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Results for
""Gain of Function Mutation""[mesh_terms]

50 Results

Searching titles within these results

Gain-of-function experiments with bacteriophage lambda uncover residues under diversifying selection in nature.

Rohan Maddamsetti, Daniel T Johnson, Stephanie J Spielman, Katherine L Petrie, Debora S Marks, Justin R Meyer

Evolution; international journal of organic evolution 2019;72(10):2234-2243

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Pro-arrhythmic effects of gain-of-function potassium channel mutations in the short QT syndrome.

J C Hancox, C Y Du, A Butler, Y Zhang, C E Dempsey, S C Harmer, H Zhang

Philosophical transactions of the Royal Society of London. Series B, Biological sciences 2023;378(1879):20220165

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Abstract

ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function.

Desiree M Baron, Adam R Fenton, Sara Saez-Atienzar, Anthony Giampetruzzi, Aparna Sreeram, Pamela J Keagle, Victoria R Doocy, Nathan J Smith, Eric W Danielson, Megan Andresano, Mary C McCormack, Jaqueline Garcia, Valérie Bercier, Ludo Van Den Bosch, Jonathan R Brent, Claudia Fallini, Bryan J Traynor, Erika L F Holzbaur, John E Landers

Cell reports 2022;39(1):110598

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Case Report: Calcium sensing receptor gene gain of function mutations: a case series and report of 2 novel mutations.

Aliya A Khan, Dalal S Ali, Francesca Marini, Farah Alsarraf, Hatim Alalwani, Abdulrahman Alamri, Maria Luisa Brandi

Frontiers in endocrinology 2023;14():1215036

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Intercellular Sodium Regulates Repolarization in Cardiac Tissue with Sodium Channel Gain of Function.

Madison B Nowak, Amara Greer-Short, Xiaoping Wan, Xiaobo Wu, Isabelle Deschênes, Seth H Weinberg, Steven Poelzing

Biophysical journal 2021;118(11):2829-2843

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4-Aminopyridine is a promising treatment option for patients with gain-of-function -encephalopathy.

Ulrike B S Hedrich, Stephan Lauxmann, Markus Wolff, Matthis Synofzik, Thomas Bast, Adrian Binelli, José M Serratosa, Pedro Martínez-Ulloa, Nicholas M Allen, Mary D King, Kathleen M Gorman, Bruria Ben Zeev, Michal Tzadok, Lily Wong-Kisiel, Dragan Marjanovic, Guido Rubboli, Sanjay M Sisodiya, Florian Lutz, Harshad Pannikkaveettil Ashraf, Kirsten Torge, Pu Yan, Christian Bosselmann, Niklas Schwarz, Monika Fudali, Holger Lerche

Science translational medicine 2021;13(609):eaaz4957

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Acacetin, a Potent Transient Outward Current Blocker, May Be a Novel Therapeutic for -Encoded Kv4.3 Gain-of-Function-Associated J-Wave Syndromes.

Dan Ye, Wei Zhou, Samantha K Hamrick, David J Tester, C S John Kim, Hector Barajas-Martinez, Dan Hu, John R Giudicessi, Charles Antzelevitch, Michael J Ackerman

Circulation. Genomic and precision medicine 2022;15(5):e003238

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Tumor suppressor p53 and metabolism.

Juan Liu, Cen Zhang, Wenwei Hu, Zhaohui Feng

Journal of molecular cell biology 2020;11(4):284-292

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Chinese Pedigree of Chronic Mucocutaneous Candidiasis Due to STAT1 Gain-of-Function Mutation: A Case Study and Literature Review.

Xu Wang, Weiwei Zhao, Feng Chen, Peiru Zhou, Zhimin Yan

Mycopathologia 2023;188(1-2):87-97

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Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism.

Simran Samra, Mehul Sharma, Maryam Vaseghi-Shanjani, Kate L Del Bel, Loryn Byres, Susan Lin, Joshua Dalmann, Areesha Salman, Jill Mwenifumbo, Bhavi P Modi, Catherine M Biggs, Cyrus Boelman, Lorne A Clarke, Anna Lehman, Stuart E Turvey

HGG advances 2024;5(1):100259

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Dual Ca-dependent gates in human Bestrophin1 underlie disease-causing mechanisms of gain-of-function mutations.

