Results for &quot;&quot;Loss of Function Mutation&quot;&quot;[mesh_terms]

Long QT Syndrome Type 2: Emerging Strategies for Correcting Class 2 () Mutations and Identifying New Patients.

Makoto Ono, Don E Burgess, Elizabeth A Schroder, Claude S Elayi, Corey L Anderson, Craig T January, Bin Sun, Kalyan Immadisetty, Peter M Kekenes-Huskey, Brian P Delisle

Biomolecules 2021;10(8):1144

An inactivating human TRPC6 channel mutation without focal segmental glomerulosclerosis.

Lilas Batool, Krithika Hariharan, Yao Xu, Mario Kaßmann, Dmitry Tsvetkov, Björn-Oliver Gohlke, Sylvia Kaden, Manfred Gossen, Bernd Nürnberg, Andreas Kurtz, Maik Gollasch

Cellular and molecular life sciences : CMLS 2023;80(9):265

Case report: A Newly Identified G-protein Subunit α-11 Loss-of-Function Variant Causing Familial Hypocalciuric Hypercalcemia Type 2 in an Italian Kindred.

Filomena Cetani, Fabrizia Citro, Simona Borsari, Laura Pierotti, Simone Della Valentina, Chiara Sardella, Anna Dal Lago, Angela Michelucci, Maria Adelaide Caligo, Elena Pardi

Frontiers in endocrinology 2026;17():1876004

Modulation of Ion Transport to Restore Airway Hydration in Cystic Fibrosis.

James A Reihill, Lisa E J Douglas, S Lorraine Martin

Genes 2021;12(3):453

When "loss-of-function" means proteostasis burden: Thinking again about coding DNA variants.

Micheala A Aldred, Claire L Shovlin

American journal of human genetics 2025;112(1):3-10

The P429L loss of function mutation of the human glycine transporter 2 associated with hyperekplexia.

Alexandra Kitzenmaier, Natascha Schaefer, Vikram Babu Kasaragod, Tilman Polster, Ralph Hantschmann, Hermann Schindelin, Carmen Villmann

The European journal of neuroscience 2020;50(12):3906-3920

Idiopathic infantile hypercalcaemia (IIH) resulting from a loss-of-function mutation in the CYP24A1 gene in a young high-performance athlete: A case report with a literature review of adult presentations.

Alexander J Rodríguez, David J Roberts

Clinical endocrinology 2023;99(4):355-360

Comparison between clopidogrel and ticagrelor in CYP2C19 loss-of-function alleles coronary artery disease and stroke patients: a meta-analysis.

Mohamed Abouzid, Ibraheem M Alkhawaldeh, Mostafa Hossam El Din Moawad, Mahmoud Elsayed, Mohammed Elkholy, Yousr Ahmed, Younes Nabgouri, Gulnaz Bahtiyarova, Reham M Wagih

European journal of clinical pharmacology 2025;81(9):1241-1256

New Cav1.2 Channelopathy with High-Functioning Autism, Affective Disorder, Severe Dental Enamel Defects, a Short QT Interval, and a Novel Loss-Of-Function Mutation.

Dominique Endres, Niels Decher, Isabell Röhr, Kirsty Vowinkel, Katharina Domschke, Katalin Komlosi, Andreas Tzschach, Birgitta Gläser, Miriam A Schiele, Kimon Runge, Patrick Süß, Florian Schuchardt, Kathrin Nickel, Birgit Stallmeyer, Susanne Rinné, Eric Schulze-Bahr, Ludger Tebartz van Elst

International journal of molecular sciences 2021;21(22):8611

IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease.

Mara Cananzi, Elizabeth Wohler, Antonio Marzollo, Davide Colavito, Jing You, Huie Jing, Silvia Bresolin, Paola Gaio, Renan Martin, Claudia Mescoli, Sangeeta Bade, Jennifer E Posey, Maurizio Dalle Carbonare, Wesley Tung, Shalini N Jhangiani, Luca Bosa, Yu Zhang, Joselito Sobreira Filho, Maria Gabelli, Richard Kellermayer, Howard A Kader, Maria Oliva-Hemker, Giorgio Perilongo, James R Lupski, Alessandra Biffi, David Valle, Alberta Leon, Nara Lygia de Macena Sobreira, Helen C Su, Anthony L Guerrerio

Human genetics 2021;140(9):1299-1312

Challenges in familial chylomicronemia syndrome diagnosis and management across Latin American countries: An expert panel discussion.

Raul D Santos, Alberto Lorenzatti, Pablo Corral, Juan Patricio Nogueira, Alberto M Cafferata, Daniel Aimone, Charles M Lourenço, Maria Cristina Izar, Josivan G Lima, Ana Maria Lottenberg, Rodrigo Alonso, Karla Garay, Alvaro Ruiz Morales, Hernando Vargas-Uricoechea, Christian A Colón Peña, Alejandro Roman-González

Journal of clinical lipidology 2022;15(5):620-624

The Effect of CYP2C19 and Nongenetic Factors on Clopidogrel Responsiveness in the MENA Region: A Systematic Review.

Hazem Elewa, Zainab Ali

Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis 2020;25():1076029619875520

Novel Loss-of-function Variants of ZP3 Associated with Premature Ovarian Insufficiency.

Yanhua Wu, Feng Zhang, Xi Yang, Yiqing Liu, Lang Zhou, Shuting Ren, Yuncheng Pan, Zixue Zhou, Jitong Mo, Xiaojin Zhang

Reproductive sciences (Thousand Oaks, Calif.) 2024;31(12):3919-3928

Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.

Gudjon R Oskarsson, Asmundur Oddsson, Magnus K Magnusson, Ragnar P Kristjansson, Gisli H Halldorsson, Egil Ferkingstad, Florian Zink, Anna Helgadottir, Erna V Ivarsdottir, Gudny A Arnadottir, Brynjar O Jensson, Hildigunnur Katrinardottir, Gardar Sveinbjornsson, Anna M Kristinsdottir, Amy L Lee, Jona Saemundsdottir, Lilja Stefansdottir, Jon K Sigurdsson, Olafur B Davidsson, Stefania Benonisdottir, Aslaug Jonasdottir, Adalbjorg Jonasdottir, Stefan Jonsson, Reynir L Gudmundsson, Folkert W Asselbergs, Vinicius Tragante, Bjarni Gunnarsson, Gisli Masson, Gudmar Thorleifsson, Thorunn Rafnar, Hilma Holm, Isleifur Olafsson, Pall T Onundarson, Daniel F Gudbjartsson, Gudmundur L Norddahl, Unnur Thorsteinsdottir, Patrick Sulem, Kari Stefansson

Communications biology 2021;3(1):189