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Клинические и молекулярно-генетические особенности нейрофиброматоза 2 типа

https://doi.org/10.25557/2073-7998.2021.10.3-12

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Аннотация

Нейрофиброматоз 2 типа - редкое генетическое заболевание, этиологическим фактором развития которого являются мутации в гене-онкосупрессоре NF2, кодирующем белок мерлин. В обзоре подробно описаны структура, функции и посттрансляционные модификации мерлина, освещены клинические особенности нейрофиброматоза 2 типа, известные клинико-генетические корреляции, а также представлена информация о сайтах связывания мерлина и о функциональном вкладе расположенных в них мутаций, что закладывает базис персонализированной терапии нейрофиброматоза 2 типа.

Об авторах

К. О. Карандашева
ФГБНУ «Медико-генетический научный центр имени академика Н.П. Бочкова»
Россия


Е. С. Макашова
ФГАУ «НМИЦ нейрохирургии им. академика Н.Н. Бурденко» Минздрава России; ГБУЗ МКНЦ имени А.С. Логинова ДЗМ
Россия


А. А. Мартьянова
ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава России
Россия


К. И. Аношкин
ФГБНУ «Медико-генетический научный центр имени академика Н.П. Бочкова»
Россия


С. В. Золотова
ФГАУ «НМИЦ нейрохирургии им. академика Н.Н. Бурденко» Минздрава России
Россия


В. В. Стрельников
ФГБНУ «Медико-генетический научный центр имени академика Н.П. Бочкова»
Россия


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Рецензия

Для цитирования:


Карандашева К.О., Макашова Е.С., Мартьянова А.А., Аношкин К.И., Золотова С.В., Стрельников В.В. Клинические и молекулярно-генетические особенности нейрофиброматоза 2 типа. Медицинская генетика. 2021;20(10):3-12. https://doi.org/10.25557/2073-7998.2021.10.3-12

For citation:


Karandasheva K.O., Makashova E.S., Martyanova A.A., Anoshkin K.I., Zolotova S.V., Strelnikov V.V. Clinical and molecular genetic features of neurofibromatosis type. Medical Genetics. 2021;20(10):3-12. (In Russ.) https://doi.org/10.25557/2073-7998.2021.10.3-12

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ISSN 2073-7998 (Print)