Changyi Ji, Alec Kittredge, Austin Hopiavuori, Nancy Ward, Shoudeng Chen, Yohta Fukuda, Yu Zhang, Tingting Yang

Communications biology 2020;2():240

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Gain of function SCN1A disease-causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication.

Sara Matricardi, Sandrine Cestèle, Marina Trivisano, Benedetta Kassabian, Nathalie Leroudier, Roberta Vittorini, Margherita Nosadini, Elisabetta Cesaroni, Sabrina Siliquini, Cristina Marinaccio, Francesca Longaretti, Barbara Podestà, Francesca Felicia Operto, Concetta Luisi, Stefano Sartori, Clementina Boniver, Nicola Specchio, Federico Vigevano, Carla Marini, Massimo Mantegazza

Epilepsia 2023;64(5):1331-1347

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Bone Matrix Mineralization in Patients With Gain-of-Function Calcium-Sensing Receptor Mutations Is Distinctly Different From that in Postsurgical Hypoparathyroidism.

Diana Ovejero, Barbara M Misof, Rachel I Gafni, David Dempster, Hua Zhou, Klaus Klaushofer, Michael T Collins, Paul Roschger

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2020;34(4):661-668

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A gain-of-function mutation in ATP6V0A4 drives primary distal renal tubular alkalosis with enhanced V-ATPase activity.

Wen Shi, Bi-Cheng Liu, Qian-Qian Wu, Lu Huang, Jun Liao, Bin Wang, Hui Cai, Xin-Hua Li, Yan Yang, Hong Fan, Yi-Lin Zhang, Si-Qi Peng, Wan-Yi Wang, Rui-Ning Zhou, Jin-Xuan Wei, Jun-Lan Yang, Xiao-Xu Wang, Zhi-Yuan Wei, Jia-Xuan Sun, Cheng-Kun Wang, Ting-Song Li, Xiao-Liang Zhang

The Journal of clinical investigation 2025;135(13):

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Pharmacokinetic and pharmacodynamic assessment of alirocumab in patients with familial hypercholesterolemia associated with proprotein convertase subtilisin/kexin type 9 gain-of-function or apolipoprotein B loss-of-function mutations.

Paul N Hopkins, Michel Krempf, Eric Bruckert, Stephen Donahue, Feng Yang, Yi Zhang, A Thomas DiCioccio

Journal of clinical lipidology 2020;13(6):970-978

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Results: 1 – 15 / 50

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Results for ""Gain of Function Mutation""[mesh_terms]

Gain-of-function experiments with bacteriophage lambda uncover residues under diversifying selection in nature.

Pro-arrhythmic effects of gain-of-function potassium channel mutations in the short QT syndrome.

ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function.

Case Report: Calcium sensing receptor gene gain of function mutations: a case series and report of 2 novel mutations.

Intercellular Sodium Regulates Repolarization in Cardiac Tissue with Sodium Channel Gain of Function.

4-Aminopyridine is a promising treatment option for patients with gain-of-function -encephalopathy.

Acacetin, a Potent Transient Outward Current Blocker, May Be a Novel Therapeutic for -Encoded Kv4.3 Gain-of-Function-Associated J-Wave Syndromes.

Tumor suppressor p53 and metabolism.

Chinese Pedigree of Chronic Mucocutaneous Candidiasis Due to STAT1 Gain-of-Function Mutation: A Case Study and Literature Review.

Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism.

Dual Ca-dependent gates in human Bestrophin1 underlie disease-causing mechanisms of gain-of-function mutations.

Gain of function SCN1A disease-causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication.

Bone Matrix Mineralization in Patients With Gain-of-Function Calcium-Sensing Receptor Mutations Is Distinctly Different From that in Postsurgical Hypoparathyroidism.

A gain-of-function mutation in ATP6V0A4 drives primary distal renal tubular alkalosis with enhanced V-ATPase activity.

Pharmacokinetic and pharmacodynamic assessment of alirocumab in patients with familial hypercholesterolemia associated with proprotein convertase subtilisin/kexin type 9 gain-of-function or apolipoprotein B loss-of-function mutations.

Results for
""Gain of Function Mutation""[mesh_terms]