Results 51 to 60 of about 397,235 (339)

Use of a Fluorescent Aptamer RNA as an Exonic Sequence to Analyze Self-Splicing Ability of a Group I Intron from Structured RNAs

Biology, 2016
Group I self-splicing intron constitutes an important class of functional RNA molecules that can promote chemical transformation. Although the fundamental mechanism of the auto-excision from its precursor RNA has been established, convenient assay ...
Airi Furukawa, Takahiro Tanaka, Hiroyuki Furuta, Shigeyoshi Matsumura, Yoshiya Ikawa   +4 more
doaj   +1 more source

Intron Regions as Genetic Markers for Population Genetic Investigations of Opisthorchis viverrini sensu lato and Clonorchis sinensis

Animals, 2023
Opisthorchiasis and clonorchiasis are prevalent in Southeast and Far-East Asia, which are caused by the group 1 carcinogenic liver flukes Opisthorchis viverrini sensu lato and Clonorchis sinensis infection. There have been comprehensive investigations of
Chairat Tantrawatpan, Wanchai Maleewong, Tongjit Thanchomnang, Warayutt Pilap, Takeshi Agatsuma, Ross H. Andrews, Paiboon Sithithaworn, Weerachai Saijuntha   +7 more
doaj   +1 more source

A new targeted CFTR mutation panel based on next-generation sequencing technology [PDF]

, 2017
Searching for mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR) is a key step in the diagnosis of and neonatal and carrier screening for cystic fibrosis (CF), and it has implications for prognosis and personalized therapy ...
Alberti, Luisella, Biffignandi, Alice, Bruno, Sabina Maria, Colombo, Carla, Corbetta, Carlo, Costantino, Lucy, Giannone, Valentina, Lucarelli, Marco, Porcaro, Luigi, Seia, Manuela, Torresani, Erminio   +10 more
core   +2 more sources

Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms

Molecular Genetics & Genomic Medicine, 2019
Background Rare variants (RV) in immunoglobulin mu‐binding protein 2 (IGHMBP2) [OMIM 600502] can cause an autosomal recessive type of Charcot‐Marie‐Tooth (CMT) disease [OMIM 616155], an inherited peripheral neuropathy.
Thomas A. Cassini, Laura Duncan, Lynette C. Rives, John H. Newman, John A. Phillips, Mary E. Koziura, Jennifer Brault, Rizwan Hamid, Joy Cogan, Undiagnosed Diseases Network   +9 more
doaj   +1 more source

A striatal-enriched intronic GPCR modulates huntingtin levels and toxicity

eLife, 2015
Huntington's disease (HD) represents an important model for neurodegenerative disorders and proteinopathies. It is mainly caused by cytotoxicity of the mutant huntingtin protein (Htt) with an expanded polyQ stretch.
Yuwei Yao, Xiaotian Cui, Ismael Al-Ramahi, Xiaoli Sun, Bo Li, Jiapeng Hou, Marian Difiglia, James Palacino, Zhi-Ying Wu, Lixiang Ma, Juan Botas, Boxun Lu   +11 more
doaj   +1 more source

Phase distribution of spliceosomal introns: implications for intron origin [PDF]

BMC Evolutionary Biology, 2006
Abstract Background The origin of spliceosomal introns is the central subject of the introns-early versus introns-late debate. The distribution of intron phases is non-uniform, with an excess of phase-0 introns. Introns-early explains this by speculating that a fraction of present-day introns were present between ...
Naoya Kenmochi, Maki Yoshihama, Hung D. Nguyen   +2 more
openaire   +4 more sources

miRNA‐29 regulates epidermal and mesenchymal functions in skin repair

FEBS Letters, EarlyView.
miRNA‐29 inhibits cell‐to‐cell and cell‐to‐matrix adhesion by silencing mRNA targets. Adhesion is controlled by complex interactions between many types of molecules coded by mRNAs. This is crucial for keeping together the layers of the skin and for regenerating the skin after wounding.
Lalitha Thiagarajan, Rosa Sanchez‐Alvarez, Chiho Kambara, Poojitha Rajasekar, Yuluang Wang, François Halloy, Jonathan Hall, Hans‐Jürgen Stark, Iris Martin, Petra Boukamp, Svitlana Kurinna   +10 more
wiley   +1 more source

The evolutionary dynamics that retain long neutral genomic sequences in face of indel deletion bias: a model and its application to human introns

Open Biology, 2022
Insertions and deletions (indels) of short DNA segments are common evolutionary events. Numerous studies showed that deletions occur more often than insertions in both prokaryotes and eukaryotes.
Gil Loewenthal, Elya Wygoda, Natan Nagar, Lior Glick, Itay Mayrose, Tal Pupko   +5 more
doaj   +1 more source

Peroxisome Proliferator-activated receptor alpha gene variation influences age of onset and progression of type 2 diabetes [PDF]

, 2005
Dysregulation of fatty acid metabolism is important in the pathogenesis of type 2 diabetes. Peroxisome proliferator-activated receptor (PPAR) is a master regulator of fatty acid catabolism, and PPAR activators delay the onset of type 2 diabetes.
Acharya, J., Flavell, D.M., Hawe, E., Humphries, S.E., Hurel, S.J., Ireland, H., Mather, H., Stephens, J.W.   +7 more
core  

Constructive role of dissipation for driven coupled bosonic modes [PDF]

, 2008
We describe four cases of childhood B-cell progenitor acute lymphoblastic leukaemia (BCP-ALL) and one of T-cell (T-ALL) with unexpected numbers of interphase signals for ETV6 with an ETV6-RUNX1 fusion probe.
An, Q., Harrison, C.J., Jalali, G.R., Konn, Z.J., Martineau, M., Strefford, J.C., Worley, H., Wright, S.L.   +7 more
core   +1 more source