Results 101 to 110 of about 880,486 (157)

Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay

Background X‐linked Alport syndrome (XLAS) is an inherited renal disease caused by rare variants of COL4A5 on chromosome Xq22. Many studies have indicated that single nucleotide variants (SNVs) in exons can disrupt normal splicing process of the pre‐mRNA
Ran Zhang, Fengjiao Pan, Xuyan Liu, Xiaomeng Shi, Yiyin Zhang, Xin Teng, Leping Shao, Yanhua Lang, Dan Qiao   +8 more
core   +1 more source

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

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.
Amanda O. Taylor, Richard J. H. Smith, Yuzhou Zhang, Cobey J. H. Donelson, Nicolo Ghiringhelli Borsa   +4 more
core   +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 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

Novel pathogenic splicing mutation in <i>COL11A1</i> in a patient with Stickler syndrome verified by minigene splicing assay. [PDF]

Front Genet
Zhang J, Huang Y, Deng Y, Yang X, Shi H, Yang Y, Lv T, Yan Y, He M, Liu F.   +9 more
europepmc   +1 more source

The SeqSplice multiplexed minigene splicing assay for characterization and quantitation of variant-induced <i>BRCA1</i> and <i>BRCA2</i> splice isoforms. [PDF]

Genome Res
Canson DM, Parsons MT, Moir-Meyer G, Dumenil T, Montalban G, Lin E, McVeigh TP, Davidson AL, Bouckaert SM, Trau M, Korbie D, Spurdle AB.   +11 more
europepmc   +1 more source

Minigene-based characterization and classification of splice-associated variants in succinate dehydrogenase B. [PDF]

NPJ Precis Oncol
Köhler A, Baumann AA, Lewis N, Richter A, Richter S, William D, Cruz-García A, Glimm H, Fröhling S, Le Duc D, Schröck E, Jahn A.   +11 more
europepmc   +1 more source

Functional Validation of a Novel Homozygous <i>TTN</i> Splice-Site Variant Reveals Aberrant Splicing in Hypertrophic Cardiomyopathy. [PDF]

Hum Mutat
Sun X, Wang D, Wang S, Wan R, Jiang Z, Zhang W, Ouyang J, Shen Y, Hong K.   +8 more
europepmc   +1 more source

Reclassification of the <i>GRIA3</i> splice-site variant in an X-linked family with intellectual disability and psychiatric symptoms. [PDF]

Front Genet
Hu L, Chai Y, Liu X, Wang Y, Jiang H.
europepmc   +1 more source

Targeting <i>EZH2</i> oncogenic splicing: decoding the regulatory network and antisense correction. [PDF]

Genes Dev
Islam MR, Nagar P, McNaughton N, Heeamoni SA, Hasan MM, Kandel S, Mukta IJ, Tsakiroglou P, Dalton WB, Abdel-Wahab O, Krainer AR, Rahman MA.   +11 more
europepmc   +1 more source