Results 71 to 80 of about 603,390 (338)

Multiple breast cancer risk variants are associated with differential transcript isoform expression in tumors. [PDF]

, 2015
Genome-wide association studies have identified over 70 single-nucleotide polymorphisms (SNPs) associated with breast cancer. A subset of these SNPs are associated with quantitative expression of nearby genes, but the functional effects of the majority ...
Brenner, Steven E, Camarda, Roman, Caswell, Jennifer L, Goga, Andrei, Hu, Donglei, Huntsman, Scott, Zaitlen, Noah, Zhou, Alicia Y, Ziv, Elad   +8 more
core   +2 more sources

RAD50 missense variants differentially affect the DNA damage response and mitotic progression

FEBS Letters, EarlyView.
RAD50 incorporates into the MRN complex and initiates the DNA damage response. Furthermore, RAD50 promotes mitotic progression. RAD50 missense variants capable of forming an MRN complex supported the DNA damage response and mitotic features to different extents in complementation experiments, indicating these functions are separable and might impact ...
Hanna Redeker, Swantje Kebel, Lea Völkening, Anna Vatselia, Louisa Weinhold, Girmay Asgedom, Axel Schambach, Detlev Schindler, Thilo Dörk, Kristine Bousset   +9 more
wiley   +1 more source

TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact

npj Genomic Medicine
We investigated the role of TP53 splicing regulatory elements (SREs) using exons 3 and 6 and their downstream introns as models. Minigene microdeletion assays revealed four SRE-rich intervals: c.573_598, c.618_641, c.653_669 and c.672+14_672 + 36.
Daffodil M. Canson, Inés Llinares-Burguet, Cristina Fortuno, Lara Sanoguera-Miralles, Elena Bueno-Martínez, Miguel de la Hoya, Amanda B. Spurdle, Eladio A. Velasco-Sampedro   +7 more
doaj   +1 more source

Identification of Novel Nexilin Splice Variants in Mouse and Human Tissues

Cells
There is no doubt that the proper development of the heart is important for its correct function, in addition, maturation processes of the heart are crucial as well.
Paul Jung, André Fiedelak, Celina Dreeßen, Otmar Huber, Juliane Reiche   +4 more
doaj   +1 more source

A conformational RNA zipper promotes intron ejection during non-conventional XBP1 mRNA splicing. [PDF]

, 2015
The kinase/endonuclease IRE1 is the most conserved signal transducer of the unfolded protein response (UPR), an intracellular signaling network that monitors and regulates the protein folding capacity of the endoplasmic reticulum (ER).
Acosta-Alvear, Diego, Mendez, Aaron S, Peschek, Jirka, Walter, Peter   +3 more
core   +1 more source

Mapping the evolution of mitochondrial complex I through structural variation

FEBS Letters, EarlyView.
Respiratory complex I (CI) is crucial for bioenergetic metabolism in many prokaryotes and eukaryotes. It is composed of a conserved set of core subunits and additional accessory subunits that vary depending on the organism. Here, we categorize CI subunits from available structures to map the evolution of CI across eukaryotes. Respiratory complex I (CI)
Dong‐Woo Shin, Tingting Chen, James A. Letts   +2 more
wiley   +1 more source

Rbm3 deficiency leads to transcriptome-wide splicing alterations

RNA Biology
Rbm3 (RNA-binding motif protein 3) is a stress responsive gene, which maintains cellular homeostasis and promotes survival upon various harmful cellular stimuli.
Steffen Erkelenz, Marta Grzonka, Antonios Papadakis, Heiner Schaal, Jan H. J. Hoeijmakers, Ákos Gyenis   +5 more
doaj   +1 more source

Case Report: Functional Investigation of an Undescribed Missense Variant Affecting Splicing in a Patient With Dravet Syndrome

Frontiers in Neurology, 2021
Pathogenic variants in the SCN1A gene are associated with a spectrum of epileptic disorders ranging in severity from familial febrile seizures to Dravet syndrome.
Peter Sparber, Svetlana Mikhaylova, Varvara Galkina, Yulia Itkis, Mikhail Skoblov   +4 more
doaj   +1 more source

De novo prediction of PTBP1 binding and splicing targets reveals unexpected features of its RNA recognition and function. [PDF]

, 2014
The splicing regulator Polypyrimidine Tract Binding Protein (PTBP1) has four RNA binding domains that each binds a short pyrimidine element, allowing recognition of diverse pyrimidine-rich sequences.
Black, Douglas L, Fu, Xiang-Dong, Han, Areum, Linares, Anthony J, Stoilov, Peter, Zhou, Yu   +5 more
core   +4 more sources

Organoids in pediatric cancer research

FEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source