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.

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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
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article

Out-of-frame Translation Rescues a Loss-of-function Variant in a Novel TBCE Phenotype

Anatoliy Tiulpakov, Eugene Tatarskiy, Maria Kareva, S. A. Golyshev et al.
The Journal of Clinical Endocrinology & Metabolism
Congenital heart defects research
article

Out-of-frame Translation Rescues a Loss-of-function Variant in a Novel TBCE Phenotype

Anatoliy Tiulpakov, Eugene Tatarskiy, Maria Kareva, S. A. Golyshev, Anton V. Burakov, Ekaterina Lozier, V. Yu. Voinova, Anna V. Tvorogova, Peter Sparber, Mikhail Skoblov, Alexandra Filatova, Natalia Kalinchenko, Fedor A. Konovalov, Elena Frolova, Nina Makretskaya, E. V. Nagaeva, Evgeniia Ulas, Grigory Perelman, Vyacheslav Tabakov
article en

Abstract

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.

The Journal of Clinical Endocrinology & MetabolismVol. 110(8)
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)
Quality Education
Openalex Percentile: Top 80%
Congenital heart defects research
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