MONOGENIC

作品数：36被引量：60H指数：4
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相关领域：医药卫生更多>>
相关作者：闫海停杨静刘林何汉明李进斌更多>>
相关机构：湖南大学云南农业大学云南省农业科学院中国科学技术大学更多>>
相关期刊：《World Journal of Dermatology》《Reproductive and Developmental Medicine》《World Journal of Gastroenterology》《Science China Mathematics》更多>>
相关基金：国家自然科学基金国家重点基础研究发展计划更多>>
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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 
Monogenic gene therapy for glaucoma and optic nerve injury
《Neural Regeneration Research》2025年第3期815-816,共2页Chikako Harada Xiaoli Guo Takayuki Harada 
supported by Japan Society for the Promotion of Science (JSPS) KAKENHI Grants-in-Aid for Scientific Research (JP22K09804 to CH;JP21K09688 to XG;JP19KK0229, JP21H04786, JP21H02819 and JP21K18279 to TH);the Shiseido Female Researcher Science Grant (to XG);Mitsubishi Foundation;Takeda Science Foundation (to TH)。
The prevalence of glaucoma, the second leading cause of global blindness, is increasing due to aging populations. In glaucoma, degeneration of the optic nerve and retinal ganglion cells(RGCs) causes visual field defec...
关键词：VISUAL GLAUCOMA DEGENERATION 
A model for early clinical detection of pediatric monogenic lupus: implications for the future of digital medicine
《World Journal of Pediatrics》2024年第11期1103-1104,共2页WanlingYang 
Systemic lupus erythematosus(SLE)is a prototype autoimmune disease,mainly affecting women of childbearing age.While most adult-onset lupus involves a complex interplay of genetic and environmental factors,approximatel...
关键词：LUPUS PEDIATRIC AUTOIMMUNE 
LASSO-derived nomogram for early identification of pediatric monogenic lupus被引量：2
《World Journal of Pediatrics》2024年第11期1155-1167,共13页Tian-Yu Zhang Wei Wang Si-Hao Gao Zhong-Xun Yu Wei Wang Yu Zhou Chang-Yan Wang Shan Jian Lin Wang Li-Juan Gou Ji Li Ming-Sheng Ma Hong-Mei Song 
supported by National Key R&D Program of China(2021YFC2702005);National High Level Hospital Clinical Research Funding(2022-PUMCH-B-079).
Background Monogenic lupus is defined as systemic lupus erythematosus(SLE)/SLE-like patients with either dominantly or recessively inherited pathogenic variants in a single gene with high penetrance.However,because th...
关键词：CHILDREN LUPUS Model MONOGENIC NOMOGRAM Prediction 
Monogenic features of urolithiasis: A comprehensive review
《Asian Journal of Urology》2024年第2期169-179,共11页Kyo Chul Koo Abdulghafour Halawani Victor K.F.Wong Dirk Lange Ben H.Chew 
Objective: Urolithiasis formation has been attributed to environmental and dietary factors. However, evidence is accumulating that genetic background can contribute to urolithiasis formation. Advancements in the ident...
关键词：Gene Genetic expression Inheritance pattern UROLITHIASIS 
On the Enhanced Power Graph of a Semigroup
《Algebra Colloquium》2024年第1期83-96,共14页Sandeep Dalal Jitender Kumart Siddharth Singh 
the support of MATRICS Grant(MTR/2018/000779)funded by SERB,India.
The enhanced power graph P_(E)(S)of a semigroup S is a simple graph whose vertex set is S and two vertices a,y∈S are adjacent if and only if c,y∈(z)for some z∈S,where(z)is the subsemigroup generated by z.In this pa...
关键词：monogenic semigroup completely regular semigroup planar graph enhanced powergraph 
Monogenic deficiency in murine intestinal Cdc42 leads to mucosal inflammation that induces crypt dysplasia被引量：2
《Genes & Diseases》2024年第1期413-429,共17页Dongsheng Zhang Wenjuan Tang Haitao Niu William Tse Hai-Bin Ruan Helmut Dolznig Thomas Knosel Friedrich Karl-Heinz Madeleine Themanns Jiang Wang Mingquan Song Lee Denson Lukas Kenner Richard Moriggl Yi Zheng Xiaonan Han 
supported by NIDDK RO1,USA(No.R01DK123299)(X.H.);MHMC/CWRU start-up(X.H.).R.M.was supported by a private cancer metabolism grant donation from Liechtenstein and the Austrian Science Fund(FWF)(No.SFB F4707 and SFB-F06105).
CDC42 controls intestinal epithelial(IEC)stem cell(IESC)division.How aberrant CDC42 initiates intestinal inflammation or neoplasia is unclear.We utilized models of inflam-matory bowel diseases(IBD),colorectal cancer,a...
关键词：Cell divisioncycle 42(CDC42) COLITIS Colorectal cancer(CRC) Inflammatory bowel diseases(IBD) Intestinal epithelial cell(IEC) Intestinal epithelial stem cell(IESC) Irradiation 
Gene therapy for monogenic disorders: challenges, strategies, and perspectives被引量：3
《Journal of Genetics and Genomics》2024年第2期133-143,共11页Yi Zhang Zhi-Ying Wu 
Monogenic disorders refer to a group of human diseases caused by mutations in single genes. While disease-modifying therapies have offered some relief from symptoms and delayed progression for some monogenic diseases,...
关键词：Gene therapy Monogenic diseases Geneediting Genedelivery CHALLENGES 
Management of monogenic diabetes in pregnancy:A narrative review
《World Journal of Diabetes》2024年第1期15-23,共9页Mohammad Sadiq Jeeyavudeen Sarah R Murray Mark W J Strachan 
Pregnancy in women with monogenic diabetes is potentially complex,with significant implications for both maternal and fetal health.Among these,maturity-onset diabetes of the young(MODY)stands out as a prevalent monoge...
关键词：Diabetes Pregnancy Maturity-onset diabetes of the young INSULIN SULPHONYLUREA GLUCOKINASE Hepatocyte nuclear factor 1-alpha hepatocyte nuclear factor 1-beta and hepatocyte nuclear factor 4-alpha 
Bochner-Martinelli Formula for Higher Spin Operators of Several R^(6) Variables
《Chinese Annals of Mathematics,Series B》2023年第4期489-500,共12页Guangzhen REN Qianqian KANG 
supported by the National Nature Science Foundation of China(Nos.12101564,11801508,11801523);the Nature Science Foundation of Zhejiang Province(No.LY22A010013)。
The higher spin operator of several R^(6)variables is an analogue of the■-operator in theory of several complex variables.The higher spin representation of so6(C)is⊙^(k)C_(4)and the higher spin operator D_(k) acts o...
关键词：Higher spin operator k-Monogenic Bochner-Martinelli formula Pen-rose integral formula 
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