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Описан новый фенотип редкого генетического заболевания с уникальным молекулярным механизмом

Специалисты Отдела функциональной геномики Медико-генетического научного центра имени академика Н.П. Бочкова описали семь пациентов с патогенными вариантами в гене TBCE, которые имеют новый, ранее неизвестный в литературе фенотип. Также ученые установили молекулярные причины его развития. Исследование опубликовано в журнале The Journal of Сlinical Endocrinology & Metabolism.

https://indicator.ru/medicine/opisan-novyi-fenotip-redkogo-geneticheskogo-zabolevaniya-s-unikalnym-molekulyarnym-mekhanizmom-25-12-2024.htm



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Описан новый фенотип редкого генетического заболевания с уникальным молекулярным механизмом

Специалисты Отдела функциональной геномики Медико-генетического научного центра имени академика Н.П. Бочкова описали семь пациентов с патогенными вариантами в гене TBCE, которые имеют новый, ранее неизвестный в литературе фенотип. Также ученые установили молекулярные причины его развития. Исследование опубликовано в журнале The Journal of Сlinical Endocrinology & Metabolism.

https://indicator.ru/medicine/opisan-novyi-fenotip-redkogo-geneticheskogo-zabolevaniya-s-unikalnym-molekulyarnym-mekhanizmom-25-12-2024.htm

BY Indicator.Ru




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The regulator said it has been undertaking several campaigns to educate the investors to be vigilant while taking investment decisions based on stock tips. Asked about its stance on disinformation, Telegram spokesperson Remi Vaughn told AFP: "As noted by our CEO, the sheer volume of information being shared on channels makes it extremely difficult to verify, so it's important that users double-check what they read." But Kliuchnikov, the Ukranian now in France, said he will use Signal or WhatsApp for sensitive conversations, but questions around privacy on Telegram do not give him pause when it comes to sharing information about the war. This ability to mix the public and the private, as well as the ability to use bots to engage with users has proved to be problematic. In early 2021, a database selling phone numbers pulled from Facebook was selling numbers for $20 per lookup. Similarly, security researchers found a network of deepfake bots on the platform that were generating images of people submitted by users to create non-consensual imagery, some of which involved children. At the start of 2018, the company attempted to launch an Initial Coin Offering (ICO) which would enable it to enable payments (and earn the cash that comes from doing so). The initial signals were promising, especially given Telegram’s user base is already fairly crypto-savvy. It raised an initial tranche of cash – worth more than a billion dollars – to help develop the coin before opening sales to the public. Unfortunately, third-party sales of coins bought in those initial fundraising rounds raised the ire of the SEC, which brought the hammer down on the whole operation. In 2020, officials ordered Telegram to pay a fine of $18.5 million and hand back much of the cash that it had raised.
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