Results 231 to 240 of about 64,155 (301)

A Systematic Identification of RNA-Binding Proteins (RBPs) Driving Aberrant Splicing in Cancer. [PDF]

Biomedicines
Lobato-Fernandez C, Gimeno M, San Martín A, Anorbe A, Rubio A, Ferrer-Bonsoms JA.   +5 more
europepmc   +1 more source

Neurofibromin 1 (NF1) Splicing Mutation c.61-2A>G: From Aberrant mRNA Processing to Therapeutic Implications In Silico [PDF]

Jaesuk Lee, Hojun Lee, Kyungwhan An, Sungwon Jeon, Jaesuk Lee, Delger Bayarsaikhan, Jungeun Kim, Sangsoo Park, J. Cho, Sun Ah Baek, Gabin Byun, Lee Bong-Hee, Jong Bhak   +12 more
openalex   +1 more source

Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing. [PDF]

JIMD Rep
Cassini T, Silverstein S, Behan M, Tifft CJ, Malicdan MC, Adams DR, Undiagnosed Diseases Network, Ahn SY, Regier DS.   +8 more
europepmc   +1 more source

A novel intronic mutation in SHOX causes short stature by disrupting a splice acceptor site: direct demonstration of aberrant splicing by expression of a minigene in HEK-293T cells

, 2012
Jennifer A. Danzig, Michael A. Levine
openalex   +2 more sources

Rescue of Aberrant Splicing Caused by a Novel Complex Deep-intronic <i>ABCA4</i> Allele. [PDF]

Genes (Basel)
Maggi J, Feil S, Gloggnitzer J, Maggi K, Hanson JVM, Koller S, Gerth-Kahlert C, Berger W.   +7 more
europepmc   +1 more source

Aberrant splicing prediction during human organ development

Wagner N, Neverov AM, Martin-Geary AC, Londhe S, Schröder C, Yépez VA, Whiffin N, Gagneur J.   +7 more
europepmc   +1 more source

Aberrant Splicing in PKD2 in a Family of Korean Patients With Autosomal Dominant Polycystic Kidney Disease. [PDF]

Ann Lab Med
Yoon SY, Kim JS, Park KS.
europepmc   +1 more source

Hierarchical Complementary Enhanced Autoencoder Integrating Spatio‐Temporal Interaction Feature for Soft Sensor

Asia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT To address the issues of neglecting the spatiotemporal correlations among process variables, low‐level features are vulnerable to noise interference, and the gradual loss of key information layer by layer during deep network training in traditional stacked autoencoder‐based soft‐sensor models, this paper proposes a hierarchical complementary ...
Xiaoping Guo, Jinghong Guo, Yuan Li
wiley   +1 more source

A novel missense mutation in ISCA2 causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4. [PDF]

Front Psychiatry
Al-Hassnan Z, AlDosary M, AlHargan A, AlQudairy H, Almass R, Alahmadi KO, AlShahrani S, AlBakheet A, Almuhaizea MA, Taylor RW, Colak D, Kaya N.   +11 more
europepmc   +1 more source

Dysregulation of U12‐Type Splicing in Lupus Neutrophils

Arthritis &Rheumatology, EarlyView.
Objective Neutrophil dysfunction is a hallmark of systemic lupus erythematosus (SLE), but its molecular basis remains unclear. This study explores transcriptional and posttranscriptional changes in low‐density granulocytes (LDGs), a proinflammatory neutrophil subset expanded in SLE, focusing on NADPH oxidase (Nox) function and minor intron splicing ...
Luz P. Blanco, Binod Regmi, Carmelo Carmona‐Rivera, Yudong Liu, Xiantao Wang, Philip M. Carlucci, Monica M. Jackson, Zerai Manna, Sarfaraz Hasni, Markus Hafner, Hong‐Wei Sun, Mariana J. Kaplan   +11 more
wiley   +1 more source