Results 291 to 300 of about 325,490 (342)

KDM3A and KDM3B regulate alternative splicing in mouse pluripotent stem cells. [PDF]

iScience
Dillingham CM, Cormaty H, Morgan EC, Tak AI, Esgdaille DE, Boutz PL, Sridharan R.   +6 more
europepmc   +1 more source

Longitudinal Analysis of Neuroradiological Biomarkers for Fragile X‐Associated Tremor/Ataxia Syndrome and Implications for Clinical Trials

Annals of Neurology, EarlyView.
Objective The objective of this study was to show the capacity of structural brain magnetic resonance imaging (MRI) measures to serve as monitoring biomarkers for Fragile X‐Associated Tremor/Ataxia Syndrome (FXTAS). Methods From 2 longitudinal studies of male FMR1 premutation carriers, 2 brain MRI scans were selected from each participant, collected ...
David Hessl, Jun Yi Wang, Glenda Espinal, Ellery Santos, Flora Tassone, Randi J. Hagerman, Susan M. Rivera   +6 more
wiley   +1 more source

The Role of Alternative Splicing in Marine-Freshwater Divergence in Threespine Stickleback. [PDF]

Genome Biol Evol
Rodríguez-Ramírez CE, Peichel CL.
europepmc   +1 more source

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, EarlyView.
Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source

STAU1 exhibits oncogenic characteristics and modulates alternative splicing and gene expression in lung adenocarcinoma cells. [PDF]

Sci Rep
Zhang L, Peng Z, Ding W, Wu H, Guo R, Li D, Niu L, Wei X.   +7 more
europepmc   +1 more source

Aberrant Splicing as a Mechanism for Resistance to Cancer Therapies. [PDF]

Cancers (Basel)
Duzgun D, Oltean S.
europepmc   +1 more source

A Novel Synonymous Variant of PAX2 in Monochorionic Diamniotic Twins With Bilateral Renal Agenesis: A Case Report and Literature Review. [PDF]

Mol Genet Genomic Med
Yao W, Xu B, Wang H, Liu S, Wang H, Mai J, Wang X, Chen X, Zhang Z.   +8 more
europepmc   +1 more source

A multi-omics prognostic model of cuproptosis affects the prognosis of stomach adenocarcinoma. [PDF]

Clin Epigenetics
Wu Y, Fan Y, Dong X, Dong D, Shi Y, Wang M, Wang J, Yang Y, Yang N, Ou F, Li E.   +10 more
europepmc   +1 more source

Intrinsic <i>Alu</i> affects for RNA splicing in a minigene model. [PDF]

Biochem Biophys Rep
Nakama M, Imanaka B, Kimoto Y.
europepmc   +1 more source