Results 111 to 120 of about 593,183 (294)

A note on the evaluation of a beta-casein variant in bovine breeds by allele-specific PCR and relevance to β-casomorphin [PDF]

, 2008
peer-reviewedThis work was supported by Enterprise Ireland and by a Teagasc Walsh fellowship to A.F. Keating.Two genetic variants of the bovine β-casein gene (A1 and B) encode a histidine residue at codon 67, resulting in potential liberation of a ...
Cairns, M.T., Keating, A.F., Ross, R Paul, Smith, T.J.   +3 more
core  

TBK1‐Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We report a 58‐year‐old woman with a novel splice‐site variant in the TANK‐binding kinase 1 (TBK1:c.993–2A>C p.Ala332TyrfsTer39) who sequentially developed primary lateral sclerosis (PLS) followed by right temporal variant frontotemporal dementia (rtvFTD). Neuroimaging demonstrated right anterior temporal atrophy before cognitive symptoms, and
Tomoyasu Matsubara, Naoki Kihara, Satoko Miyatake, Koji Fujita, Konoka Tachibana, Ryosuke Miyamoto, Hiroki Yamazaki, Yusuke Osaki, Nazere Keyoumu, Yuki Kuwano, Nobutoshi Morimoto, Suzuran Saito, Eriko Koshimizu, Yoichi Otomi, Kenji Ishibashi, Masafumi Harada, Naomichi Matsumoto, Hiroyuki Morino, Yuishin Izumi   +18 more
wiley   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Enhanced effective codon numbers to understand codon usage bias [PDF]

Biosystems, 2019
AbstractCodon usage bias is a well recognized phenomenon but the relative influence of its major causes: G+C content, mutational biases, and selection, are often difficult to disentangle. This paper presents methods to calculate modified effective codon numbers that allow the investigation of the sources of codon bias and how genes or organisms have ...
openaire   +2 more sources

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

The link between adjacent codon pairs and mRNA stability

BMC Genomics, 2017
Background Evidence in diverse organisms suggests that codon optimality is a major determinant of mRNA translation and degradation. Codon optimality is thought to act by modulating the efficiency of ribosome elongation.
Yuriko Harigaya, Roy Parker
doaj   +1 more source

Lipid Nanoparticles for the Delivery of CRISPR/Cas9 Machinery to Enable Site‐Specific Integration of CFTR and Mutation‐Agnostic Disease Rescue

Advanced Functional Materials, EarlyView.
Lipid nanoparticles (LNPs) are optimized to co‐deliver Cas9‐encoding messenger RNA (mRNA), a single guide RNA (sgRNA) targeting the endogenous cystic fibrosis transmembrane conductance regulator (CFTR) gene, and homologous linear double‐stranded donor DNA (ldsDNA) templates encoding CFTR.
Ruth A. Foley, Paul G. Ayoub, Vrishti Sinha, Colin Juett, Alicia Sanoyca, Emily C. Duggan, Lindsay E. Lathrop, Priyanka Bhatt, Kevin Coote, Beate Illek, Brigitte N. Gomperts, Donald B. Kohn, Steven J. Jonas   +12 more
wiley   +1 more source

The complete chloroplast genome of Gerbera piloselloides (L.) Cass., 1820 (Carduoideae, Asteraceae) and its phylogenetic analysis

Open Life Sciences
Gerbera piloselloides (L.) Cass., 1820 of the genus Gerbera is of importance in Chinese ethnic medicine. In this research, the whole genome DNA of G. piloselloides was extracted and sequenced using the Illumina NovaSeq platform, its chloroplast genome ...
Sheng Wentao
doaj   +1 more source

An Engineered Living Material With Pro‐Angiogenic Activity Inducible by Near‐Infrared Light

Advanced Functional Materials, EarlyView.
NIR‐responsive engineered living materials (ELMs) for controlled angiogenesis: Near‐infrared (800 nm) light activates engineered probiotic bacteria within alginate‐based living materials to secrete a blood vessel‐regenerating protein. The released protein promotes pro‐angiogenic effects in endothelial networks and chick chorioallantoic membranes.
Anwesha Chatterjee, Stefanie S. M. Meier, Sara Trujillo, Andreas Möglich, Shrikrishnan Sankaran   +4 more
wiley   +1 more source