CAUSE

作品数：608被引量：1158H指数：15
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Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5%of 320 families with steroid-resistant nephrotic syndrome
《Genes & Diseases》2025年第2期25-28,共4页Ronen Schneider Shirlee Shril Florian Buerger Konstantin Deutsch Kirollos Yousef Camille N.Frank Ana C.Onuchic-Whitford Thomas M.Kitzler Youying Mao Verena Klambt Muhammad Y.Zahoor Katharina Lemberg Amar J.Majmundar Bshara Mansour Ken Saida Steve Seltzsam Caroline M.Kolvenbach Lea Maria Merz Nils D.Mertens Tobias Hermle Nina Mann Dalia Pantel Abdul A.Halawi Aaron Bao Luca Schierbaum Sophia Schneider Daanya Salmanullah Iddo Z.Ben Dov Itamar Sagiv Loai A.Eid Hazem Subhi H.Awad Muna Al Saffar Neveen A.Soliman Marwa M.Nabhan Jameela A.Kari Sherif El Desoky Mohamed A.Shalaby Said Ooda Hanan M.Fathy Shrikant Mane Richard P.Lifton Michael J.G.Somers Friedhelm Hildebrandt 
supported by grants from the National Institutes of Health (NIH) (No.5R01DK076683-13,RC2-DK122397 to F.H.);Sequencing and data processing were performed by the Yale Centers for Mendelian Genomics funded by the National Human Genome Research Institute (No.U54 HG006504);supported by the Office of Faculty Development.K.Y.,C.N.F.,and N.D.M.are supported by an NIH Training Grant (No.5T32DK007726);by the 2017 Post-doctoral Fellowship Grant from the Harvard Stem Cell Institute.A.C.O.acknowledges support from the National Institutes of Health F32 Ruth L.Kirschstein Postdoctoral Individual National Research Service Award (No.DK122766);supported by a Post-Doctoral Fellowship award from the KRESCENT Program,a national kidney research training partnership of the Kidney Foundation of Canada,the Canadian Society of Nephrology,and the Canadian Institutes of Health Research.V.K.is funded by the Deutsche Forschungsgemeinschaft grant (No.403877094);supported by a Fulbright Scholar fellowship (USEFP).K.L.is funded by the Deutsche Forschungsgemeinschaft Research Foundation (No.DFG461126211);supported by the NIH (No.5K12HD052896-13,1K08DK125768-01A1);American Society of Nephrology Norman Siegel Research Scholar Grant,and Manton Center for Orphan Disease Research;supported by the Deutsche Forschungsgemeinschaft (German Research Foundation,No.442070894);supported by a grant from the Deutsche Forschungsgemeinschaft (German Research Foundation,No.KO 6579/2-1);supported by funding from the National Institutes of Health (No.K08-DK127011);supported by the Jiang-Li Family Foundation.
Steroid-resistant nephrotic syndrome(SRNS)is a leading cause of pediatric end-stage renal disease.Monogenic causes have been detected in 11%-45%of pediatric SRNS using exome sequencing,1-3 leaving a large proportion o...
关键词：PEDIATRIC nephrotic RESISTANT 
Newly identified intronic and known pathogenic point mutations in SLC34A3/NPT2c cause hereditary hypophosphatemic rickets with hypercalciuria
《Genes & Diseases》2025年第2期68-71,共4页Yujing Sun Yuan Liu Xiaoli Zhang Ling Jiang 
funded by the National Natural Science Foundation of China Youth Fund (No.82200918);the Natural Science Foundation of Shandong Province Youth Fund (China) (No.ZR2021QC111).
Hereditary hypophosphatemic rickets with hypercalciuria(HHRH)is a rare autosomal recessive disorder characterized by hypophosphatemia,hypercalciuria,and recurrent nephrolithiasis,often resulting in rickets and osteoma...
关键词：calci SLC HEREDITARY 
Tragedy and Modernity:Two Misconstrued Cause/Effect Relationships
《中国比较文学》2025年第1期93-104,共12页Ding Ersu 
“Tragedy”and“modernity”are normally viewed as two discrete concepts,one related to literature and the other to social theory,but they were coupled into two different cause/effect relationships in the early and mid...
关键词：tragic drama theory of tragedy modernity death of tragedy happy ending 
Mutations in GTPBP3 cause aberrant mitochondrial respiration associated with combined oxidative phosphorylation deficiency 23
《Genes & Diseases》2025年第1期76-79,共4页Qianqian Li Yang Yang Ranran Li Chenguang Yu Kaidi Ren Yin Feng Xing Chen Yi Luan Xiangdong Kong 
supported by the National Natural Science Foundation of China(No.82000321,31900502);Henan Educational Committee Program for Science and Technology Development of Universities(China)(No.22A310022,24A320017);Natural Science Foundation of Henan,China(No.212300410275);Henan Medical Science and Technology Joint Building Program(China)(No.LHGJ20190229,LHGJ20190236,and LHGJ20230283);the Medical Science and Technology Research Project of Henan Province(No.SBGJ202103079,SBGJ202302045).
Combined oxidative phosphorylation deficiency 23(COXPD23,MIM#616198)is a rare autosomal-recessive mitochondrial disorder with variable disease severity ranging from death in early infancy to survival into the second d...
