Results 61 to 70 of about 41,960 (230)

De novo transcriptome assembly reveals sex-specific selection acting on evolving neo-sex chromosomes in Drosophila miranda. [PDF]

, 2014
BackgroundThe Drosophila miranda neo-sex chromosome system is a useful resource for studying recently evolved sex chromosomes. However, the neo-Y genomic assembly is fragmented due to the accumulation of repetitive sequence.
Bachtrog, Doris, Kaiser, Vera B
core   +2 more sources

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

Deep sequencing of pre-translational mRNPs reveals hidden flux through evolutionarily conserved alternative splicing nonsense-mediated decay pathways

Genome Biology, 2021
Background Alternative splicing, which generates multiple mRNA isoforms from single genes, is crucial for the regulation of eukaryotic gene expression.
Carrie Kovalak, Scott Donovan, Alicia A. Bicknell, Mihir Metkar, Melissa J. Moore   +4 more
doaj   +1 more source

Amlexanox Enhances Premature Termination Codon Read-Through in COL7A1 and Expression of Full Length Type VII Collagen: Potential Therapy for Recessive Dystrophic Epidermolysis Bullosa. [PDF]

, 2017
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare monogenic blistering disorder caused by the lack of functional type VII collagen, leading to skin fragility and subsequent trauma-induced separation of the epidermis from the underlying dermis ...
Atanasova, Velina S., Bruckner-Tuderman, Leena, Chen, Mei, Gruber, Christina, Has, Cristina, Hofbauer, Josefina Piñón, Jiang, Qiujie, McGrath, John A., Prisco, Marco, South, Andrew P., Uitto, Jouni   +10 more
core   +1 more source

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

Investigating the mechanism behind the feedback regulation of the Exon Junction Complex component MAGOH [PDF]

, 2020
RNA binding proteins are critical for regulation of RNA function, and therefore maintaining appropriate levels of these proteins is important for cellular regulation.
Nega, Abigail
core  

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 role of RNA helicases in aging and lifespan regulation

Translational Medicine of Aging, 2017
RNA helicases are members of a large family of enzymes that function in unwinding RNA duplexes and modulating interactions between RNAs and proteins. RNA helicases participate in numerous cellular processes, including transcription, translation, mRNA ...
Sangsoon Park, Hae-Eun H. Park, Heehwa G. Son, Seung-Jae V. Lee   +3 more
doaj   +1 more source

Integrating Spatial Proteogenomics in Cancer Research

Advanced Science, EarlyView.
Xx xx. ABSTRACT Background: Spatial proteogenomics marks a paradigm shift in oncology by integrating molecular analysis with spatial information from both spatial proteomics and other data modalities (e.g., spatial transcriptomics), thereby unveiling tumor heterogeneity and dynamic changes in the microenvironment.
Yida Wang, Yang Wu, Feng Zhang, Parthiban Periasamy, Haiyue You, Denise Goh, Rachel Elizabeth Ann Fincham, Xin Ning, Danping Wu, Lu Liu, Ying Jiang, Zhiwen Qian, Joe Yeong, Yan Zhang   +13 more
wiley   +1 more source

Progressive retinal degeneration and glial activation in the Cln6nclf mouse model of neuronal ceroid lipofuscinosis : a beneficial effect of DHA and Curcumin supplementation [PDF]

, 2013
Neuronal ceroid lipofuscinosis (NCL) is a group of neurodegenerative lysosomal storage disorders characterized by vision loss, mental and motor deficits, and spontaneous seizures.
Jägle, Herbert, Karlstetter, Marcus, Langiu, Monica, Langmann, Thomas, Mirza, Myriam, Ruonala, Mika O., Somogyi, Aleksandra, Swaroop, Anand, Tamm, Ernst R., Volz, Cornelia   +9 more
core   +2 more sources