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Advances in the Study of Common and Rare CFTR Complex Alleles Using Intestinal Organoids.
Krasnova, Maria; Efremova, Anna; Mokrousova, Diana; Bukharova, Tatiana; Kashirskaya, Nataliya; Kutsev, Sergey; Kondratyeva, Elena; Goldshtein, Dmitry.
Afiliación
  • Krasnova M; Research Centre for Medical Genetics, Moscow 115522, Russia.
  • Efremova A; Research Centre for Medical Genetics, Moscow 115522, Russia.
  • Mokrousova D; Research Centre for Medical Genetics, Moscow 115522, Russia.
  • Bukharova T; Research Centre for Medical Genetics, Moscow 115522, Russia.
  • Kashirskaya N; Research Centre for Medical Genetics, Moscow 115522, Russia.
  • Kutsev S; Moscow Regional Research and Clinical Institute ("MONIKI"), Schepkina Street, 61/2, 1, Moscow 129110, Russia.
  • Kondratyeva E; Research Centre for Medical Genetics, Moscow 115522, Russia.
  • Goldshtein D; Research Centre for Medical Genetics, Moscow 115522, Russia.
J Pers Med ; 14(2)2024 Jan 23.
Article en En | MEDLINE | ID: mdl-38392563
ABSTRACT
Complex alleles (CAs) arise when two or more nucleotide variants are present on a single allele. CAs of the CFTR gene complicate the cystic fibrosis diagnosis process, classification of pathogenic variants, and determination of the clinical picture of the disease and increase the need for additional studies to determine their pathogenicity and modulatory effect in response to targeted therapy. For several different populations around the world, characteristic CAs of the CFTR gene have been discovered, although in general the prevalence and pathogenicity of CAs have not been sufficiently studied. This review presents examples of using intestinal organoid models for assessments of the two most common and two rare CFTR CAs in individuals with cystic fibrosis in Russia.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: J Pers Med Año: 2024 Tipo del documento: Article País de afiliación: Rusia Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: J Pers Med Año: 2024 Tipo del documento: Article País de afiliación: Rusia Pais de publicación: Suiza