关键词：OXIDATIVE clinical CARDIOMYOPATHY 
Analysis of Causes and Recommendations for Premature Bolting in Huarong Large Leaf Mustard
《Plant Diseases and Pests》2025年第1期34-37,共4页Shengquan SU Shaoxiang CHEN Yunhua YAN Xu LIU Anzhong LI Daoyun GONG 
Supported by Key R&D Projects of Hunan Provincial Department of Science and Technology"Study on Key Modern Processing Techniques and Product Development of Huarong Mustard"(2023NK2039).
A survey conducted on the premature bolting of Huarong large leaf mustard from 2018 to 2024 revealed that Huarong large leaf mustard sown in middle August was associated with a higher propensity for premature bolting....
关键词：Huarong large leaf mustard Premature bolting CAUSE RECOMMENDATION 
Drosophila models used to simulate human ATP1A1 gene mutations that cause Charcot-Marie-Tooth type 2 disease and refractory seizures
《Neural Regeneration Research》2025年第1期265-276,共12页Yao Yuan Lingqi Yu Xudong Zhuang Dongjing Wen Jin He Jingmei Hong Jiayu Xie Shengan Ling Xiaoyue Du Wenfeng Chen Xinrui Wang 
supported by the Natural Science Foundation of Fujian Province,No.2020J02027;the National Natural Science Foundation of China,No.31970461;the Foundation of NHC Key Laboratory of Technical Evaluation of Fertility Regulation for Non-human Primate,Fujian Maternity and Child Health Hospital,No.2022-NHP-05(all to WC).
Certain amino acids changes in the human Na^(+)/K^(+)-ATPase pump,ATPase Na^(+)/K^(+)transporting subunit alpha 1(ATP1A1),cause Charcot-Marie-Tooth disease type 2(CMT2)disease and refractory seizures.To develop in viv...
关键词：ATP1A1 Atpα bang-sensitive paralysis Charcot-Marie-Tooth disease type 2 CRISPR/Cas9 homology-directed repair Na^(+)/K^(+)-ATPase point mutation seizures sodium pump 
What Emerges from the Analysis of Maternal Deaths at the Gyneco-Obstetric and Paediatric Hospital in Yaoundé?
《Open Journal of Obstetrics and Gynecology》2025年第1期118-137,共20页Pascale Mpono Emenguele Nelssa Kuete Fouomekong Junie Annick Metogo Ntsama Vanina Ngono Akam Christiane Nsahlai Isidore Tompeen Serge Nyada Véronique Mboua Batoum Wilfried Loïc Tatsipie Xavier Junior Ayissi Ngono Esther Ngo Um Meka 
Background: Maternal mortality remains a major public health problem worldwide. Objectives: Our study aims to present the results of an analysis of reviews of maternal deaths at HGOPY. Methodology: This was a descript...
关键词：Maternal Mortality PROPORTION Review CAUSE ETIOLOGY 
Joint Feature Encoding and Task Alignment Mechanism for Emotion-Cause Pair Extraction
《Computers, Materials & Continua》2025年第1期1069-1086,共18页Shi Li Didi Sun 
With the rapid expansion of social media,analyzing emotions and their causes in texts has gained significant importance.Emotion-cause pair extraction enables the identification of causal relationships between emotions...
关键词：Emotion-cause pair extraction interactive information enhancement joint feature encoding label consistency task alignment mechanisms 
SLC2A1 variants cause late-onset epilepsy and the genetic-dependent stage feature
《Acta Epileptologica》2024年第4期318-326,共9页Dongming Zhang Jing Guo Zisheng Lin Hongjun Yan Kai Peng Linxia Fei Qiongxiang Zhai Dongfang Zou Jiayi Zhong Yan Ding Hong Ye Pengyu Wang Jie Wang Sheng Luo Bingmei Li Bin Li Weiping Liao 
supported by the National Natural Science Foundation of China(82271505 to W.L.);UCB Pharma Ltd.and the Joint Science Research Foundation of China Association Against Epilepsy(CU-2024-042 to B.L.).
Background The SLC2A1 gene plays a vital role in brain energy metabolism.SLC2A1 variants have been reported to be associated with early-onset refractory seizures.This study aims to explore the association between the ...
关键词：SLC2A1 gene Glucose transporter type 1 defciency syndrome Mild epilepsy Genetic dependent stage Seizure-onset age 
MDN1 variants cause susceptibility to epilepsy
《Acta Epileptologica》2024年第4期382-392,共11页Qianru Wen Dongming Zhang Yan Ding Sheng Luo Qiang Huang Junhui Zhu Yongxin Li Wenhui Liu Pengyu Wang Xian Li Zisheng Lin Yaying Wang Xiaoyu Liang Weiping Liao Jie Wang Heng Meng 
funded by Medical Joint Fund of Jinan University(No.YXJC2022010);Dongguan Science and Technology Bureau 2023(No.20231800905272);The City School(institute)Enterprise Joint Funding Project of Guangzhou Science and Technology Bureau(No.2025A03J4094);Guangdong Basic and Applied Basic Research Foundation(No.2023A1515010218);Science and Technology Projects in Guangzhou(No.2023A03J1026);Fundamental Research Funds for the Central Universities(No.21623405).
Background The Midasin AAA(ATPase associated with various activities)ATPase 1(MDN1)gene,a member of the AAA protein family,plays a crucial role in ribosome maturation.MDN1 is expressed in the human brain throughout li...
关键词：MDN1 variants EPILEPSY SUSCEPTIBILITY Molecular subregional implication Febrile seizures Brain damage 
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