CILIOPATHY

作品数：18被引量：21H指数：3
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The Cause of Hirschsprung’s Disease in Bardet Biedl Syndrome in Children
《Surgical Science》2025年第1期15-25,共11页Naga Venkata Chakra Satyanarayana Amarthi Terry Oroszi 
Hirschsprung’s disease (HSCR) is a developmental disorder characterized by the absence of ganglion cells in the distal colon, leading to functional obstruction. Bardet-Biedl syndrome (BBS) is a rare ciliopathy associ...
关键词：Hirschsprung’s Disease Bardet-Biedl Syndrome CILIOPATHY GENETICS Developmental Disorder 
Exome sequencing identifies a likely causative variant in 53%of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions
《Genes & Diseases》2024年第5期40-43,共4页Konstantin Deutsch Verena Klambt Thomas M.Kitzler Tilman Jobst-Schwan Ronen Schneider Florian Buerger Steve Seltzsam Sherif El Desoky Jameela A.Kari Farkhanda Hafeez Maria Szczepanska Loai A.Eid Hazem S.Awad Muna Al-Saffar Neveen A.Soliman Velibor Tasic Camille Nicolas-Frank Kirollos Yousef Luca M.Schierbaum Sophia Schneider Abdul Halawi Izzeldin Elmubarak Katharina Lemberg Shirlee Shril Shrikant M.Mane Nancy Rodig Friedhelm Hildebrandt 
The Deutsche Forschungsgemeinschaft funded V.K.(No.403877094);S.Se(No.442070894)and T.J.S.(No.281319475);V.K.was also funded by the Else-Kroner Fresenius Stiftung(Memorial Grant);the BIH ChariteClinician Scientist Program by the Charite´e Universitatsmedizin Berlin,and the Berlin Institute of Health at Charite.S.Se.was supported by the Deutsche Forschungsgemeinschaft(German Research Foundation)lT.M.K.was also 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.T.J.-S.received funding from the IZKF Erlangen(J70)and the Eva Luise und Horst Kohler Stiftung/Else Kroer-Fresenius Stiftung(RECORD program).
Nephronophthisis-related ciliopathies(NPHP-RC)represent one of the most common causes of chronic kidney disease in the first three decades of life and are characterized by a broad genetic and clinical heterogeneity.1 ...
关键词：DEGENERATION URINARY LIKELY 
Phenotypical Aspects of a Familial Syndromic Retinitis Pigmentosa
《Open Journal of Ophthalmology》2024年第2期168-173,共6页Irma Eneida Dos Santos Joseph Matar Mass Ndiaye Mariama Diambone Badji Alioune Abdoulaye Ndongo Gerauld Akpo Jean Pierre Diagne Gabriel Karold Mendy Mouhamed Attye Aboubacry Sadikh Sow Elhadji Amadou Ba Paule Aida Ndoye Roth 
Aim: To report a familial case of syndromic retinitis pigmentosa identified at Aristide Le Dantec Hospital in Dakar and to describe their clinical characteristics ophthalmic. Observation: We report a sibling group of ...
关键词：Retinitis Pigmentosa SYNDROMIC HEREDITY CILIOPATHY 
Super-Resolution Fluorescence Microscopy for Cilia Investigation and Ciliopathy Diagnosis(Invited)
《激光与光电子学进展》2024年第6期260-271,共12页Liu Zhen Wu Yang 
supported by the General Research Fund(GRF)from the Research Grants Council of Hong Kong(16100823,26101022)to Z.L.
The last two decades have witnessed the invention and development of super-resolution microscopy(SRM)that breaks the diffraction limit of light and pushes the fluorescence microscopy resolution to several nanometers.W...
关键词：DIAGNOSIS LIMIT SPITE 
Peripheral and central control of obesity by primary cilia被引量：1
《Journal of Genetics and Genomics》2023年第5期295-304,共10页Yue Wu Jun Zhou Yunfan Yang 
supported by the National Natural Science Foundation of China(32100948,32100614,31991193);Natural Science Foundation of Shandong Province(ZR2021QC069).
