Out-of-frame Translation Rescues a Loss-of-function Variant in a Novel <i>TBCE</i> Phenotype
This study uncovers complex molecular mechanisms contributing to the milder phenotype in patients with the c.100 + 1G > A variant, providing insights into a new TBCE-related disorder.
Authors
- Anatoliy Tiulpakov
- Eugene Tatarskiy (ORCID: https://orcid.org/0000-0002-6962-903X)
- Maria Kareva (ORCID: https://orcid.org/0000-0003-1320-6561)
- S. A. Golyshev (ORCID: https://orcid.org/0000-0002-4877-1061)
- Anton V. Burakov (ORCID: https://orcid.org/0000-0002-8736-248X)
- Ekaterina Lozier (ORCID: https://orcid.org/0000-0003-2901-0539)
- V. Yu. Voinova (ORCID: https://orcid.org/0000-0001-8491-0228)
- Anna V. Tvorogova (ORCID: https://orcid.org/0000-0002-8205-1914)
- Peter Sparber (ORCID: https://orcid.org/0000-0002-9160-0794)
- Mikhail Skoblov (ORCID: https://orcid.org/0000-0002-7293-3438)
- Alexandra Filatova (ORCID: https://orcid.org/0000-0002-5979-0727)
- Natalia Kalinchenko (ORCID: https://orcid.org/0000-0002-2000-7694)
- Fedor A. Konovalov (ORCID: https://orcid.org/0000-0001-6414-436X)
- Elena Frolova
- Nina Makretskaya (ORCID: https://orcid.org/0000-0003-0412-7140)
- E. V. Nagaeva (ORCID: https://orcid.org/0000-0001-6429-7198)
- Evgeniia Ulas
- Grigory Perelman (ORCID: https://orcid.org/0000-0003-2512-247X)
- Vyacheslav Tabakov (ORCID: https://orcid.org/0000-0003-0291-153X)
Institutions
- Lomonosov Moscow State University (RU)
- Pirogov Russian National Research Medical University (RU)
- Endocrinology Research Center (RU)
- Institute of Experimental Cardiology (RU)
- Institute of Gene Biology (RU)
- Ministry of Health of the Russian Federation (RU)
- Research Centre for Medical Genetics (RU)
- Institute of Protein Research (RU)
- Moscow State University (TJ)
- Scientific Center of Children's Health (RU)
- Genetic Technologies (Australia) (AU)
- Research Center of Neurology (RU)
Publication Details
- Journal
- The Journal of Clinical Endocrinology & Metabolism
- Published
- 2024-12-06
- DOI
- https://doi.org/10.1210/clinem/dgae839
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 0.00