CAUSE

作品数：617被引量：1163H指数：15
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相关作者：周领顺程铖王海华王同顺王义梅更多>>
相关机构：华中科技大学华中师范大学上海交通大学华东师范大学更多>>
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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 
Nonlinear association between serum albumin levels and allcause mortality in elderly patients with chronic aortic regurgitation
《Journal of Geriatric Cardiology》2025年第4期423-432,共10页Ming-Hui LI Qing-Rong LIU Zhen-Yan ZHAO Hai-Yan XU Yong-Jian WU the CHINA-VHD Collaborators 
supported by the Chinese Academy of Medical Sciences Innovation Fund for Medical Sciences(2017-12M-3-002);the Central High Level Hospital Clinical Research Operating Expenses,China(Zero Balance 2022-GSP-GG-15);the Natural Science Foundation Project of the Inner Mongolia Autonomous Region of China(2022LHQN08003).
BACKGROUND Low serum albumin levels are established predictors of adverse outcomes in various cardiovascular conditions.However,the role of serum albumin in mortality among elderly patients with chronic aortic regurgi...
关键词：risk factor chronic aortic regurgitation ar elderly patients low serum albumin chronic aortic regurgitation all cause mortality serum albumin nonlinear association 
The relationship between geriatric nutritional risk index and cardiovascular disease and all-cause mortality in patients with osteoporosis and osteopenia
《Journal of Geriatric Cardiology》2025年第4期443-454,共12页Sheng-Han WANG Hang YIN Shan-Shan ZHOU 
BACKGROUND The correlation between geriatric nutritional risk index(GNRI)and the prognosis of patients with osteoporosis or osteopenia has not been studied.This study aims to explore the relationship between GNRI and ...
关键词：OSTEOPOROSIS All Cause Mortality multivariable cox re cardiovascular disease cvd OSTEOPENIA geriatric nutritional risk index gnri Geriatric Nutritional Risk Index Cardiovascular Disease 
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 
The phytoplasma(Candidatus Phytoplasma arecae)is the crucial pathogen to cause areca palm yellow leaf disease
《Science Bulletin》2025年第6期847-851,共5页Shuangwei Song Qian Wang Liangxiao Huo Liqiang Xie Jiaqi Chen Hongguang Cui Zhaoji Dai Jinrui Kang Yi Li Wei Guo Jinfeng Chen Le Kang Xiaoming Zhang 
The raw sequences of AYLP(short reads S1:SRR19151409,short reads S2:SRR29507615,long reads S1:SRR29507613,long reads S2:SRR29507612)have been deposited into NCBI Sequence Read Archive under the BioProject PRJNA835721;The draft genome sequence has been deposited into the NCBI genome database(CP169277).
The areca palm(Areca catechu L.)is a vital tropical forest species widely utilized for vegetation restoration,landscaping,and greening purposes.Its nuts hold significant importance in traditional medicine,serving as r...
关键词：Areca palm yellow leaf disease Candidatus phytoplasma arecae traditional medicineserving PHYTOPLASMA areca palm areca palm areca parasitic infectionsdigestive disordersand Areca catechu 
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 
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