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Akademický článek

Optimization strategies and advances in the research and development of AAV‐based gene therapy to deliver large transgenes

Autor: Valeria V. Kolesnik, Ruslan F. Nurtdinov, Ezekiel Sola Oloruntimehin, Alexander V. Karabelsky, Alexander S. Malogolovkin

Publikováno v: Clinical and Translational Medicine, Vol 14, Iss 3, Pp n/a-n/a (2024)

Abstract Adeno‐associated virus (AAV)‐based therapies are recognized as one of the most potent next‐generation treatments for inherited and genetic diseases. However, several biological and technological aspects of AAV vectors remain a critical

Externí odkaz: https://doaj.org/article/5df796987ecc465eaa9030b1bc810ca7

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Akademický článek

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Akademický článek

Identification of Deep-Intronic Splice Mutations in a Large Cohort of Patients With Inherited Retinal Diseases

Autor: Xinye Qian, Jun Wang, Meng Wang, Austin D. Igelman, Kaylie D. Jones, Yumei Li, Keqing Wang, Kerry E. Goetz, David G. Birch, Paul Yang, Mark E. Pennesi, Rui Chen

Publikováno v: Frontiers in Genetics, Vol 12 (2021)

High throughput sequencing technologies have revolutionized the identification of mutations responsible for a diverse set of Mendelian disorders, including inherited retinal disorders (IRDs). However, the causal mutations remain elusive for a signifi

Externí odkaz: https://doaj.org/article/3e3a6266da2f4611be6ca382616b4c69

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Akademický článek

Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15

Autor: Eugenia Fraile-Bethencourt, Alberto Valenzuela-Palomo, Beatriz Díez-Gómez, María José Caloca, Susana Gómez-Barrero, Eladio A. Velasco

Publikováno v: Frontiers in Genetics, Vol 10 (2019)

A relevant fraction of BRCA2 variants is associated with splicing alterations and with an increased risk of hereditary breast and ovarian cancer (HBOC). In this work, we have carried out a thorough study of variants from BRCA2 exons 14 and 15 reporte

Externí odkaz: https://doaj.org/article/282e5669a8654b8e8853dedf1b39d3c5

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Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants

Autor: Elena Bueno‐Martínez, Lara Sanoguera‐Miralles, Alberto Valenzuela‐Palomo, Ada Esteban‐Sánchez, Víctor Lorca, Inés Llinares‐Burguet, Jamie Allen, Alicia García‐Álvarez, Pedro Pérez‐Segura, Mercedes Durán, Douglas F Easton, Peter Devilee, Maaike PG Vreeswijk, Miguel de la Hoya, Eladio A Velasco‐Sampedro

Publikováno v: Digital.CSIC. Repositorio Institucional del CSIC
instname
The Journal of Pathology, 258(1), 83-101. WILEY

The ataxia telangiectasia-mutated (ATM) protein is a major coordinator of the DNA damage response pathway. ATM loss-of-function variants are associated with 2-fold increased breast cancer risk. We aimed at identifying and classifying spliceogenic ATM

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14fbed054193fc8de9b8884d6a963382

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Akademický článek

Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays

Autor: Eugenia Fraile-Bethencourt, Alberto Valenzuela-Palomo, Beatriz Díez-Gómez, Alberto Acedo, Eladio A. Velasco

Publikováno v: Frontiers in Genetics, Vol 9 (2018)

Genetic testing of BRCA1 and BRCA2 identifies a large number of variants of uncertain clinical significance whose functional and clinical interpretations pose a challenge for genetic counseling. Interestingly, a relevant fraction of DNA variants can

Externí odkaz: https://doaj.org/article/f2daad1698fa42b398486ddd1bc06bcd

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Minigene splicing assays identify 20 spliceogenic variants of the breast/Ovarian cancer susceptibility gene RAD51C

Autor: Lara Sanoguera-Miralles, Elena Bueno-Martínez, Alberto Valenzuela-Palomo, Ada Esteban-Sánchez, Inés Llinares-Burguet, Pedro Pérez-Segura, Alicia García-Álvarez, Miguel de la Hoya, Eladio A. Velasco-Sampedro

Publikováno v: Digital.CSIC. Repositorio Institucional del CSIC
instname
Cancers; Volume 14; Issue 12; Pages: 2960

RAD51C loss-of-function variants are associated with an increased risk of breast and ovarian cancers. Likewise, splicing disruptions are a frequent mechanism of gene inactivation. Taking advantage of a previous splicing-reporter minigene with exons 2

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a08efc1652da86ebe3076a3520d43f79
http://hdl.handle.net/10261/281637

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Splicing analysis of 16 PALB2 clinVar variants by minigene assays: identification of six likely pathogenic variants

Autor: Alberto Valenzuela-Palomo, Lara Sanoguera-Miralles, Elena Bueno-Martínez, Ada Esteban-Sánchez, Inés Llinares-Burguet, Alicia García-Álvarez, Pedro Pérez-Segura, Susana Gómez-Barrero, Miguel de la Hoya, Eladio A. Velasco-Sampedro

Publikováno v: Digital.CSIC. Repositorio Institucional del CSIC
instname
Cancers; Volume 14; Issue 18; Pages: 4541

PALB2 loss-of-function variants are associated with significant increased risk of breast cancer as well as other types of tumors. Likewise, splicing disruptions are a common mechanism of disease susceptibility. Indeed, we previously showed, by minige

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::460668b18447c16827e0cf17cde97746
http://hdl.handle.net/10261/282544

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