Results 251 to 260 of about 1,023,640 (307)

The efficacy of longevity interventions in Caenorhabditis elegans is determined by the early life activity of RNA splicing factors. [PDF]

PLoS Biol
Dutta S, Perez Matos MC, Heintz C, Mutlu AS, Piper M, Mistry M, Sharma A, Morrow CS, Smith H, Howell P, Sehgal R, Lanjuin A, Wang MC, Mair WB.   +13 more
europepmc   +1 more source

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun, Zhifeng Zhu, Fengye Zhou, Ying Liu, Chunfang Liang, Haitao Ju, Lin Lu, Zhaoli Yan   +7 more
wiley   +1 more source

A deep dive into statistical modeling of RNA splicing QTLs reveals variants that explain neurodegenerative disease. [PDF]

Am J Hum Genet
Wang D, Gazzara MR, Jewell S, Wales-McGrath BD, Yang K, Brown CD, Choi PS, Barash Y.   +7 more
europepmc   +1 more source

<i>FIR/PUF60</i>: Multifunctional Molecule Through RNA Splicing for Revealing the Novel Disease Mechanism and Effective Individualized Therapies. [PDF]

Int J Mol Sci
Matsushita K, Kitamura K, Tanaka N, Kobayashi S, Suenaga Y, Hoshino T.   +5 more
europepmc   +1 more source

AB-Free Kava and Dihydromethysticin Inhibit Chronic Hexavalent Chromium Exposure-Induced Cell Malignant Transformation through Down-Regulating RNA Splicing Factor SNRPA1 Expression. [PDF]

Chem Res Toxicol
Li E, Bian T, Finkelberrg M, Liu Z, Bi Z, Carlson D, Xing C, Yang C, Wang Z.   +8 more
europepmc   +1 more source

Correction to "Alternative RNA Splicing of the GIT1 Gene Is Associated With Neuroendocrine Prostate Cancer". [PDF]

Cancer Sci
europepmc   +1 more source

The AMPK-related kinase NUAK1 regulates neuronal morphogenesis through the RNA splicing co-factor SON

Kerkhofs M, Meyer-Dilhet G, Polvèche H, Yandiev S, Tait-Mulder J, Lilla S, Sumpton D, Murphy DJ, Ahn EE, Bourgeois CF, Goillot E, Courchet J.   +11 more
europepmc   +1 more source

Pervasive RNA splicing in a plant DNA virus

Pott DM, Gao M, Shi C, Wang L, Medina-Puche L, Yagci Z, Acatay SA, Hohenstein L, Zhang J, Gonzalo L, Merchante C, Gu L, Lozano-Durán R.   +12 more
europepmc   +1 more source

RNA mis-splicing in disease [PDF]

Nature Reviews Genetics, 2015
The human transcriptome is composed of a vast RNA population that undergoes further diversification by splicing. Detecting specific splice sites in this large sequence pool is the responsibility of the major and minor spliceosomes in collaboration with numerous splicing factors.
Maurice S. Swanson
exaly   +3 more sources