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Patrick F. Chinnery

university of cambridge

128H指数
937论文数
6.3W被引数
收录论文 465
发表时间
Mitochondrial DNA heteroplasmy drives cortical neuronal disturbances in human organoids harbouring the common m.3243A>G mutation线粒体DNA异质性驱动携带常见m.3243A>G突变的人类类器官中皮层神经元的紊乱
err2026-06-21
err0
errOAAI
errDenisa Hathazi; Camilla Lyons; Daniel Lagos; Oliver Podmanicky; Mariana Zarate-Mendez; Yu Nie; Juliane S. Müller; Kieren S. J. Allinson; Huw Naylor; Majlinda Lako; Ibrahim Elsharkawi; Irena Muffels; Eva Morava; Tamas Kozicz; Patrick Chinnery; András Lakatos; Rita Horvath
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Single-molecule mitochondrial DNA imaging reveals heteroplasmy dynamics shaped by developmental bottlenecks and selection in vivo单分子线粒体DNA成像揭示发育瓶颈和选择塑造的在体异质性动态
err2026-05-13
err0
errOAAI
errRajini Chandrasegaram; Sara Gottardo; Abhilesh Dhawanjewar; Antony M. Hynes-Allen; Beitong Gao; Suvagata Roy Chowdhury; Luis-Carlos Tábara; Michele Frison; Stavroula Petridi; Patrick F. Chinnery; Julien Prudent; Hansong Ma; Jelle van den Ameele
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Genetic landscape of adult executive function reveals a cell-type-specific developmental origin成人执行功能遗传景观揭示了一种细胞类型特异性的发育起源
err2026-05-02
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errOAAI
errMd Shafiqur Rahman; Azra Frkatović-Hodžić; Jelle van den Ameele; Steven M. Hill; Nathalie Kingston; John R. Bradley; Brian D. M. Tom; Patrick F. Chinnery
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MitoPerturb-Seq identifies gene-specific single-cell responses to mitochondrial DNA depletion and heteroplasmyMitoPerturb-Seq识别线粒体DNA耗竭和异质性对基因特异性单细胞反应的影响
err2026-04-01
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errOAAI
errStephen P. Burr; Kathryn Auckland; Angelos Glynos; Abhilesh Dhawanjewar; Cameron Ryall; Wei Wei; Antony Hynes-Allen; Malwina Prater; Matylda Sczaniecka-Clift; Julien Prudent; Patrick F. Chinnery; Jelle van den Ameele
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An inherited mitochondrial DNA mutation remodels inflammatory cytokine responses in macrophages and in vivo in mice一种遗传性线粒体DNA突变重塑了巨噬细胞和小鼠体内的促炎细胞因子反应。
err2025-11-20
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errOAAI
errEloïse Marques; Stephen P. Burr; Alva M. Casey; Richard J. Stopforth; Chak Shun Yu; Keira Turner; Dane M. Wolf; Marisa Dilucca; Vincent Paupe; Suvagata Roy Chowdhury; Victoria J. Tyrrell; Robbin Kramer; Yamini M. Kanse; Chinmayi Pednekar; Chris A. Powell; James B. Stewart; Julien Prudent; Michael P. Murphy; Michal Minczuk; Valerie B. O’Donnell; Clare E. Bryant; Patrick F. Chinnery; Arthur Kaser; Alexander von Kriegsheim; Dylan G. Ryan
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The bottleneck for maternal transmission of mtDNA is linked to purifying selection by autophagy线粒体DNA(mtDNA)的母系传递瓶颈与自噬的净化选择相关联。
err2025-11-12
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PREAI
errLaura S. Kremer; Zoe Golder; Tom Barton-Owen; Polyxeni Papadea; Camilla Koolmeister; Patrick F. Chinnery; Nils-Göran Larsson
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Functionally dominant hotspot mutations of mitochondrial ribosomal RNA genes in cancer线粒体核糖体RNA基因在癌症中的功能显性热点突变
err2025-11-03
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errOAAI
