Results 81 to 90 of about 397,235 (339)

Contribution of Mobile Group II Introns to Sinorhizobium meliloti Genome Evolution

Frontiers in Microbiology, 2018
Mobile group II introns are ribozymes and retroelements that probably originate from bacteria. Sinorhizobium meliloti, the nitrogen-fixing endosymbiont of legumes of genus Medicago, harbors a large number of these retroelements.
Nicolás Toro, Francisco Martínez-Abarca, María D. Molina-Sánchez, Fernando M. García-Rodríguez, Rafael Nisa-Martínez   +4 more
doaj   +1 more source

Reevaluation of the cox1 group I intron in Araceae and angiosperms indicates a history dominated by loss rather than horizontal transfer [PDF]

, 2008
The origin and modes of transmission of introns remain matters of much debate. Previous studies of the group I intron in the angiosperm cox1 gene inferred frequent angiosperm-to-angiosperm horizontal transmission of the intron from apparent incongruence ...
Cusimano, Natalie, Renner, Susanne S., Zhang, Li-Bing   +2 more
core   +1 more source

Long non‐coding RNAs as therapeutic targets in head and neck squamous cell carcinoma and clinical application

FEBS Open Bio, EarlyView.
Long non‐coding RNAs (lncRNAs) occupy an abundant fraction of the eukaryotic transcriptome and an emerging area in cancer research. Regulation by lncRNAs is based on their subcellular localization in HNSCC. This cartoon shows the various functions of lncRNAs in HNSCC discussed in this review.
Ellen T. Tran, Ruchi A. Patel, Amogh Chariyamane, Ratna B. Ray   +3 more
wiley   +1 more source

First Identification of Rare Exonic and Deep Intronic Splice-Altering Variants in Patients With Beta-Sarcoglycanopathy

Frontiers in Pediatrics, 2022
BackgroundThe precise genetic diagnosis of a sarcoglycanopathy or dystrophinopathy is sometimes extremely challenging, as pathogenic non-coding variants and/or complex structural variants do exist in DMD or sarcoglycan genes.
Zhiying Xie, Chengyue Sun, Chang Liu, Xujun Chu, Qiang Gang, Meng Yu, Yiming Zheng, Lingchao Meng, Fan Li, Dongliang Xia, Li Wang, Ying Li, Jianwen Deng, He Lv, Zhaoxia Wang, Wei Zhang, Yun Yuan   +16 more
doaj   +1 more source

Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene [PDF]

, 2009
Cystic fibrosis (CF) is a common recessive disorder caused by >1600 mutations in the CF transmembrane conductance regulator (CFTR) gene. About 13% of CFTR mutations are classified as “splicing mutations,” but for almost 40% of these, their role in ...
BAFFICO AM, CAO A, CORDA D, FAA' V, INCANI, FEDERICA, MASALA, MADDALENA, MELONI A, ROSATELLI, MARIA CRISTINA, SEIA M   +8 more
core   +1 more source

The rise and falls of introns [PDF]

Heredity, 2006
There has been a lively debate over the evolution of eukaryote introns: at what point in the tree of life did they appear and from where, and what has been their subsequent pattern of loss and gain? A diverse range of recent research papers is relevant to this debate, and it is timely to bring them together.
Belshaw, R., Bensasson, D.
openaire   +3 more sources

The role of circular RNAs in regulating cytokine signaling in cancer

FEBS Open Bio, EarlyView.
Cytokines present in the tumor microenvironment fuel cancer development. Aberrant expression of circRNAs contributes to cancer progression. Cytokines are involved in regulating circRNA biogenesis. Furthermore, aberrantly expressed circRNAs regulate the expression of ligands, receptors, and downstream effectors involved in cytokine signaling to promote ...
Vandana Joshi, Swati, Amit Mishra, Amaresh Panda, Vivek Sharma   +4 more
wiley   +1 more source

Selecting informative features of human gene exons

Журнал Белорусского государственного университета: Математика, информатика, 2019
Dimensionality reduction of the human gene exon feature space is considered with the aim of gene identification. To evaluate the performance of various feature selection algorithms, computational experiments were carried out using the examples of exons ...
Andrei V. Volkau, Mikalai M. Yatskou, Vasily V. Grinev   +2 more
doaj   +1 more source

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis [PDF]

, 2010
Phospholipase associated neurodegeneration (PLAN) comprises a heterogeneous group of autosomal recessive neurological disorders caused by mutations in the PLA2G6 gene. Direct gene sequencing detects 85% mutations in infantile neuroaxonal dystrophy.
Brady, Angela F, Crompton, Danielle, De Gressi, Susanna, Foster, Kathleen, Hardy, Carol, Hughes, Imelda, Kurian, Manju A, Lunt, Peter, MacPherson, Lesley, Maher, Eamonn R, McDonald, Fiona, Morgan, Neil V, Pike, Michael G, Rehal, Pauline K, Smith, Matthew   +14 more
core   +1 more source

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source