Results 141 to 150 of about 880,486 (157)

When splicing is not all or none: GT>GC 5' splice-site variants as a model for intermediate effects and challenges in variant classification. [PDF]

HGG Adv
Lin JH, Wu H, Tang XY, Masson E, Stenson PD, Phillips AD, Cooper DN, Férec C, Liao Z, Zou WB, Chen JM.   +10 more
europepmc   +1 more source

Correction of aberrant splicing caused by intronic CAPN3 pathogenic variants using RNA-targeted therapeutic strategies in limb-girdle muscular dystrophy type R1. [PDF]

Orphanet J Rare Dis
Li G, Guo Y, Wang G, Liu H, Lv X, Lin P.
europepmc   +1 more source

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

Cancers, 2021
Neurofibromatosis type 1 (NF1) is caused by heterozygous loss of function mutations in the NF1 gene. Although patients are diagnosed according to clinical criteria and few genotype-phenotype correlations are known, molecular analysis remains important ...
Leonardo Salviati, Maurizio Clementi, Eva Trevisson   +2 more
exaly   +3 more sources

Principles and Practical Considerations for the Analysis of Disease-Associated Alternative Splicing Events Using the Gateway Cloning-Based Minigene Vectors pDESTsplice and pSpliceExpress

International Journal of Molecular Sciences, 2021
Splicing is an important RNA processing step. Genetic variations can alter the splicing process and thereby contribute to the development of various diseases.
Michael Hecker, Peter A. Lorenz, Brit Fitzner   +2 more
exaly   +2 more sources

Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay [PDF]

Clinical Chemistry and Laboratory Medicine, 2015
BACKGROUND: Cystic fibrosis, caused by mutations of the CFTR gene, is the most common autosomal recessive condition in the European population and there are specific screening programs aimed at investigating healthy carriers.
Leonardo Salviati, Maurizio Clementi, Eva Trevisson   +2 more
exaly   +2 more sources

A novel splicing variant in NBAS identified by minigene assay causes infantile liver failure syndrome type 2 [PDF]

Frontiers in Genetics
BackgroundInfantile liver failure syndrome type 2 (ILFS2) is an autosomal recessive disorder caused by biallelic NBAS variants, characterized by recurrent acute liver failure (ALF) typically triggered by febrile episodes.MethodsTrio-based whole-exome ...
Hongbo Liu, Anna Hu, Jun Liang, Xiaojia Zhang, Jinghui Jiang, Fujing Xie, Xin Zhou   +6 more
exaly   +2 more sources

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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, Irene Bottillo   +2 more
exaly  

Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay

Human Mutation, 2020
Nicolas Levy, Svetlana Gorokhova, Aurélia Defour   +2 more
exaly  

Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses

Molecular Genetics & Genomic Medicine, 2015
Carli M J Tops, Peter Devilee, Anne M L Jansen   +2 more
exaly  

Functional analysis by minigene assay of putative splicing variants found in Bardet–Biedl syndrome patients

Journal of Cellular and Molecular Medicine, 2017
Sheila Castro-Sánchez, Guillermo Pousada, Diana Valverde   +2 more
exaly