Results 111 to 120 of about 205,219 (310)

The PSI-U1 snRNP interaction regulates male mating behavior in Drosophila

open access: yes, 2016
Alternative pre-mRNA splicing (AS) is a critical regulatory mechanism that operates extensively in the nervous system to produce diverse protein isoforms.
Hilgers, V.   +5 more
core   +1 more source

Pathogenesis of proximal autosomal recessive spinal muscular atrophy [PDF]

open access: yes, 2008
Although it is known that deletions or mutations of the SMN1 gene on chromosome 5 cause decreased levels of the SMN protein in subjects with proximal autosomal recessive spinal muscular atrophy (SMA), the exact sequence of pathological events leading to ...
Šimić, Goran
core   +1 more source

ELABELA Targets Mitochondria to Modulate Heart Development

open access: yesAdvanced Science, EarlyView.
The role of peptide ELABELA (ELA) in cardiomyocyte apoptosis and congenital heart disease (CHD) is unclear. ELA deficiency caused cardiomyocyte apoptosis and CHD. A novel ELA‐APJ‐AKT‐BCL2/BAX axis in regulating mitochondrial function and contributing to CHD pathogenesis was established.
Jian Wang   +22 more
wiley   +1 more source

evolution, structure and function of metazoan splicing factor PRPF39 [PDF]

open access: yes, 2019
In the yeast U1 snRNP the Prp39/Prp42 heterodimer is essential for early steps of spliceosome assembly. In metazoans no Prp42 ortholog exists, raising the question how the heterodimer is functionally substituted.
Bortoli, Francesca De   +7 more
core   +1 more source

TRMT6‐Mediated m1A Modification of CDK9 mRNA Is a Dual‐Pronged Pathogenic Driver for HBV‐Related Hepatocellular Carcinoma

open access: yesAdvanced Science, EarlyView.
TRMT6‐mediated m1A modification in CDK9 mRNA enhances its mRNA stability and translation efficiency, thereby increasing the protein levels of CDK9. Upregulated CDK9 promotes the progression of HCC by elevating the levels of oncogenic factors including p‐STAT3, MCL1, and BCL‐2. On the other hand, CDK9 phosphorylates TARDBP at Ser254 to activate HBV core
Rui Zhang   +12 more
wiley   +1 more source

Pre-mRNA Splicing [PDF]

open access: yesMolecular Cell, 2003
Jurica, Melissa S., Moore, Melissa J.
openaire   +1 more source

Unraveling the Molecular Mechanisms Underlying Spontaneous Multipolar Mitosis Through CIN‐seq

open access: yesAdvanced Science, EarlyView.
Multipolar mitosis, a hallmark of chromosomal instability (CIN), drives tumor heterogeneity but is challenging to study in live cells. Using CIN‐seq, a single‐cell multiomics method, we profiled rare CIN events and identified mechanisms associated with viable multipolar mitosis, including PTEN attenuation, Rho GTPase‐driven cytokinesis failure, and ...
Pin‐Rui Su   +10 more
wiley   +1 more source

Three exonic variants in the PHEX gene cause aberrant splicing in a minigene assay

open access: yesFrontiers in Genetics
Background: X-linked hypophosphatemia (XLH, OMIM 307800) is a rare phosphorus metabolism disorder caused by PHEX gene variants. Many variants simply classified as missense or nonsense variants were only analyzed at the DNA level.
Fengjiao Pan   +14 more
doaj   +1 more source

Analysis of in situ pre-mRNA targets of human splicing factor SF1 reveals a function in alternative splicing [PDF]

open access: yes, 2017
The conserved pre-mRNA splicing factor SF1 is implicated in 3′ splice site recognition by binding directly to the intron branch site. However, because SF1 is not essential for constitutive splicing, its role in pre-mRNA processing has remained mysterious.
Antih, Nicolas   +4 more
core  

Conformable Microelectrode Arrays Integrated with a Scoop‐Shaped Slide‐Well for Dynamic Electrophysiological Profiling of Patient‐Derived Cardiac Organoids

open access: yesAdvanced Science, EarlyView.
A flexible, ultrathin multi‐channel microelectrode array (MEA) conformally integrated onto a curved slide‐well enables stable electrical interfacing with 3D cardiac organoids. The geometry‐guided self‐alignment allows simultaneous recording of extracellular field potentials and contractile motion from irregular, beating tissues.
Ye Seul Kim   +12 more
wiley   +1 more source

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