Results 31 to 40 of about 11,911 (175)

Minigene library vaccine minigenes.

, 2016
Microsoft Excel formatted spreadsheet with two worksheets (Vaccine 1 and Vaccine 2) listing the Vaccine (column A), gene ID (column B), product description (column C), minigene name (column D), vaccine-specific pool number (column E), minigene sequence ...
Sean C. Murphy (565383), Arnold Kas (188137), Brad C. Stone (2607832), Jay Shendure (814), James T. Fuller (364248), Zachary P. Billman (565387), Deborah H. Fuller (361966)   +6 more
core   +1 more source

Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene RAD51C

, 2022
SIMPLE SUMMARY: Loss-of-function variants of the RAD51C gene are known to confer a risk of breast and ovarian cancers. In this study, we analyzed the impact of RAD51C variants on splicing, a highly regulated gene expression step by which introns are ...
Alberto Valenzuela-Palomo, Elena Bueno-Martínez, Valenzuela-Palomo, Alberto, Miguel de la Hoya, Eladio A. Velasco-Sampedro, Llinares-Burguet, Inés, Velasco-Sampedro, Eladio A, Bueno-Martínez, Elena, Inés Llinares-Burguet, Velasco, Eladio, Sanoguera-Miralles, Lara, García-Álvarez, Alicia, Alicia García-Álvarez, Velasco-Sampedro, Eladio A., Pérez-Segura, Pedro, de la Hoya, Miguel, Lara Sanoguera-Miralles, Ada Esteban-Sánchez, Pedro Pérez-Segura, Esteban-Sánchez, Ada, Hoya, Miguel de la   +20 more
core   +1 more source

Molecular analysis of eight splicing variants in the hydroxymethylbilane synthase gene

Frontiers in Genetics, 2023
Background: Molecular genetic testing is the most sensitive and specific method to confirm acute intermittent porphyria (AIP), a rare autosomal dominant disease, caused by Hydroxymethylbilane synthase (HMBS) gene mutation.
Yi Ren, Jiajia Wang, Shuang Li, Jiajia Lei, Yunfeng Liu, Yan Wang, Fei Gao, Jianhong Wang, Jianhong Yin, Jing Yang   +9 more
doaj   +1 more source

Tetracycline-inducible SOD1 minigene system.

, 2014
A) Strategy for quantification of SOD1 minigene expression by qRT/PCR. Minigene expression was distinguished from that of the endogenous SOD1 gene using forward or reverser primers homologous to pcDNA4 vector sequence. Spliced mRNA was distinguished from
Timothy A. Vickers (605766), Stanley T. Crooke (449546)   +1 more
core   +1 more source

Identification and functional characterization of de novo variant in the SYNGAP1 gene causing intellectual disability

Frontiers in Genetics, 2023
Background: Intellectual disability (ID) is defined by cognitive and social adaptation defects. Variants in the SYNGAP1 gene, which encodes the brain-specific cytoplasmic protein SYNGAP1, are commonly associated with ID.
Boxuan Li, Yu Wang, Dong Hou, Dong Hou, Zhen Song, Lihua Zhang, Na Li, Ruifang Yang, Ping Sun   +8 more
doaj   +1 more source

Minigene splicing assay of BRCA1 exon 11.

, 2012
A. The pB1 wild type (WT) version of the minigene is shown. PCMV = promoter of the pCDNA3 vector. ATG = start codon. TAG = stop codon. +3C = insertion of cytosine as the third nucleotide in exon 8. pA = poly A signal.
Michela Raponi (164344), Andrew G. L. Douglas (164348), Diana Baralle (164355), Claudia Tammaro (164350), David I. Wilson (164352)   +4 more
core   +1 more source

Activities of ASOs spanning the SOD1 minigene.

, 2014
A) SOD/TO or SOD/TO-187 cells were transfected with each of a series of 38 ASOs. Following ASO treatment, reduction of SOD1 transcript expressed from the minigene and of endogenous SOD1 was evaluated by qRT/PCR using primers and probes specific for the ...
Timothy A. Vickers (605766), Stanley T. Crooke (449546)   +1 more
core   +1 more source

Functional analysis of a novel FBN1 deep intronic variant causing Marfan syndrome in a Chinese patient

Frontiers in Genetics
Marfan syndrome (MFS MIM#154700), due to pathogenic variants in the FBN1 gene, is an autosomal dominant connective tissue disorder, typically involving the skeletal, cardiovascular and ocular systems.
Qingming Wang, Fang Zhang, Xinlong Zhou, Hui Li, Juan Zhao, Haiming Yuan   +5 more
doaj   +1 more source

A novel PKHD1 splicing variant identified in a fetus with autosomal recessive polycystic kidney disease

Frontiers in Genetics, 2023
Objective: Variants of the polycystic kidney and hepatic disease 1 (PKHD1) gene are associated with autosomal recessive polycystic kidney disease (ARPKD).
Mingzhu Miao, Liqun Feng, Jue Wang, Cheng Xu, Xiaotian Su, Guoying Zhang, Shoulian Lu   +6 more
doaj   +1 more source

RBM25 Drives Hepatocellular Carcinoma Progression by Stabilizing YAP Through Regulating Oncogenic Splicing‐switch of MYPT1

Advanced Science, EarlyView.
This study establishes that the RBM25‐PRPF40A interaction modulates MYPT1 splicing, promoting the production of the oncogenic long isoform. This isoform stabilizes YAP by suppressing its phosphorylation and subsequent proteasomal degradation, ultimately accelerating tumor growth.
Wenjing Zhang, Lili Zhi, Tian Huang, Lingya Feng, Chaoqun Chen, Huanhuan Wei, Xiaolong Liu, Lei Chen, Jinrui Zhang, Ge Zhang, Baofeng Zhao, Rong Liu, Dan Chen, Yangfan Qi, Yang Wang   +14 more
wiley   +1 more source