Results 131 to 140 of about 6,757 (149)

Use of Splicing Reporter Minigene Assay to Evaluate the Effect on Splicing of Unclassified Genetic Variants

Methods in Molecular Biology, 2010
The interpretation of the numerous sequence variants of unknown biological and clinical significance (UV for "unclassified variant") found in genetic screenings represents a major challenge in the molecular diagnosis of genetic disease, including cancer susceptibility. A fraction of UVs may be deleterious because they affect mRNA splicing.
Pascaline Gaildrat, Thierry Frébourg, Alexandra Martins   +2 more
exaly   +5 more sources

Novel pathogenic splicing mutation in COL11A1 in a patient with Stickler syndrome verified by minigene splicing assay

Frontiers in Genetics
BackgroundStickler syndrome (STL) is a group of related connective tissue disorders characterized by heterogeneous clinical presentations with varying degrees of orofacial, ocular, skeletal, and auditory abnormalities. However, this condition is difficult to diagnose on the basis of clinical features because of phenotypic variability.
Ming He, Lv Tao
exaly   +3 more sources

Identification of seven variants in the col4a1 gene that alter RNA splicing by minigene assay

Clinical Genetics
Abstract Type IV collagen is an integral component of basement membranes. Mutations in COL4A1, one of the key genes encoding Type IV collagen, can result in a variety of diseases. It is clear that a significant proportion of mutations that affect splicing can cause disease directly or contribute to the susceptibility or severity of ...
Wang, Zhi, Sun, Yan, Zhang, Yiyin, Zhang, Yan, Zhang, Ran, Li, Changying, Liu, Xuyan, Pan, Fengjiao, Qiao, Dan, Shi, Xiaomeng, Zhang, Bingying, Xu, Ning, Bottillo, Irene, Shao, Leping   +13 more
openaire   +3 more sources

Minigene splicing reporter assay: a high-stake tool for genetic diagnosis in familial hypobetalipoproteinemia

Atherosclerosis
Familial hypobetalipoproteinemia 1 (FHBL-SD2) is the most common monogenic form of primary hypocholesterolaemia, related to truncating variants in the APOB gene encoding apolipoprotein B. Due to its high level of complexity, variants of uncertain significance (VUS) require further investigations.
Henry, Zoé, Janin, Alexandre, Nony, Séverine, Marmontel, Oriane, Charrière, Sybil, Moulin, Philippe, Marrec, Marie, Wargny, Matthieu, Cariou, Bertrand, Di Filippo, Mathilde   +9 more
openaire   +2 more sources

Splicing functional assays of a single minigene with eight exons of the BRCA2 gene

2015
Splicing disruptions is one key pathogenic mechanism in inherited diseases. We are currently investigating the contribution of aberrant splicing of BRCA1/2 genes to hereditary breast/ovarian cancer. A powerful approach to study the splicing outcomes of DNA variants is a splicing reporter minigene especially when patient RNA is not available.
Acedo, Alberto, Díez-Gómez, Beatriz, Curiel-García, Álvaro, Hernández-Moro, Cristina, Infante, Mar, Miner, Cristina, Durán, Mercedes, Velasco, Eladio   +7 more
openaire   +2 more sources

Splicing functional assays of a BRCA1 minigene with exons 15-19

2015
Resumen del póster presentado a la European Human Genetics Conference celebrada en Paris (Francia) del 9 al 11 de junio de 2013.
Hernández-Moro, Cristina, Curiel-García, Álvaro, Díez-Gómez, Beatriz, Acedo, Alberto, Infante, Mar, Durán, Mercedes, Velasco, Eladio   +6 more
openaire   +1 more source

Minigene assay for verifying the splicing effects of the rare variants in the SLC12A2 gene at c.2930-1G>a

Acta Oto-Laryngologica
Hearing loss (HL) is a prevalent sensory impairment with a genetic basis. The SLC12A2 gene, encoding NKCC1, is vital for inner ear ion balance. The c.2930-1G > A variant is a novel mutation potentially linked to sensorineural hearing loss.To investigate the splicing and protein expression effects of the c.2930-1G>A variant in SLC12A2 and its role in ...
Lin, Mengsi, Zhu, Qingwen, Cui, Aimin, Wang, Jing   +3 more
exaly   +3 more sources

Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of NF1 Variants

Cancers, 2021
Leonardo Salviati, Maurizio Clementi, Eva Trevisson   +2 more
exaly  

Identification of seven exonic variants in the SLC4A1 , ATP6V1B1 , and ATP6V0A4 genes that alter RNA splicing by minigene assay

Human Mutation, 2021
Zhiying Liu, Ruixiao Zhang, Irène Bottillo   +2 more
exaly  

Molecular dynamics and minigene assay of new splicing variant c.4298-20T>A of COL4A5 gene that cause Alport syndrome

Frontiers in Genetics, 2023
exaly