errSonia Boscenco; Jacqueline Tait-Mulder; Minsoo Kim; Cerise Tang; Tricia Park; Flora McNulty; Sergio Lilla; Sara Zanivan; Alejandro Huerta-Uribe; Benan Nalbant; Mark Zucker; David Sumpton; Geoffray Monteuuis; Christopher B. Jackson; Wei Wei; Patrick F. Chinnery; Ronan Chaligne; Caleb A. Lareau; Ed Reznik; Payam A. Gammage
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Charting the Phenotypic Landscape of Mitochondrial Diseases through a Systematic Evaluation of Pathogenic Mitochondrial DNA and Nuclear Gene Variants通过系统评估致病线粒体DNA和核基因变异来绘制线粒体疾病的表型景观
err2025-10-24
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errOAAI
errThiloka Ratnaike; Siddharth Ramanan; Nour Elkhateeb; Ramya Narayanan; Jenny Yang; Eszter Sara Arany; Manya Mirchandani; Rachael Piper; Katherine Schon; M.Eren Kule; Christopher Gilmartin; Angela Lochmüller; Emogene Shaw; Rita Horváth; Patrick F. Chinnery
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Ubiquitin-mediated mitophagy regulates the inheritance of mitochondrial DNA mutations泛素介导的线粒体自噬调控线粒体DNA突变的遗传
errScience
IF45.8
err2025-10-09
err0
PREAI
errMichele Frison; Brandon S. Lockey; Yu Nie; Zoe Golder; Eleni Theiaspra; Cameron D. Ryall; Camilla Lyons; Stephen P. Burr; Malwina Prater; Lyuba V. Bozhilova; Angelos Glynos; James B. Stewart; Nick S. Jones; Marcos R. Chiaratti; Patrick F. Chinnery
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Successful AAV8 gene therapy on hepatic ex situ machine perfusion for mitochondrial neurogastrointestinal encephalomyopathy成功的AAV8基因治疗肝异位机器灌注治疗线粒体神经胃肠脑肌病
err2025-08-06
err0
PREAI
errTeresa Brevini; Lisa Swift; Helen Reynolds; John Ong; Richard J. Stopforth; Yogeshkumar Malam; Harry V.M. Spiers; Emilija Jovanovic; Miki Scaravaglio; Vitushan Vakeeswarasarma; James Heslop; Erin Emmett; Brock Andreatta; Emmanouil Athanasiadis; Tessa M. Cacciottolo; Claudia D. Fuchs; Michael Trauner; Sarah A. Hosgood; Teik Choon See; Pavlos Pantelis; Dora Foukaneli; William T.H. Gelson; Paul Gibbs; Kieren Allinson; Gavin J. Pettigrew; Adam Duckworth; Anna L. Paterson; Vassilis G. Gorgoulis; Richard J. Thompson; Arthur Kaser; Vasilis Kosmoliaptsis; Patrick F. Chinnery; Ramon Marti; Jelle van den Ameele; Gwilym J. Webb; Christopher J.E. Watson; Andrew J. Butler; Fotios Sampaziotis
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Pro-inflammatory macrophages produce mitochondria-derived superoxide by reverse electron transport at complex I that regulates IL-1β release during NLRP3 inflammasome activation促炎巨噬细胞通过复合物I处的反向电子传递产生线粒体来源的超氧化物,该超氧化物在NLRP3炎性小体激活期间调控IL-1β的释放。
err2025-02-19
err1
errOAAI
errCasey, Alva M.; Ryan, Dylan G.; Prag, Hiran A.; Chowdhury, Suvagata Roy; Marques, Eloise; Turner, Keira; Gruszczyk, Anja V.; Yang, Ming; Wolf, Dane M.; Miljkovic, Jan Lj; Valadares, Joyce; Chinnery, Patrick F.; Hartley, Richard C.; Frezza, Christian; Prudent, Julien; Murphy, Michael P.
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An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants一种少突胶质细胞沉默子元件构成了层粘连蛋白B1结构变异的致病性影响
err2025-02-05
err1
errOAAI
errNmezi, Bruce; Bey, Guillermo Rodriguez; Oranburg, Talia DeFrancesco; Dudnyk, Kseniia; Lardo, Santana M.; Herdman, Nathan; Jacko, Anastasia; Rubio, Sandy; Loeza-Alcocer, Emanuel; Kofler, Julia; Kim, Dongkyeong; Rankin, Julia; Kivuva, Emma; Gutowski, Nicholas; Schon, Katherine; van den Ameele, Jelle; Chinnery, Patrick F.; Sousa, Sergio B.; Palavra, Filipe; Toro, Camilo; Pinto e Vairo, Filippo; Saute, Jonas; Pan, Lisa; Alturkustani, Murad; Hammond, Robert; Gros-Louis, Francois; Gold, Michael S.; Bernard, Genevieve; Raininko, Raili; Zhou, Jian; Hainer, Sarah J.; Padiath, Quasar S.
