Results 141 to 150 of about 4,405 (166)

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

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.
Gaildrat, Pascaline, Killian, Audrey, Martins, Alexandra, Tournier, Isabelle, Frebourg, Thierry, Tosi, Mario   +5 more
openaire   +4 more sources

Intronic variants of SLC26A4 gene enhance splicing efficiency in hybrid minigene assay

Gene, 2017
The SLC26A4 genomic sequence screening in autoimmune thyroid diseases (AITD) revealed different variants types with possible pathogenic effects. Although intronic variants may have more detrimental effects than those coding, they are poorly explored. Thus, in a first assessment, our bioinformatics analysis of intronic variants predicted a pathogenic ...
Rihab, Kallel-Bouattour, Salima, Belguith-Maalej, Emna, Zouari-Bradai, Mouna, Mnif, Mohamed, Abid, Hassen, Hadj Kacem   +5 more
openaire   +2 more sources

In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay

Molecular Biology Reports, 2014
Mutations in the chloride channel gene CLCN1 cause the allelic disorders Thomsen (dominant) and Becker (recessive) myotonia congenita (MC). The encoded protein, ClC-1, is the primary channel that mediates chloride (Cl-) conductance in skeletal muscle.
G. Ulzi, V.A. Sansone, F. Magri, S. Corti, N. Bresolin, G.P. Comi, S. Lucchiari   +6 more
openaire   +2 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 Assay as an Effective Molecular Diagnostic Strategy in Determining the Pathogenicity of Noncanonical Splice-Site Variants in FLCN

The Journal of Molecular Diagnostics, 2023
Primary spontaneous pneumothorax (PSP) or pulmonary cyst is one of the manifestations of Birt-Hogg-Dubé syndrome, which is caused by pathogenic variants in FLCN gene. Genetic testing in patients with PSP identifies a certain number of missense or intronic variants.
Xinxin Zhang, Minghui Cai, Yuanchun Ma, Jie Chen, Shaoping Huang, Mengru Cai, Yibing Ding, Dehua Ma, Qian Gao, Xiaowen Hu, Chengchu Zhu, Long Yi   +11 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

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 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

Identification of the synonymous variant c.3141G > A in TNRC6B gene that altered RNA splicing by minigene assay

Molecular Biology Reports
Global developmental delay with speech and behavioral abnormalities (OMIM: 619243) is an autosomal dominant disease caused by variants in TNRC6B gene.We reviewed and summarized clinical manifestations and genotypes in patients previously reported with TNRC6B gene variants. We used several prediction tools to predict pathogenicity and performed minigene
Feiyu, Zhou, Hongping, Zhong, Bo, Wu, Yaqiong, Cui, Jiaci, Li, Xiaodong, Jia, Changshun, Yu, Dong, Li, Jianbo, Shu, Chunquan, Cai   +9 more
openaire   +2 more sources