Results 81 to 90 of about 880,486 (157)

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

International audienceBackground & aims: 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
Janin, Alexandre, Moulin, Philippe, Marmontel, Oriane, Marrec, Marie, Di Filippo, Mathilde, Cariou, Bertrand, Wargny, Matthieu, Charrière, Sybil, Henry, Zoé, Nony, Séverine   +9 more
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Pathogenic relationship between phenotypes of ARPKD and novel compound heterozygous mutations of PKHD1

Frontiers in Genetics
BackgroundTo investigate whether the novel mutation of PKHD1 could cause polycystic kidney disease by affecting splicing with a recessive inheritance pattern.MethodsA nonconsanguineous Chinese couple with two recurrent pregnancies showed fetal enlarged ...
Xinrong Zhang, Xinrong Zhang, Xinrong Zhang, Jiebin Wu, Jiebin Wu, Jianteng Zhou, Jie Liang, Jie Liang, Jie Liang, Yu Han, Yu Han, Yu Han, Yunmeng Qi, Yunmeng Qi, Yunmeng Qi, Tao Zhu, Dejian Yuan, Zuobin Zhu, Zuobin Zhu, Jingfang Zhai, Jingfang Zhai, Jingfang Zhai, Jingfang Zhai   +22 more
doaj   +1 more source

A novel pathogenic splicing mutation of RPGR in a Chinese family with X-linked retinitis pigmentosa verified by minigene splicing assay. [PDF]

Int J Ophthalmol, 2023
Wang HQ, Cong PK, He T, Yu XF, Huo YN.
europepmc   +1 more source

Case report: Successful PGT-M based on the identification of a spliceogenic variant in the RPGRIP1L gene through Minigene assay

Frontiers in Genetics
With the development of high-throughput sequencing, the genetic etiology of many diseases has been revealed. However, this has also led to the categorization of many variants as variants of uncertain significance (VUSs), presenting a major challenge in ...
Huiling Xu, Jiajie Pu, Zhengzhong Wu, Shuhan Guo, Xuemei Li   +4 more
doaj   +1 more source

Functional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exons [PDF]

, 2015
This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License.Numerous pathogenic DNA variants impair the splicing mechanism in human genetic diseases.
Acedo, Alberto, Curiel-García, Álvaro, Díez-Gómez, Beatriz, Hernández-Moro, Cristina, Velasco, Eladio   +4 more
core   +1 more source

A novel heterozygous splice-altering mutation in HFM1 may be a cause of premature ovarian insufficiency

Journal of Ovarian Research, 2019
Background Premature ovarian insufficiency (POI) leads to early loss of ovarian function in women aged  A) associated with POI was identified by whole-exome sequencing.
Jing Zhe, Shiling Chen, Xin Chen, Yudong Liu, Ying Li, Xingyu Zhou, Jun Zhang   +6 more
doaj   +1 more source

Dual Fluorescence Splicing Reporter Minigene Identifies an Antisense Oligonucleotide to Skip Exon v8 of the CD44 Gene

, 2020
Splicing reporter minigenes are used in cell-based in vitro splicing studies. Exon skippable antisense oligonucleotide (ASO) has been identified using minigene splicing assays, but these assays include a time- and cost-consuming step of reverse ...
Kazumichi Fujioka, Manal Farea, Abdul Qawee Mahyoob Rani, Sachiyo Fukushima, Hisahide Nishio, Kazuhiro Maeta, Masafumi Matsuo   +6 more
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Computational prediction of splicing regulatory elements shared by Tetrapoda organisms [PDF]

, 2009
Background: auxiliary splicing sequences play an important role in ensuring accurate and efficient splicing by promoting or repressing recognition of authentic splice sites.
Churbanov, Alexander, Hicks, Chindo, Churbanov Alexander, Vořechovský, Igor, Chindo Hicks, Vořechovský Igor, Hicks Chindo, Igor Vořechovský, Alexander Churbanov   +8 more
core   +1 more source

Intrinsic Alu affects for RNA splicing in a minigene model

Alu elements are commonly located in the introns of primate genomes and, once transcribed, can alter splicing patterns. The insertion of an antisense Alu element into intron 9 was shown to enhance exon 10 skipping in a previously developed ACAT1 minigene
Mina Nakama, Bunta Imanaka, Yuma Kimoto
core   +1 more source

Splicing defects in the CFTR gene: Minigene analysis of two mutations, 1811+1G>C and 1898+3A>G [PDF]

, 2011
BackgroundCystic fibrosis is caused by mutations of the Cystic Fibrosis Transmembrane conductance Regulator gene (CFTR). Among the 1795 reported mutations, 221 (12.31%) are believed to affect pre-mRNA splicing.
Catherine Le Jossic-Corcos, Ferec, Claude, Gwendal Dujardin, Laurent Corcos, Le Jossic-Corcos, Catherine, Commandeur, Diane, Diane Commandeur, Claude Ferec, Corcos, Laurent, Dujardin, Gwendal   +9 more
core   +1 more source