Results 101 to 110 of about 154,659 (331)

Germline variants in CDKN2A wild‐type melanoma prone families

Molecular Oncology, EarlyView.
Among melanoma‐prone families, wild‐type for CDKN2A and CDK4, some have pathogenic variants in genes not usually linked to melanoma. Furthermore, rare XP‐related variants and variants in MC1R are enriched in such families. Germline pathogenic variants in CDKN2A are well established as an underlying cause of familial malignant melanoma. While pathogenic
Gjertrud T. Iversen, Marie Loeng, Amalie Lund Holth, Per E. Lønning, Jürgen Geisler, Stian Knappskog   +5 more
wiley   +1 more source

Improving spliced alignment for identification of ortholog groups and multiple CDS alignment [PDF]

arXiv, 2017
The Spliced Alignment Problem (SAP) that consists in finding an optimal semi-global alignment of a spliced RNA sequence on an unspliced genomic sequence has been largely considered for the prediction and the annotation of gene structures in genomes.
arxiv  

Understanding splicing regulation through RNA splicing maps [PDF]

Trends in Genetics, 2011
Alternative splicing is a highly regulated process that greatly increases the proteome diversity and plays an important role in cellular differentiation and disease. Interactions between RNA-binding proteins (RBPs) and pre-mRNA are the principle regulator of splicing decisions.
Joshua T. Witten, Jernej Ule
openaire   +2 more sources

Targeting the AKT/mTOR pathway attenuates the metastatic potential of colorectal carcinoma circulating tumor cells in a murine xenotransplantation model

Molecular Oncology, EarlyView.
Dual targeting of AKT and mTOR using MK2206 and RAD001 reduces tumor burden in an intracardiac colon cancer circulating tumor cell xenotransplantation model. Analysis of AKT isoform‐specific knockdowns in CTC‐MCC‐41 reveals differentially regulated proteins and phospho‐proteins by liquid chromatography coupled mass spectrometry. Circulating tumor cells
Daniel J. Smit, Thais Pereira‐Veiga, Helena Brauer, Michael Horn, Paula Nissen, Thomas Mair, Bente Siebels, Hannah Voß, Ruimeng Zhuang, Marie‐Therese Haider, Desiree Loreth, Margarita Iskhakova, Bele Lindemann, Julian Kött, Laure Cayrefourcq, Jasmin Wellbrock, Hartmut Schlüter, Klaus Pantel, Catherine Alix‐Panabières, Manfred Jücker   +19 more
wiley   +1 more source

Intronic Alus Influence Alternative Splicing [PDF]

PLoS Genet 2008 4(9): e1000204, 2008
Examination of the human transcriptome reveals higher levels of RNA editing than in any other organism tested to date. This is indicative of extensive double-stranded RNA (dsRNA) formation within the human transcriptome. Most of the editing sites are located in the primate-specific retrotransposed element called Alu.
arxiv  

Steric antisense inhibition of AMPA receptor Q/R editing reveals tight coupling to intronic editing sites and splicing [PDF]

, 2012
Adenosine-to-Inosine (A-to-I) RNA editing is a post-transcriptional mechanism, evolved to diversify the transcriptome in metazoa. In addition to wide-spread editing in non-coding regions protein recoding by RNA editing allows for fine tuning of protein ...
Ales Balik, Altschul, Andrew C. Penn, Arzumanov, Arzumanov, Balik, Bass, Birney, Brusa, Carver, Daniel, Darty, Dominski, Egebjerg, Eisen, Enstero, Feldmeyer, Gallo, Ge, Greger, Hamada, Heasman, Higuchi, Higuchi, Hogg, Ingo H. Greger, Jepson, Jubin, Katoh, Kent, Kwak, Laurencikiene, Maas, Moulton, Peng, Reenan, Rice, Rosenthal, Rueter, Ryman, Schoft, Sommer, Stephens, Summerton, Summerton, Summerton, Tariq, Traynelis, Valente, Venkatesh, Yamashita, Yang   +51 more
core   +1 more source

Inhibitor of DNA binding‐1 is a key regulator of cancer cell vasculogenic mimicry

Molecular Oncology, EarlyView.
Elevated expression of transcriptional regulator inhibitor of DNA binding 1 (ID1) promoted cancer cell‐mediated vasculogenic mimicry (VM) through regulation of pro‐angiogenic and pro‐cancerous genes (e.g. VE‐cadherin (CDH5), TIE2, MMP9, DKK1). Higher ID1 expression also increased metastases to the lung and the liver.
Emma J. Thompson, Emma L. Dorward, Kristyn Jurrius, Nathalie Nataren, Markus Tondl, Kay K. Myo Min, Michaelia P. Cockshell, Anahita Fouladzadeh, John Toubia, Mark DeNichilo, Delphine Merino, Claudine S. Bonder   +11 more
wiley   +1 more source

Compound Heterozygous ALDH7A1 Mutation Causes the Hemi-Allelic Expression in a Patient with Pyridoxine-Dependent Epilepsy

Tokyo Women's Medical University Journal, 2019
Pyridoxine-dependent epilepsy (PDE) is an inherited disease with an autosomal recessive trait caused by deficiency of α-amino-adipic semialdehyde (AASA) dehydrogenase encoded by the ALDH7A1 gene.
Tomoe Yanagishita, Keiko Yamamoto-Shimojima, Takayoshi Koike, Hirosato Nasu, Yukitoshi Takahashi, Tomoyuki Akiyama, Satoru Nagata, Toshiyuki Yamamoto   +7 more
doaj   +1 more source

Principles and correction of 5’-splice site selection

RNA Biology, 2022
In Eukarya, immature mRNA transcripts (pre-mRNA) often contain coding sequences, or exons, interleaved by non-coding sequences, or introns. Introns are removed upon splicing, and further regulation of the retained exons leads to alternatively spliced ...
Florian Malard, Cameron D Mackereth, Sébastien Campagne   +2 more
doaj   +1 more source

A splicing-dependent transcriptional checkpoint associated with prespliceosome formation [PDF]

, 2014
There is good evidence for functional interactions between splicing and transcription in eukaryotes, but how and why these processes are coupled remain unknown.
Ahn, Aitken, Alexander, Alexander, Batsché, Bentley, Buratowski, Carrillo Oesterreich, Chapman, Chen, Cho, Cordin, Cramer, Damgaard, Das, David, de Almeida, Dönmez, Edgar, Egloff, Fong, Furger, Görnemann, Hirose, J. David Barrass, Jean D. Beggs, Ji, Kameoka, Keerthi T. Chathoth, Komarnitsky, Kornblihtt, Kornblihtt, Kosowski, Lacadie, Levine, Li, Lin, McCracken, McKay, Miller, Moore, Orphanides, Perriman, Perriman, Perriman, Perriman, Pleiss, Ruby, Schmidt, Schneider, Schroeder, Shao, Shaun Webb, Singh, Tardiff, Wahl, Wells, Witten, Xu, Xu, Yan, Zavanelli, Zhou   +62 more
core   +1 more source