Results 51 to 60 of about 419,485 (330)

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

Exon skipping for DMD [PDF]

Orphanet Journal of Rare Diseases, 2012
Duchenne muscular dystrophy (DMD) is a severe, progressive muscle-wasting disorder, while Becker muscular dystrophy (BMD) is milder muscle disease [1]. Both are caused by mutations in dystrophin, a protein, which stabilizes muscle fibers during contraction by linking muscle actin to the extracellular matrix.
Annemieke Aartsma-Rus, Judith C.T. van Deutekom, Jan J.G.M. Verschuuren, G. Campion, Gert-Jan B. van Ommen   +4 more
openaire   +2 more sources

The association between DNA methylation and exon expression in the Pacific oyster Crassostrea gigas. [PDF]

PLoS ONE, 2017
DNA methylation is one of the most important epigenetic modifications of eukaryotic genomes and is believed to play integral roles in diverse biological processes.
Kai Song, Li Li, Guofan Zhang
doaj   +1 more source

Multicolor fluorescence in situ hybridization on metaphase chromosomes and interphase Halo-preparations using cosmid and YAC clones for the simultaneous high resolution mapping of deletions in the dystrophin gene [PDF]

, 1994
We report on multicolor fluorescence in situ hybridization protocols for the simultaneous visualization of deletion-prone regions for carrier detection of Duchenne/ Becker (DMD/BMD) muscular dystrophy.
Blonden, Lau, Cremer, Marion, Cremer, Thomas, Kilian, Karin, Ried, Thomas, Schröck, Evelin, Tocharoentanaphol, Chintana   +6 more
core   +1 more source

Intracerebral Hemorrhage and Ischemic Stroke of Different Etiologies Have Distinct Alternatively Spliced mRNA Profiles in the Blood: a Pilot RNA-seq Study. [PDF]

, 2015
Whole transcriptome studies have used 3'-biased expression microarrays to study genes regulated in the blood of stroke patients. However, alternatively spliced messenger RNA isoforms have not been investigated for ischemic stroke or intracerebral ...
Ander, Bradley P, Dykstra-Aiello, Cheryl, Ho, Carolyn, Hull, Heather, Jickling, Glen C, Liu, DaZhi, Orantia, Miles, Stamova, Boryana, Zhan, Xinhua   +8 more
core   +2 more sources

A putative exonic splicing enhancer in exon 7 of thePDHA1 gene affects splicing of adjacent exons [PDF]

Human Mutation, 2008
A nonsense mutation (c.729C>A, Y243X) in exon 7 of the PDHA1 gene in a patient with pyruvate dehydrogenase deficiency results in aberrant splicing of the primary transcript with production of stable mRNAs which lack either both exons 6 and 7 or exon 7 alone.
Ridout, C, Keighley, P, Krywawych, S, Brown, R, Brown, G   +4 more
openaire   +3 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

Abundance of clinical variants in exons included in multiple transcripts

Human Genomics, 2018
Previous studies showed that the magnitude of selection pressure in constitutive exons is higher than that in alternatively spliced exons. The intensity of selection was also shown to be depended on the inclusion level of exons: the number of transcripts
Sankar Subramanian
doaj   +1 more source

Functional Analysis Of The Mutations Of E Cadherin Exon 4-5, Exon 7, Exon 8, Exon 9 And Exon 16 In Sporadic Infiltrating Ductal Carcinoma Of The Breast [PDF]

IOSR Journal of Dental and Medical Sciences, 2014
E-cadherin mutations are a major step in the metastatic progression. Mutated cadherins contributes to different aspects of cancer progression like drug resistance, angiogenesis, cancer cell invasion and metastasis. Thus cadherins can be regarded as a valuable diagnostic and prognostic indicators as well as potential therapeutic targets of cancer ...
Revathi Kasthuri, Malathi Veeramani
openaire   +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