Results 91 to 100 of about 586,929 (366)

Universal power law behaviors in genomic sequences and evolutionary models

, 2007
We study the length distribution of a particular class of DNA sequences known as 5'UTR exons. These exons belong to the messanger RNA of protein coding genes, but they are not coding (they are located upstream of the coding portion of the mRNA) and are ...
Loredana Martignetti, Michele Caselle, R. Durbin   +2 more
core   +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

Cis‐regulatory and long noncoding RNA alterations in breast cancer – current insights, biomarker utility, and the critical need for functional validation

Molecular Oncology, EarlyView.
The noncoding region of the genome plays a key role in regulating gene expression, and mutations within these regions are capable of altering it. Researchers have identified multiple functional noncoding mutations associated with increased cancer risk in the genome of breast cancer patients.
Arnau Cuy Saqués, Aracele Martinez‐Mendez, John Crown, Alex Eustace   +3 more
wiley   +1 more source

Large introns in relation to alternative splicing and gene evolution: a case study of Drosophila bruno-3 [PDF]

, 2009
Background: Alternative splicing (AS) of maturing mRNA can generate structurally and functionally distinct transcripts from the same gene. Recent bioinformatic analyses of available genome databases inferred a positive correlation between intron length ...
A Marchler-Bauer, A Mortazavi, A Nekrutenko, A Rambaut, A Resch, AA Patel, AB Carvalho, AE Vinogradov, AG Clark, AM McGuire, AN Ladd, AR Hatton, AS Chang, AV Alekseyenko, AV Philips, B Budagyan, B Modrek, B Modrek, B Prud'homme, BR Graveley, BR Graveley, BR Graveley, C Lee, C Notredame, CI Castillo-Davis, CL Fitzpatrick, CS Thummel, D Babushok, D Baek, D Gatfield, D Monroe, D Ortíz-Barrientos, DA Petrov, DA Petrov, DG Gilbert, DI Nurminsky, DJ Kenan, DL Black, DL Swofford, E Betran, E Kim, E Kim, E Wagner, EA Glazov, F-C Chen, FA Kondrashov, G Ast, G Lev-Maor, G Marais, GD Schuler, H Itoh, IA Swinburne, International Human Genome Sequencing Consortium, J Delaunay, J Felsenstein, J Rozas, JM Burnette, JM Comeron, JM Johnson, K Tamura, KL Fox-Walsh, KM Neugebauer, LF Lareau, M Clamp, M Guo, M Labrador, M Lynch, M Roy, M Talerico, MA Noor, MD Adams, MD Adams, MF Wilkinson, Mohamed AF Noor, MT Levine, Nikolai P Kandul, NJ Proudfoot, NM Kopelman, P Haddrill, PA Sharp, PJ Good, PM O'Grady, Q Pan, R Sorek, R Sorek, R Sorek, R Sorek, R Sorek, S Karlin, S Misra, S Richards, S-T Chen, SF Altschul, SM Berget, TE Royce, V Stolc, W Wang, WG Hill, Y Xing, Y Xing, Z Kan   +100 more
core   +5 more sources

Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies

PLoS ONE, 2013
Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are major causes of blindness. They result from mutations in many genes which has long hampered comprehensive genetic analysis.
T. Eisenberger, C. Neuhaus, Arif O. Khan, C. Decker, M. Preising, C. Friedburg, A. Bieg, M. Gliem, P. C. Issa, F. Holz, S. Baig, Y. Hellenbroich, A. Galvez, K. Platzer, B. Wollnik, N. Laddach, S. Ghaffari, M. Rafati, E. Botzenhart, S. Tinschert, Doris Börger, A. Bohring, J. Schreml, S. Körtge-Jung, C. Schell-Apacik, Khadijah H Bakur, J. Al-Aama, T. Neuhann, P. Herkenrath, G. Nürnberg, P. Nürnberg, John S. Davis, A. Gal, C. Bergmann, B. Lorenz, H. Bolz   +35 more
semanticscholar   +1 more source

Exon Inclusion Is Dependent on Predictable Exonic Splicing Enhancers [PDF]

Molecular and Cellular Biology, 2005
We have previously formulated a list of approximately 2,000 RNA octamers as putative exonic splicing enhancers (PESEs) based on a statistical comparison of human exonic and nonexonic sequences (X. H. Zhang and L. A. Chasin, Genes Dev. 18:1241-1250, 2004).
Xiang H-F, Zhang, Thaned, Kangsamaksin, Mann S P, Chao, Joydeep K, Banerjee, Lawrence A, Chasin   +4 more
openaire   +2 more sources

Monitoring of circulating tumor DNA allows early detection of disease relapse in patients with operable breast cancer

Molecular Oncology, EarlyView.
Monitoring circulating tumor DNA (ctDNA) in patients with operable breast cancer can reveal disease relapse earlier than radiology in a subset of patients. The failure to detect ctDNA in some patients with recurrent disease suggests that ctDNA could serve as a supplement to other monitoring approaches.
Kristin Løge Aanestad, Marie Austdal, Oddmund Nordgård, Gunnar Mellgren, Satu Oltedal, Marie L. Austbø, Ylva H. Vignes, Thomas Helland, Kristin Jonsdottir, Tone H. Lende, Emilius A. M. Janssen, Bjørnar Gilje, Kjersti Tjensvoll, PBCB study group, Gunnar Mellgren, Tone Hoel Lende, Anette Heie, Kristin Viste, Anita Røyneberg Alvheim, Emiel AM Janssen, Kristin Jonsdottir, Ann Cathrine Kroksveen, Thomas Helland, Einar Gudlaugsson, Oddmund Nordgård, Satu Oltedal, Kristin Løge Aanestad, Jan Terje Kvaløy, Kirsten Lode, Kari Britt Hagen, Marie Austdal, Ylva H. Vignes, Siri Tungland Sola, Nina Egeland Amundsen, Finn Magnus Eliassen, Emeritus Ernst A Lien   +35 more
wiley   +1 more source

Identification and evolutionary analysis of novel exons and alternative splicing events using cross-species EST-to-genome comparisons in human, mouse and rat

BMC Bioinformatics, 2006
Background Alternative splicing (AS) is important for evolution and major biological functions in complex organisms. However, the extent of AS in mammals other than human and mouse is largely unknown, making it difficult to study AS evolution in mammals ...
Ho Jar-Yi, Chen Chuang-Jong, Chen Feng-Chi, Chuang Trees-Juen   +3 more
doaj   +1 more source

Differential chromatin marking of introns and expressed exons by H3K36me3

Nature Genetics, 2008
Variation in patterns of methylations of histone tails reflects and modulates chromatin structure and function. To provide a framework for the analysis of chromatin function in Caenorhabditis elegans, we generated a genome-wide map of histone H3 tail ...
P. Kolasinska-Zwierz, T. Down, I. Latorre, T. Liu, X. Liu, J. Ahringer   +5 more
semanticscholar   +1 more source