pathogenic variant clinical feature multi-mode imaging 
The role of homozygous LOF variant of the PNLDC1 gene in oligo-astheno-teratozoospermia(OAT)and male infertility
《Asian Journal of Andrology》2023年第6期754-755,共2页Zi-Xin Cheng Li Du Zuping He 
This work was funded by the grant from the National Natural Science Foundation of China(No.32170862).
Dear Editor,An interesting article from Zhao et al.recently published in Asian Journal of Andrology,has shown the association of a novel loss-of function(LOF)variant in PARN-like ribonuclease domain-containing exonucl...
关键词：INFERTILITY LOF terat 
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