Results 91 to 100 of about 270,897 (278)

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

Potential mutations associated with occult hepatitis B virus status [PDF]

, 2014
Context: Occult hepatitis B virus (HBV) status (OHBS) is simply defined as the presence of HBV DNA in the liver (with or without detectable HBV DNA in the serum), in the absence of serum HBV surface antigen (HBsAg). Importance of OHBS is mostly clinical,
Besharat, S., Katoonizadeh, A., Moradi, A.   +2 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

The complete mitochondrial genome of Gephyrocharax atracaudatus (Characiformes, Characidae) and phylogenetic studies of Characiformes

Mitochondrial DNA. Part B. Resources, 2019
Here, we report the complete mitochondrial genome sequence of Gephyrocharax atracaudatus. The genome is found to be 17,049 bp in length and has a base composition of A (29.95%), G (15.29%), C (26.13%) and T (28.63%).
Youkun Huang, Bingjian Liu, Kehua Zhu, Jianshe Zhang, Fei Jing, Liping Xia, Yifan Liu   +6 more
doaj   +1 more source

Analisis Sekuen Gen Tubulin-β Isotipe 1 Cacing Haemonchus Contortus Isolat Resisten Terhadap Benzimidazole Pada Domba Di Indonesia [PDF]

, 2008
Benzimidazole (BZ)resistance to gastrointestinal nematodes in small ruminants(sheep and goat) has become a significant problem worldwide.Evidences of anthelmintic resistance to albendazole inIndonesia has been reported from some government ownedfarms in ...
Artama, W. T. (Wayan), Haryuningtyas, D. (Dyah)   +1 more
core  

Probing RNA recognition by human ADAR2 using a high-throughput mutagenesis method. [PDF]

, 2016
Adenosine deamination is one of the most prevalent post-transcriptional modifications in mRNA. In humans, ADAR1 and ADAR2 catalyze this modification and their malfunction correlates with disease. Recently our laboratory reported crystal structures of the
Beal, Peter A, Wang, Yuru
core   +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

Conservation and evolution of the programmed ribosomal frameshift in prfB across the bacterial domain

mBio
When the ribosome reaches a stop codon, translation is terminated by a release factor. Bacteria encode two release factors, RF1 and RF2. In many bacteria, the gene encoding RF2 (prfB) contains an in-frame premature stop codon near the beginning of the ...
Cassidy R. Prince, Isabella N. Lin, Heather A. Feaga   +2 more
doaj   +1 more source

The complete mitochondrial genome of Parathailocyba orla (Hemiptera: Cicadellidae: Typhlocybinae)

Mitochondrial DNA. Part B. Resources, 2020
The complete mitochondrial genome of the leafhopper Parathailocyba orla (Dworakowska, ) was sequenced and annotated in this study. The mitochondrial genome is 15,382 bp long, and nucleotide composition of the whole mitogenome is highly A + T biased (A ...
Jia Jiang, Xiaowei Yuan, Zhouwei Yuan, Yuehua Song   +3 more
doaj   +1 more source

Quaternionic representation of the genetic code [PDF]

, 2015
A heuristic diagram of the evolution of the standard genetic code is presented. It incorporates, in a way that resembles the energy levels of an atom, the physical notion of broken symmetry and it is consistent with original ideas by Crick on the origin ...
Carlevaro, C. Manuel, Irastorza, Ramiro M., Vericat, Fernando   +2 more
core   +3 more sources