Results 61 to 70 of about 483,589 (358)

Histone gene replacement reveals a post-transcriptional role for H3K36 in maintaining metazoan transcriptome fidelity

eLife, 2017
Histone H3 lysine 36 methylation (H3K36me) is thought to participate in a host of co-transcriptional regulatory events. To study the function of this residue independent from the enzymes that modify it, we used a ‘histone replacement’ system in ...
Michael P Meers, Telmo Henriques, Christopher A Lavender, Daniel J McKay, Brian D Strahl, Robert J Duronio, Karen Adelman, A Gregory Matera   +7 more
doaj   +1 more source

Social context prevents heat hormetic effects against mutagens during fish development

FEBS Letters, EarlyView.
This study shows that sublethal heat stress protects fish embryos against ultraviolet radiation, a concept known as ‘hormesis’. However, chemical stress transmission between fish embryos negates this protective effect. By providing evidence for the mechanistic molecular basis of heat stress hormesis and interindividual stress communication, this study ...
Lauric Feugere, Claudio Silva De Freitas, Adam Bates, Kenneth B. Storey, Pedro Beltran‐Alvarez, Katharina C. Wollenberg Valero   +5 more
wiley   +1 more source

A dominant RAD51C pathogenic splicing variant predisposes to breast and ovarian cancer in the Newfoundland population due to founder effect

Molecular Genetics & Genomic Medicine, 2020
Background RAD51C is important in DNA repair and individuals with pathogenic RAD51C variants have increased risk of hereditary breast and ovarian cancer syndrome (HBOC), an autosomal dominant genetic predisposition to early onset breast and/or ovarian ...
Lesa M. Dawson, Kerri N. Smith, Salem Werdyani, Robyn Ndikumana, Cindy Penney, Louisa L. Wiede, Kendra L. Smith, Justin A. Pater, Andrée MacMillan, Jane Green, Sheila Drover, Terry‐Lynn Young, Darren D. O’Rielly   +12 more
doaj   +1 more source

B cell mechanobiology in health and disease: emerging techniques and insights into therapeutic responses

FEBS Letters, EarlyView.
B cells sense external mechanical forces and convert them into biochemical signals through mechanotransduction. Understanding how malignant B cells respond to physical stimuli represents a groundbreaking area of research. This review examines the key mechano‐related molecules and pathways in B lymphocytes, highlights the most relevant techniques to ...
Marta Sampietro, Marco Cellani, Cristina Scielzo   +2 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

Assessing conservation of alternative splicing with evolutionary splicing graphs [PDF]

Genome Research, 2020
Understanding how protein function has evolved and diversified is of great importance for human genetics and medicine. Here, we tackle the problem of describing the whole transcript variability observed in several species by generalizing the definition of splicing graph.
Hugues Richard, Hugues Richard, Elodie Laine, Alexis Baudin, Sofya Laskina, Diego Javier Zea   +5 more
openaire   +8 more sources

Intron‐oriented HTLV‐1 integration in an adult T‐cell leukemia/lymphoma cell line sustains expression of intact ift81 mRNA

FEBS Letters, EarlyView.
In the adult T‐cell leukemia/lymphoma (ATL) cell line ED, the human T‐cell leukemia virus type 1 (HTLV‐1) provirus was integrated into the intron of the ift81 gene in the antisense orientation. Despite this integration, both the intact ift81 and the viral oncogene hbz were simultaneously expressed, likely due to the functional insufficiency of viral ...
Mayuko Yagi, Yuka Hirosawa, Yusaku Sagisaka, Minami Hama, Satoshi Takeda, Jun A. Komano   +5 more
wiley   +1 more source

Innovating the Concept and Practice of Two-Dimensional Gel Electrophoresis in the Analysis of Proteomes at the Proteoform Level

Proteomes, 2019
Two-dimensional gel electrophoresis (2DE) is an important and well-established technical platform enabling extensive top-down proteomic analysis. However, the long-held but now largely outdated conventional concepts of 2DE have clearly impacted its ...
Xianquan Zhan, Biao Li, Xiaohan Zhan, Hartmut Schlüter, Peter R. Jungblut, Jens R. Coorssen   +5 more
doaj   +1 more source

Cyclic nucleotide signaling as a drug target in retinitis pigmentosa

FEBS Letters, EarlyView.
Disruptions in cGMP and cAMP signaling can contribute to retinal dysfunction and photoreceptor loss in retinitis pigmentosa. This perspective examines the mechanisms and evaluates emerging evidence on targeting these pathways as a potential therapeutic strategy to slow or prevent retinal degeneration.
Katri Vainionpää, Ahmed B. Montaser, Henri Leinonen   +2 more
wiley   +1 more source

Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays

Human Genomics
Background TP53 variant classification benefits from the availability of large-scale functional data for missense variants generated using cDNA-based assays.
Cristina Fortuno, Inés Llinares-Burguet, Daffodil M. Canson, Miguel de la Hoya, Elena Bueno-Martínez, Lara Sanoguera-Miralles, Sonsoles Caldes, Paul A. James, Eladio A. Velasco-Sampedro, Amanda B. Spurdle   +9 more
doaj   +1 more source