Results 21 to 30 of about 9,190 (179)

Inhibition of Translation and Cell Growth by Minigene Expression [PDF]

Journal of Bacteriology, 1999
ABSTRACT A random five-codon gene library was used to isolate minigenes whose expression causes cell growth arrest. Eight different deleterious minigenes were isolated, five of which had in-frame stop codons; the predicted expressed peptides ranged in size from two to five amino acids.
T, Tenson, J V, Herrera, P, Kloss, G, Guarneros, A S, Mankin   +4 more
openaire   +2 more sources

A novel SLC26A4 splicing mutation identified in two deaf Chinese twin sisters with enlarged vestibular aqueducts

Molecular Genetics & Genomic Medicine, 2020
Background Variants in the SLC26A4 gene are correlated with nonsyndromic hearing loss with an enlarged vestibular aqueduct (EVA). This study aimed to identify the genetic causes in a Chinese family with EVA, and the pathogenicity of the detected variants.
Kai Zhou, Lancheng Huang, Menglong Feng, Xinlei Li, Yi Zhao, Fei Liu, Jiazhang Wei, Danxue Qin, Qiutian Lu, Min Shi, Shenhong Qu, Fengzhu Tang   +11 more
doaj   +1 more source

Detection and Functional Verification of Noncanonical Splice Site Mutations in Hereditary Deafness

Frontiers in Genetics, 2021
Splice site mutations contribute to a significant portion of the genetic causes for mendelian disorders including deafness. By next-generation sequencing of 4 multiplex, autosomal dominant families and 2 simplex, autosomal recessive families with ...
Penghui Chen, Penghui Chen, Penghui Chen, Penghui Chen, Longhao Wang, Longhao Wang, Longhao Wang, Yongchuan Chai, Yongchuan Chai, Yongchuan Chai, Hao Wu, Hao Wu, Hao Wu, Tao Yang, Tao Yang, Tao Yang   +15 more
doaj   +1 more source

The Contribution of COL4A5 Splicing Variants to the Pathogenesis of X-Linked Alport Syndrome

Frontiers in Medicine, 2022
X-linked Alport syndrome (XLAS) is caused by pathogenic variants in COL4A5 and is characterized by progressive kidney disease, hearing loss, and ocular abnormalities.
Tomohiko Yamamura, Tomohiko Yamamura, Tomoko Horinouchi, Yuya Aoto, Rachel Lennon, Rachel Lennon, Kandai Nozu   +6 more
doaj   +1 more source

A novel minigene scaffold for therapeutic cancer vaccines [PDF]

OncoImmunology, 2014
Genetic vaccines are emerging as a powerful modality to induce T-cell responses to target tumor associated antigens (TAA). Viral or plasmid DNA or RNA vectors harbor an expression cassette encoding the antigen of choice delivered in vivo by vaccination. In this context, immunizations with minigenes containing selected, highly antigenic, T-cell epitopes
Aurisicchio, Luigi, Fridman, Arthur, Bagchi, Ansuman, Scarselli, Elisa, La Monica, Nicola, Ciliberto, Gennaro   +5 more
openaire   +2 more sources

Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone

HGG Advances, 2022
Summary: Predicting the pathogenicity of acceptor splice-site variants outside the essential AG is challenging, due to high sequence diversity of the extended splice-site region. Critical analysis of 24,445 intronic extended acceptor splice-site variants
Samantha J. Bryen, Michaela Yuen, Himanshu Joshi, Ruebena Dawes, Katharine Zhang, Jessica K. Lu, Kristi J. Jones, Christina Liang, Wui-Kwan Wong, Anthony J. Peduto, Leigh B. Waddell, Frances J. Evesson, Sandra T. Cooper   +12 more
doaj   +1 more source

A deep intronic splice variant of the COL4A5 gene in a Chinese family with X-linked Alport syndrome

Frontiers in Pediatrics, 2023
BackgroundX-linked Alport syndrome (XLAS) is caused by pathogenic variants in COL4A5 and is characterized by progressive kidney disease, hearing loss, and ocular abnormalities.The aim of this study was to identify gene mutations in a Chinese family with ...
Pei Qian, Ying Bao, Hui-mei Huang, Lei Suo, Yan Han, Zhi-juan Li, Min Zhang   +6 more
doaj   +1 more source

Transcriptional Silencing of Nonsense Codon-Containing Immunoglobulin Minigenes [PDF]

Molecular Cell, 2005
Cells possess mechanisms to prevent synthesis of potentially deleterious truncated proteins caused by premature translation-termination codons (PTCs). Here, we show that PTCs can induce silencing of transcription of its cognate gene. We demonstrate for immunoglobulin (Ig)-mu minigenes expressed in HeLa cells that this transcriptional silencing is PTC ...
Bühler, Marc, Mohn, Fabio, Stalder, Lukas, Mühlemann, Oliver   +3 more
openaire   +3 more sources

UGT1A1 Variants c.864+5G>T and c.996+2_996+5del of a Crigler-Najjar Patient Induce Aberrant Splicing in Minigene Assays

Frontiers in Genetics, 2020
A large fraction of DNA variants impairs pre-mRNA splicing in human hereditary disorders. Crigler-Najjar syndrome (CNS) is characterized by a severe unconjugated hyperbilirubinemia caused by variants in the UGT1A1 gene.
Linda Gailite, Alberto Valenzuela-Palomo, Lara Sanoguera-Miralles, Dmitrijs Rots, Madara Kreile, Eladio A. Velasco   +5 more
doaj   +1 more source

Diversity of clinical phenotypes in a cohort of Han Chinese patients with PAX6 variants

Frontiers in Genetics, 2023
The PAX6 gene plays an important role in ocular development. Mutations of the PAX6 gene may result in a series of ocular abnormalities, including congenital aniridia, anterior segment dysgenesis (ASD), progressive corneal opacification, glaucoma, and ...
Lijuan Huang, Lijuan Huang, Jiajia Peng, Yan Xie, Yunyu Zhou, Xiaolin Wang, Hui Wang, Jingang Gui, Ningdong Li, Ningdong Li, Ningdong Li, Ningdong Li   +11 more
doaj   +1 more source