Results 191 to 200 of about 65,308 (255)

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

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

Rapid Access to Photoswitchable RNA Binders: Fluorination Enhances Protein Rescue by Exon Inclusion

Chemistry – A European Journal, EarlyView.
An adaptable approach, many light‐switchable RNA binders. We report a versatile strategy for rapidly synthesizing photoswitchable RNA binders. The ligands can target SMN2 pre‐mRNA, restoring the levels of the corresponding protein by exon‐inclusion rescue.
Lei Zhang, Nemanja Djokovic, Alexander Herr, Anna Wacker, Emily Swanson Hay, Daniel Santana, Amanda E. Hargrove, Harald Schwalbe, Katarina Nikolic, Frank Abendroth, Olalla Vázquez   +10 more
wiley   +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

The Influence of Drosophila Spire and Myosin V During Mid‐Oogenesis Is Independent of Their Direct Interaction

Cytoskeleton, EarlyView.
ABSTRACT Cooperativity between cytoskeletal proteins is crucial for spatiotemporal coordination in biological processes, like oogenesis. In mammalian and Drosophila oogenesis, proper assembly and function of actin networks require coordination between actin assembly factors Spire and formins, as well as actin‐associated proteins like myosins and Rab ...
Joseph Y. Ong, Hannah M. Bailey, Emma Carley, Michelle Panzica, Merin Rixen, Neil Billington, Rong Liu, Margot E. Quinlan   +7 more
wiley   +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

Cytoskeleton–Membrane Uncoupling in Duchenne Muscular Dystrophy: Implications for Newborn Screening and Early Protection

Cytoskeleton, EarlyView.
ABSTRACT The cytoskeleton of striated muscle integrates force transmission, mechanotransduction, and sarcolemmal stability through coordinated networks of sarcomeres, costameres, and intermediate filaments. Together, these systems establish mechanical continuity between the contractile apparatus, the sarcolemma, and the extracellular matrix.
Houda Cohen, Nora Hosny, Brian R. Thompson, Joseph M. Metzger   +3 more
wiley   +1 more source

Aberrant splicing caused by a novel KMT2A variant in Wiedemann-Steiner syndrome. [PDF]

Mol Genet Genomic Med
Niu J, Teng X, Zhang J.
europepmc   +1 more source

Identification of a Functional CYP2C8 Variant Allele that Alters Splicing, Reduces Protein Expression, and Increases Drug Exposure

Clinical Pharmacology &Therapeutics, EarlyView.
This study investigated genetic determinants of the pharmacokinetics of the CYP2C8 index drugs repaglinide and gemfibrozil, and their interaction in healthy participants. Sequencing data from a study with montelukast revealed a novel functional CYP2C8 allele (rs2071426, CYP2C8*19), predicted to create an intronic splice donor site.
Anssi J. H. Mykkänen, Päivi Hirvensalo, Kathrin Klein, Dorota Kaminska, Markus Grube, Tuija Tapaninen, Johanna I. Kiiski, Mikko Neuvonen, Ville T. Männistö, Jussi Pihlajamäki, Mladen Tzvetkov, Matthias Schwab, Aleksi Tornio, Janne T. Backman, Mikko Niemi   +14 more
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