Results 241 to 250 of about 395,522 (295)

<i>BRCA2</i> Pre-mRNA Differential 5' Splicing: A Rescue of Functional Protein Properties from Pathogenic Gene Variants and a Lifeline for Fanconi Anemia D1 Patients. [PDF]

Int J Mol Sci
Paredes R, Batta K, Wiseman DH, Gothbi R, Dalal V, Schmidt CK, Kalb R, Meyer S, Schindler D.   +8 more
europepmc   +1 more source

Pyruvate Dehydrogenase Deficiency Due to Two Single Base-Pair Substitutions in Exons 5 and 6 of the .ALPHA. Subunit Gene of the Pyruvate Dehydrogenase.

, 1992
Kichiko Koike, Yoshishige Urata, Shinji Goto, Masafumi Matsuo   +3 more
openalex   +2 more sources

Splicing Shift of RAC1 Accelerates Tumorigenesis and Defines a Potent Therapeutic Target in Lung Cancer

Advanced Science, EarlyView.
Dysregulated RNA splicing is an underappreciated molecular feature of cancer. By integrating murine and cellular models with patient specimens of lung adenocarcinoma, this study demonstrates that RAC1B, rather than RAC1A isoform, promotes tumorigenesis and presents a potent therapeutic target for lung cancer. Mechanistically, RAC1B preferentially binds
Yueren Yan, Ning Wang, Bowen Xing, Min Yang, Jun Shang, Yufang Bao, Lixing Xiao, Ningxia Zhang, Yunpeng Ren, Chunnan Liu, Yuting Chen, Han Han, Yunjian Pan, Lei Lv, Wei‐Xing Zong, Hongbin Ji, Changyou Zhan, Zefeng Wang, Haiquan Chen, Yongbo Wang   +19 more
wiley   +1 more source

The Exon Theory of Genes

Cold Spring Harbor Symposia on Quantitative Biology, 1987
openaire   +2 more sources

Two novel cases with PIGQ-CDG: expansion of the genotype-phenotype spectrum and evaluation of GestaltMatcher as a diagnostic tool. [PDF]

Front Genet
Kušíková K, Hsieh TC, Pfeifer M, Fauth C, Murakami Y, Laccone F, Karall D, Bonfig W, Stewart H, Weis D.   +9 more
europepmc   +1 more source

SUMOylation is a Translatable Target in Hypoxic MNPs Regulating Retinal Vasculopathy

Advanced Science, EarlyView.
During ischemic retinopathy/retinal vasculopathy, UBC9‐mediated SUMOylation in retinal macrophages enhances their pro‐angiogenic capacity via hypoxia‐induced SUMOylation of FUS at K327/K502. This modification suppresses FUS binding to the Vegfa mRNA 3’UTR, stabilizing transcripts and facilitating VEGFA production. Targeting UBC9 inhibition can serve as
Zheng Zhong, Guangyu Liang, Huimin Yu, Jiaqi Li, Ruohong Wang, Xiaohong Ma, Ziqing Zhou, Yin Zhao, Fei Sun, Xufang Sun   +9 more
wiley   +1 more source

Molecular Genetic Analysis of a <i>DMD</i> Frameshift Mutation in a Boy with Duchenne Muscular Dystrophy by MLPA and Sanger Sequencing. [PDF]

Pharmgenomics Pers Med
Chen Q, Zhang W, Zha L.
europepmc   +1 more source

RelA Inhibits Embryonic Myogenesis by Coordinately Regulating a Novel Distal Enhancer of Myogenin

Advanced Science, EarlyView.
Maternal obesity (MO) accounts for more than 40% of pregnancies in the United States, induces inflammation, and impairs embryonic myogenesis, known to program muscle dysfunction in offspring. Inflammation enhances the binding of RelA to a novel distal enhancer located 4 kb upstream of myogenin promoter to inhibit embryonic myogenesis, which is ...
Md Nazmul Hossain, Yao Gao, Sharmeen Islam, Li‐Wei Chen, Xinrui Li, Zhongyun Kou, Nathan C Law, Jeanene Marie de Avila, Mei‐Jun Zhu, Min Du   +9 more
wiley   +1 more source

Novel causative <i>RYR2</i> indel variant with exon and intron involvement inducing exon 13 skipping in a family exhibiting catecholaminergic polymorphic ventricular tachycardia. [PDF]

Front Genet
Shin JH, Park TK, Chang SA, Jang SY, Huh J, Seol CA, Park KJ, Kim SH, Kim DK, Gwag HB, Jang MA.   +10 more
europepmc   +1 more source

U1 snRNP targets an essential splicing factor, U2AF65, to the 3' splice site by a network of interactions spanning the exon.

, 1992
Bryan E. Hoffman, Paula J. Grabowski
openalex   +1 more source