Results 81 to 90 of about 408,908 (290)

A database of orthologous exons in primates for comparative analysis of RNA-seq data [PDF]

, 2012
RNA-seq technology facilitates the study of gene expression at the level of individual exons and transcripts. Moreover, RNA-seq enables unbiased comparative analysis of expression levels across species.
Ran Blekhman
core   +1 more source

Saturation mutagenesis reveals manifold determinants of exon definition. [PDF]

, 2017
To illuminate the extent and roles of exonic sequences in the splicing of human RNA transcripts, we conducted saturation mutagenesis of a 51-nt internal exon in a three-exon minigene.
Anquetil, Vincent, Arias, Mauricio A., Chasin, Lawrence A., Ju, Jingyue, Kalachikov, Sergey, Ke, Shengdong, Maity, Alisha, Russo, James J, Yang, Anthony, Zamalloa, Jorge Rojas   +9 more
core   +2 more sources

Interrogating the immune landscape of microsatellite stable RAS‐mutated colon cancer

Molecular Oncology, EarlyView.
COLOSSUS project RAS‐mutated MSS colon cancer study explored transcriptomics and immune cell density by immunohistochemistry (IHC), Immunoscore (IS), ISIC/TuLIS scores, mutation counts, and detected different prevalences but similar microenvironment composition across immune markers with clinical relevance for future immunotherapy combination ...
Rodrigo Dienstmann, Eduardo García‐Galea, Alice O'Farrell, Zak Kinsella, Maxime Meylan, Florent Petitprez, Ingrid Arijs, Tom Venken, Hari Ps, Adrian Lärkeryd, Ian Miller, Janick Selves, Nadja Meindl‐Beinker, Fiorella Ruiz‐Pace, Elena Élez, Raquel Comas‐Navarro, Frank Lincoln, Dirk Fey, Gift Nyamundanda, Aoife Nolan, Joern Lewin, Raquel Perez‐Lopez, Jonathan Briody, Kathleen Bennett, Walter Kolch, David Matallanas, Alexander Kel, Enrique Arenas, Joaquín Arribas, Bart Ghesquière, Josep Tabernero, Julie Meilleroux, Deborah McNamara, Ray McDermott, Marvin Lim, Mary O'Reilly, Brian Bird, Lisa Stack, Lucia Moloney, Patrick Morris, Keith Egan, Maciej Milewski, Lars Scheuer, Joachim Behringer, Georg Bolz, Ramon Salazar, Cristina Santos, Andrea Ruiz, Orla Casey, Verena Murphy, Matthias Ebert, Livio Trusolino, Diether Lambrechts, Anguraj Sadanandam, Catherine Sautès‐Fridman, Jochen Prehn, Paolo Nuciforo, Jacques Fieschi, Florence Monville, Darran O'Connor, Wolf Fridman, Annette Byrne   +61 more
wiley   +1 more source

A spotter’s guide to SNPtic exons: The common splice variants underlying some SNP–phenotype correlations

Molecular Genetics & Genomic Medicine, 2022
Background Cryptic exons are typically characterised as deleterious splicing aberrations caused by deep intronic mutations. However, low‐level splicing of cryptic exons is sometimes observed in the absence of any pathogenic mutation.
Niall Patrick Keegan, Sue Fletcher
doaj   +1 more source

An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed [PDF]

, 2016
Sensory neuropathy in the Border Collie is a severe neurological disorder caused by the degeneration of sensory and, to a lesser extent, motor nerve cells with clinical signs starting between 2 and 7 months of age.
Beltran, E, De Risio, L, Forman, O P, Gutierrez-Quintana, R, Hitti, R J, Jenkins, C A, Mellersh, C, O'Brien, D P, Pettitt, L, Shelton, G D   +9 more
core   +4 more sources

Fetal Brain Tumor Harboring a Unique ROCK1::BRAF Fusion

Pediatric Blood &Cancer, EarlyView.
Marllon Cindra Sant'Ana, Mariana Maschietto, Daniela Paz Leal, Ricardo de Santos de Oliveira, Mayara Ferreira Euzébio, Antonio Carlos dos Santos, Luciano Neder, Carlos Alberto Scrideli, Elvis Terci Valera   +8 more
wiley   +1 more source

Keratin 19 as a prognostic marker and contributing factor of metastasis and chemoresistance in high‐grade serous ovarian cancer

Molecular Oncology, EarlyView.
Keratin 19 (KRT19) is overexpressed in high‐grade serous ovarian cancer with high levels of Kallikrein‐related peptidases (KLK) 4–7 and is associated with poor survival. In vivo analyses demonstrate that elevated KRT19 increases peritoneal tumour burden.
Sophia Bielesch, Isabel Vogel, Sina Nokodian, Johanna Moeller, Antonia Blechschmidt, Vicky Hecht, Vanessa Kuentzel, Katharina Thiedig, Melissa Schwab, Oliver Schilling, Holger Bronger, Marion Kiechle, Viktor Magdolen, Tobias Dreyer   +13 more
wiley   +1 more source

Predicting mutually exclusive spliced exons based on exon length, splice site and reading frame conservation, and exon sequence homology

BMC Bioinformatics, 2011
Background Alternative splicing of pre-mature RNA is an important process eukaryotes utilize to increase their repertoire of different protein products.
Hammesfahr Björn, Odronitz Florian, Hatje Klas, Pillmann Holger, Kollmar Martin   +4 more
doaj   +1 more source

Mutation Screening of Six Exons of ABCA4 in Iranian Stargardt Disease Patients

Journal of Ophthalmic & Vision Research, 2022
Purpose: Stargardt disease type 1 (STGD1) is a recessively inherited retinal disorder that can cause severe visual impairment. ABCA4 mutations are the usual cause of STGD1.
Ensieh Darbari, Hamid Ahmadieh, Narsis Daftarian, Mozhgan Rezaei Kanavi, Fatemeh Suri, Hamideh Sabbaghi, Elahe Elahi   +6 more
doaj   +1 more source

Somatic mutational landscape in von Hippel–Lindau familial hemangioblastoma

Molecular Oncology, EarlyView.
The causes of central nervous system (CNS) hemangioblastoma in Von Hippel–Lindau (vHL) disease are unclear. We used Whole Exome Sequencing (WES) on familial hemangioblastoma to investigate events that underlie tumor development. Our findings suggest that VHL loss creates a permissive environment for tumor formation, while additional alterations ...
Maja Dembic, Anne Nørremølle, Lilian Bomme Ousager, Lars van Brakel Andersen, Marie Louise Mølgaard Binderup, Mads Thomassen   +5 more
wiley   +1 more source