Primary cilia are hair-like structures that protrude from the cell surface.They are capable of sensing external cues and conveying a vast array of signals into cells to regulate a variety of physiological activities.M...
关键词：CILIOPATHY METABOLISM Adipose tissue ADIPOGENESIS HYPOTHALAMUS 
The actin-bundling protein Fascin-1 modulates ciliary signalling
《Journal of Molecular Cell Biology》2023年第4期1-16,共16页Lena Brücker Stefanie Kornelia Becker Vanessa Maissl Gregory Harms Maddy Parsons Helen Louise May-Simera 
supported by grants from Johannes Gutenberg University Mainz,Alexander von Humboldt Foundation(Sofja Kovalevskaja Award),Hanns Seidel Foundation,and Sibylle Kalkhof-Rose Foundation.This project was further funded by Deutsche Forschungsgemeinschaft(DFG,German Research Foundation,GRK2526/1-Projectnr.407023052).
Primary cilia are microtubule-based cell organelles important for cellular communication. Since they are involved in the regulation of numerous signalling pathways, defects in cilia development or function are associa...
关键词：CILIA actin Wnt SIGNALLING CILIOPATHY Bardet–Biedl syndrome FILOPODIA 
Characterization of two novel knock-in mouse models of syndromic retinal ciliopathy carrying hypomorphic Sdccag8 mutations
《Zoological Research》2022年第3期442-456,共15页Zhi-Lin Ren Hou-Bin Zhang Lin Li Zheng-Lin Yang Li Jiang 
supported by the Natural Science Foundation of China(81670893,82121003);Science and Technology Department of Sichuan Province(2021JDZH0031);Chinese Academy of Medical Sciences(2019-I2M-5-032)。
Mutations in serologically defined colon cancer autoantigen protein 8(SDCCAG8)were first identified in retinal ciliopathy families a decade ago with unknown function.To investigate the pathogenesis of SDCCAG8-associat...
关键词：SDCCAG8 Primary cilia Retinal ciliopathy Bardet-Biedl syndrome(BBS) Senior-L?ken syndrome(SLS) Nephronophthisis(NPHP) POLYDACTYLY 
Multifaceted roles of centrosomes in development,health,and disease被引量：2
《Journal of Molecular Cell Biology》2021年第9期611-621,共11页Feifei Qi Jun Zhou 
supported by the National Natural Science Foundation of China(31730050 and 32000481).
The centrosome is a membrane-less organelle consisting of a pair of barrel-shaped centrioles and pericentriolar material and functions as the major microtubule-organizing center and signaling hub in animal cells.The p...
关键词：CENTROSOME germ cell stem cell IMMUNITY ciliopathy Introduction 
Hepatic, pancreatic and renal manifestations of a ciliopathy
《Hepatobiliary & Pancreatic Diseases International》2021年第4期394-395,共2页Sreelakshmi Kotha Philip Berry 
Hepatorenal fibrocystic diseases are inherited disorders,characterized by developmental abnormalities and fibrocystic degeneration of the portobiliary system and kidneys^([1]).They are part of a larger group of disord...
关键词：HEPATIC kidney DEGENERATION 
Cell cycle regulation through primary cilium:A long-forgotten story
《BIOCELL》2021年第4期823-833,共11页LIN LIU ZHOUWEN XU YUYAN JIANG MD REZAUL KARIM XIAO HUANG 
supported by Zhejiang Provincial Natural Science Foundation of China No.LY20C120003.
Protruded from cytomembrane,primary cilium is a widespread cell organelle that can be found in almost all cell types in Mammalia.Because of its comprehensive requirement in various cellular activities and various func...
关键词：Signaling pathway Cell cycle checkpoint CILIOPATHY CANCER 
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