Identification of a new COQ4 spliceogenic variant causing severe primary coenzyme Q deficiency

Autor: María Alcázar-Fabra, Elsebet Østergaard, Daniel J.M. Fernández-Ayala, María Andrea Desbats, Valeria Morbidoni, Laura Tomás-Gallado, Laura García-Corzo, María del Mar Blanquer-Roselló, Abigail K. Bartlett, Ana Sánchez-Cuesta, Lucía Sena, Ana Cortés-Rodríguez, María Victoria Cascajo-Almenara, David J. Pagliarini, Eva Trevisson, Sabine W. Gronborg, Gloria Brea-Calvo

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 42, Iss , Pp 101176- (2025)

Background and aims: Primary Coenzyme Q (CoQ) deficiency caused by COQ4 defects is a clinically heterogeneous mitochondrial condition characterized by reduced levels of CoQ10 in tissues. Next-generation sequencing has lately boosted the genetic diagn

Externí odkaz: https://doaj.org/article/8e9ebca35a5643d38b1e7d6f04a09cd9

A novel BRCA1 splicing variant detected in an early onset triple-negative breast cancer patient additionally carrying a pathogenic variant in ATM: A case report

Autor: Mara Colombo, Patrizia Mondini, Elisa Minenza, Claudia Foglia, Annamaria Mosconi, Carmen Molica, Lorenza Pistola, Vienna Ludovini, Paolo Radice

Publikováno v: Frontiers in Oncology, Vol 13 (2023)

The widespread adoption of gene panel testing for cancer predisposition is leading to the identification of an increasing number of individuals with clinically relevant allelic variants in two or more genes. The potential combined effect of these var

Externí odkaz: https://doaj.org/article/b76381f125064bd08ab9f1b78437c1f1

New Approach for Detection of Normal Alternative Splicing Events and Aberrant Spliceogenic Transcripts with Long-Range PCR and Deep RNA Sequencing

Autor: Vita Šetrajčič Dragoš, Vida Stegel, Ana Blatnik, Gašper Klančar, Mateja Krajc, Srdjan Novaković

Publikováno v: Biology, Vol 10, Iss 8, p 706 (2021)

RNA sequencing is a promising technique for detecting normal and aberrant RNA isoforms. Here, we present a new single-gene, straightforward 1-day hands-on protocol for detection of splicing alterations with deep RNA sequencing from blood. We have val

Externí odkaz: https://doaj.org/article/8c5dd3c4884b476ead904c9888179afe

New approach for detection of normal alternative splicing events and aberrant spliceogenic transcripts with long-range PCR and deep RNA sequencing

Autor: Vida Stegel, Srdjan Novaković, Mateja Krajc, Gašper Klančar, Ana Blatnik, Vita Setrajcic Dragos

Publikováno v: Biology, vol. 10, no. 8, pp. 706-1-706-12, 2021.
Biology, Vol 10, Iss 706, p 706 (2021)
Biology, str. 706-1-706-12, Vol. 10, no. 8, 2021
COBISS-ID: 523004441
Biology
Volume 10
Issue 8

RNA sequencing is a promising technique for detecting normal and aberrant RNA isoforms. Here, we present a new single-gene, straightforward 1-day hands-on protocol for detection of splicing alterations with deep RNA sequencing from blood. We have val

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32a0ddee4b5d7f3c593a01799641a8c4
https://dirros.openscience.si/Dokument.php?id=20589&dn=

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