Results 101 to 110 of about 11,911 (175)

Binding affinities of ASOs for the SOD-1 minigene mRNA spiked into the denatured nuclear extract and mRNA transcribed and spliced in the nuclear extract.

, 2014
Differences in the binding affinities (ΔKd) between the two targets were calculated by dividing the Kd of the ASOs for the SOD-1 minigene mRNA transcribed and spliced in the nuclear extract by the Kd for the SOD-1 minigene mRNA spiked into the denatured ...
Josh Nichols (605767), Walt F. Lima (449545), Timothy A. Vickers (605766), Cheryl Li (605768), Stanley T. Crooke (449546)   +4 more
core   +1 more source

On- and off-target ASO binding to the SOD-1 minigene mRNA.

, 2014
(A) Orange line represents the ASO binding profile for the mRNA spiked into the denatured nuclear extract obtained using exon 4-specific primers (red arrows).
Josh Nichols (605767), Walt F. Lima (449545), Timothy A. Vickers (605766), Cheryl Li (605768), Stanley T. Crooke (449546)   +4 more
core   +1 more source

Two homozygous adjacent novel missense mutations in DYSF gene caused dysferlinopathy due to splicing abnormalities

Frontiers in Genetics
Background: Dysferlinopathy is an autosomal recessive disorder caused by mutations in the DYSF gene. This study reported two homozygous adjacent missense mutations in the DYSF gene, presenting clinically with bilateral lower limb weakness and calf ...
Lun Wang, Yan Zhou, Tiantian Wei, Hongyao Huang, Hongyao Huang   +4 more
doaj   +1 more source

Three exonic variants in the PHEX gene cause aberrant splicing in a minigene assay [PDF]

Background: X-linked hypophosphatemia (XLH, OMIM 307800) is a rare phosphorus metabolism disorder caused by PHEX gene variants. Many variants simply classified as missense or nonsense variants were only analyzed at the DNA level.
Shufang Luan, Fengjiao Pan, Qing Xin, Xuyan Liu, Wencong Guo, Xiaomeng Shi, Changying Li, Yan Zhang, Mengke Chen, Ruixiao Zhang, Leping Shao, Dan Qiao   +11 more
core   +1 more source

Case Report: Minigene assays reveal a novel DNAAF6 intronic variant as the key etiology for primary ciliary dyskinesia

Frontiers in Genetics
BackgroundPrimary ciliary dyskinesia (PCD), a rare hereditary disorder characterized by impaired ciliary motility, is frequently linked to infertility. Elucidating PCD’s genetic basis is critical for accurate diagnosis and clinical management.
Yupeng Long, Huixian Li, Haoyue Yu, Qian Yi, Xiong Meng, Xi Wang, Qinqin Ren, Dongyan Ding, Haidong Li, Fenglan Zhang, Hao Qiu, Xuemei Yang   +11 more
doaj   +1 more source

Case Report: A novel intronic variant of NIPBL gene detected in a child with cornelia de lange syndrome

Frontiers in Genetics
BackgroundCornelia de Lange syndrome (CdLS) is a genetically heterogeneous disorder involving multi-system organs, causing physical and mental congenital malformation.
Xiao Ting Shao, Yu Xuan Dai, Yu Fang Zhao, Yu Hang Chen, Ling Jing Ying   +4 more
doaj   +1 more source

Improved gene expression upon transfer of the adenosine deaminase minigene outside the transcriptional unit of a retroviral vector

, 1989
This study describes a type of retroviral vector called double-copy (DC) vector that was designed to improve the expression of transduced genes. The unique feature of DC vectors is that the transduced gene is inserted within the U3 region of the 3' long ...
Hantzopoulos, P A, Sullenger, B A, Ungers, G, Gilboa, E   +3 more
core   +1 more source

Identification and functional characteristics of a novel splice site variant in L1CAM caused X-linked hydrocephalus

Frontiers in Genetics
BackgroundThe L1CAM gene encodes an axonal glycoprotein belonging to the immunoglobulin supergene family that plays a crucial role in nervous system development.
Shijie Zhou, Shijie Zhou, Hao Zhang, Hao Zhang, Xue Li, Xue Li, Quan Chen, Quan Chen, Zhihong Xu, Zhihong Xu   +9 more
doaj   +1 more source

Novel SSR4 gene splice variant leads to congenital disorder of glycosylation, type Iy

Frontiers in Pediatrics
BackgroundCongenital disorders of glycosylation (CDG) are a group of multi-systemic genetic disorders. Over 100 monogenic human diseases were known related with defects in glycosylation process. Defects of SSR4 gene lead to a rare X linked pattern of CDG
Ning Li, Chen Chen
doaj   +1 more source

Effect of the Kozak sequence on transient expression of human coagulation factor IX (FIX) minigene in mammalian cells

, 2009
Background: The positive effect of Kozak sequence on the translational efficiency of the eukaryotic genes has been noted and can be used in order to increase recombinant protein expression.
Alireza Zomorodi pour, Sedigheh Safary, farzaneh Sabooni, Seyed Javad Hosseini, Mohamad reza Saam, Aliakbar Hadad Mashhadrizeh   +5 more
core