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Patients with neurological or psychiatric complications of COVID-19 have worse long-term functional outcomes: COVID-CNS-A multicentre case-control study新型冠状病毒肺炎神经或精神并发症患者的长期功能预后较差: covid-cns-一项多中心病例对照研究
err2025-01-27
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errOAAI
errShil, Rajish S. K.; Seed, Adam; Franklyn, Nkongho Egbe; Sargent, Brendan F.; Wood, Greta K.; Huang, Yun; Dodd, Katherine C.; Lilleker, James B.; Pollak, Thomas A.; Defres, Sylviane; Jenkins, Thomas M.; Davies, Nicholas W. S.; Cousins, David A.; Zandi, Michael S.; Jackson, Thomas A.; Benjamin, Laura A.; Easton, Ava; Solomon, Tom; Bradley, John R.; Chinnery, Patrick F.; Smith, Craig J.; Nicholson, Timothy R.; Carson, Alan; Thomas, Rhys H.; Ellul, Mark Alexander; Wood, Nicholas W.; Breen, Gerome; Michael, Benedict Daniel; COVID-CNS Study Grp, John P.
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Mitochondrial DNA disorders in neuromuscular diseases in diverse populations
err2024-08-02
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errOAAI
errGao, Fei; Schon, Katherine R.; Vandrovcova, Jana; Wilson, Lindsay; Hanna, Michael G.; Cavdarli, Buesranur; Heckmann, Jeannine; Chinnery, Patrick F.; Horvath, Rita
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LRPPRC and SLIRP synergize to maintain sufficient and orderly mammalian mitochondrial translation
err2024-08-01
err1
errOAAI
errRubalcava-Gracia, Diana; Bubb, Kristina; Levander, Fredrik; Burr, Stephen P.; August, Amelie, V; Chinnery, Patrick F.; Koolmeister, Camilla; Larsson, Nils-Goran
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Nuclear genetic control of mtDNA copy number and heteroplasmy in humans (vol 620, pg 839, 2023)人类线粒体DNA拷贝数和异质性核遗传调控(vol 620, pg 839, 2023)
errNATURE
IF48.5
err2024-06-03
err0
errOAAI
errGupta, Rahul; Kanai, Masahiro; Durham, Timothy J.; Tsuo, Kristin; McCoy, Jason G.; Kotrys, Anna V.; Zhou, Wei; Chinnery, Patrick F.; Karczewski, Konrad J.; Calvo, Sarah E.; Neale, Benjamin M.; Mootha, Vamsi K.
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Dynamics of cognitive variability with age and its genetic underpinning in NIHR BioResource Genes and Cognition cohort participantsNIHR生物资源基因和认知队列参与者中认知变异性随年龄变化的动态及其遗传基础
err2024-05-14
err1
errOAAI
errRahman, Md Shafiqur; Harrison, Emma; Biggs, Heather; Seikus, Chloe; Elliott, Paul; Breen, Gerome; Kingston, Nathalie; Bradley, John R.; Hill, Steven M.; Tom, Brian D. M.; Chinnery, Patrick F.
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Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease
err2024-05-13
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errOAAI
errOlimpio, Catarina; Paramonov, Ida; Matalonga, Leslie; Laurie, Steven; Schon, Katherine; Polavarapu, Kiran; Kirschner, Janbernd; Schara-Schmidt, Ulrike; Lochmueller, Hanns; Chinnery, Patrick F.; Horvath, Rita
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Preserved striatal innervation maintains motor function despite severe loss of nigral dopaminergic neurons
errBRAIN
IF11.7
err2024-04-04
err1
errOAAI
errPass, Thomas; Ricke, Konrad M.; Hofmann, Pierre; Chowdhury, Roy S.; Nie, Yu; Chinnery, Patrick; Endepols, Heike; Neumaier, Bernd; Carvalho, Andre; Rigoux, Lionel; Steculorum, Sophie M.; Prudent, Julien; Riemer, Trine; Aswendt, Markus; Liss, Birgit; Brachvogel, Bent; Wiesner, Rudolf J.
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