检索结果 - Koini Lim
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Human Frame Shift Mutations Affecting the Carboxyl Terminus of Perilipin Increase Lipolysis by Failing to Sequester the Adipose Triglyceride Lipase (ATGL) Coactivator AB-hydrolase-... 由 Sheetal Gandotra, Koini Lim, Amandine Girousse, Vladimı́r Saudek, Stephen O’Rahilly, David B. Savage
出版 2011Artigo -
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PPARγΔ5, a Naturally Occurring Dominant-Negative Splice Isoform, Impairs PPARγ Function and Adipocyte Differentiation 由 Marianna Aprile, Simona Cataldi, Maria Rosaria Ambrosio, Vittoria D’Esposito, Koini Lim, Arne Dietrich, Matthias Blüher, David B. Savage, Pietro Formisano, Alfredo Ciccodicola, Valerio Costa
出版 2018Artigo -
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Expression, assembly and function of novel C‐terminal truncated variants of the mouse P2X7 receptor: re‐evaluation of P2X7 knockouts 由 Marianela Masin, Chris Young, Koini Lim, Sara J Barnes, Xing Jian Xu, Viola Marschall, Wojciech Brutkowski, Elizabeth R Mooney, Dariusz C. Górecki, Ruth D. Murrell‐Lagnado
出版 2011Artigo -
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Compartmentalized Synthesis of Triacylglycerol at the Inner Nuclear Membrane Regulates Nuclear Organization 由 António Daniel Barbosa, Koini Lim, Muriel Mari, James R. Edgar, Lihi Gal, Peter Sterk, Benjamin Jenkins, Albert Koulman, David B. Savage, Maya Schuldiner, Fulvio Reggiori, Philip A. Wigge, Symeon Siniossoglou
出版 2019Artigo -
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Clinical and Molecular Characterization of a Novel PLIN1 Frameshift Mutation Identified in Patients With Familial Partial Lipodystrophy 由 Kristina Kozusko, Venessa Tsang, William Bottomley, Yoon Hi Cho, Sheetal Gandotra, Michael L. Mimmack, Koini Lim, Iona Isaac, Satish Patel, Vladimı́r Saudek, Stephen O’Rahilly, Shubha Srinivasan, Jerry R. Greenfield, Inês Barroso, Lesley V. Campbell, David B. Savage
出版 2014Artigo -
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Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease 由 Felicity Payne, Koini Lim, Amandine Girousse, Rebecca J. Brown, Nora Kory, Ann L. Robbins, Yali Xue, Alison Sleigh, Elaine Cochran, Claire Adams, Arundhati Dev Borman, David L. Russel‐Jones, Phillip Görden, Robert K. Semple, Vladimı́r Saudek, Stephen O’Rahilly, Tobias C. Walther, Inês Barroso, David B. Savage
出版 2014Artigo -
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PCYT1A Regulates Phosphatidylcholine Homeostasis from the Inner Nuclear Membrane in Response to Membrane Stored Curvature Elastic Stress 由 Afreen Haider, Yu‐Chen Wei, Koini Lim, António Daniel Barbosa, Che Liu, Ursula Weber, Marek Mlodzik, Kadri Oras, Simon Collier, M. Mahmood Hussain, Dong Liang, Satish Patel, Anna Álvarez-Guaita, Vladimı́r Saudek, Benjamin Jenkins, Albert Koulman, Marcus K. Dymond, Roger Hardie, Symeon Siniossoglou, David B. Savage
出版 2018Artigo -
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Mechanistic basis for protection against fatty liver disease by CIDEB loss-of-function mutations 由 Qiyu Zeng, Satish Patel, Xun Wang, Meng-Hsiung Hsieh, Zhijie Li, Xuejun Ren, Jingjing Wang, Dohun Kim, Shili Li, Xinping Gu, Gaia Chiara Mannino, Giuseppe Maggiore, Xiangyi Fang, Lin Li, Min Zhu, Mengmeng Wang, Boyuan Li, Amaey Bellary, Koini Lim, Zhetuo Qi, Pushpa Pushpa, Mandour O Mandour, Vladimı́r Saudek, Tripti Sharma, Yu Zhang, Gerta Hoxhaj, Prashant Mishra, Purva Gopal, Peter Campbell, Matthew Hoare, David B. Savage, Hao Zhu
出版 2025Pré-impressão
相关主题
Biology
Gene
Cell biology
Internal medicine
Medicine
Genetics
Adipose tissue
Biochemistry
Endocrinology
Lipid droplet
Mutation
Alternative splicing
Antiretroviral therapy
Chemistry
Disease
Fatty liver
Inner membrane
Insulin
Insulin resistance
Lipodystrophy
Lipolysis
Loss function
Mutant
Nuclear membrane
Nucleus
Perilipin
Phenotype
Receptor
Transcription factor
Viral load