Results 91 to 100 of about 4,405 (166)

Protocol for designing and interpreting minigene assays to validate candidate splice altering variants

Summary Variants affecting RNA splicing are a major contributor to human disease, yet the consequences of variants outside of the canonical splice motifs are often difficult to determine. Here, we present a protocol for minigene-based evaluation of candidate splice-altering variants. The methodology described includes
Whitney Whitford, Suzanne M. Musgrave, Russell G. Snell, Jessie C. Jacobsen   +3 more
openaire   +1 more source

Effects of a Novel COL4A3 Homozygous/Heterozygous Splicing Mutation on the Mild Phenotype in a Family With Autosomal Recessive Alport Syndrome and a Literature Review

Molecular Genetics & Genomic Medicine
Background Alport syndrome involves chronic progressive kidney failure and extrarenal organ damage caused by COL4A3, COL4A4, and COL4A5 mutations. Methods We initially discerned a COL4A3 splicing mutation via next‐generation sequencing.
Dan Chen, Li Zhang, Jing Rao, Yan Zhou, Lujun Dai, Songsong Huang, Chunxia Yang, Qiuhan Bian, Tao Zhang, Xiaoyan Yang   +9 more
doaj   +1 more source

Functional evaluation of rare variants in complement factor I using a minigene assay

Frontiers in Immunology
The regulatory serine protease, complement factor I (FI), in conjunction with one of its cofactors (FH, C4BP, MCP, or CR1), plays an essential role in controlling complement activity through inactivation of C3b and C4b.
Cobey J. H. Donelson, Nicolo Ghiringhelli Borsa, Amanda O. Taylor, Richard J. H. Smith, Yuzhou Zhang   +4 more
doaj   +1 more source

Functional analyses of splice site variants in TCF12

Human Genomics
Pre-mRNA splicing is a fundamental step in protein synthesis within a cell. Malfunctions during this process can lead to dysfunctional proteins and thus, to a variety of different human diseases. Mis-splicing can be caused by genetic variants influencing
Angela Borst, Tilmann Schweitzer, Denise Horn, Erdmute Kunstmann, Eva-Maria König, Natalie Pluta, Eva Klopocki   +6 more
doaj   +1 more source

A panel of validated minigene-based splicing assays

A panel of validated minigene-based splicing assays for 11 BC-HR genes. We will synthesize minigenes covering all exons for the selected BC-HR genes. Constructs will be transfected into human epithelial (breast cancer) cell lines. RNA will be extracted and minigene transcripts will be amplified using plasmid-specific primers and analysed by CEP and ...
openaire   +1 more source

P533: Minigene splicing assay confirms the pathogenicity of the non-canonical splice site variant c.11+5G>A in RPE65

Genetics in Medicine Open, 2023
Madhulatha Pantrangi, Bin Guan, Kristy Lee, Nia Moore, William Hankey, Robert Hufnagel   +5 more
openaire   +2 more sources

A novel variant c.7104 + 6T > A of ABCA12 linked to autosomal recessive congenital ichthyosis verified by minigene splicing assay. [PDF]

Front Pediatr
Zhu L, Zhou R, Zhang L, Chen M, Zhang S, Huang X, Shi Y, Ding H.   +7 more
europepmc   +1 more source

A deep intronic IFT172 variant causing pseudoexon inclusion identified by whole-genome sequencing in nephronophthisis. [PDF]

CEN Case Rep
Sy PM, Baba M, Fujiwara K, Yamamura N, Kawato K, Nishi E, Aoyama S, Kimura Y, Inoki Y, Nagano C, Sakakibara N, Horinouchi T, Yamamura T, Ishimori S, Morisada N, Nozu K.   +15 more
europepmc   +1 more source

Identification and pathogenicity analysis of a novel intronic <i>COL4A5</i> variant in a Chinese family. [PDF]

Front Med (Lausanne)
Qian P, Huang HM, Suo L, Li Z, Zhang M, Bao Y.   +5 more
europepmc   +1 more source

Prenatal phenotypic delineation of a de novo EYA1 likely pathogenic variant in branchio-oto-renal syndrome. [PDF]

BMC Med Genomics
Sun L, Shu D, He W, Ma R, Tao H, Yang Z, Li Y, Liu Z, Zhang Y, Zhao Y.   +9 more
europepmc   +1 more source