Results 141 to 150 of about 1,867,455 (347)

THE ADENINE NUCLEOTIDE CONTENT OF HUMAN BLOOD

, 1935
Mary V. Buell
openalex   +1 more source

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2‐Related Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions. Methods Patients with clinically suspected PKD and no
Jiao‐Jiao Xu, Yu‐Lan Chen, Wan‐Bing Sun, Hong‐Fu Li, Zhi‐Ying Wu, Dian‐Fu Chen   +5 more
wiley   +1 more source

Towards a taxonomic coherence between average nucleotide identity and 16S rRNA gene sequence similarity for species demarcation of prokaryotes.

International Journal of Systematic and Evolutionary Microbiology, 2014
Mincheol Kim, Hyun-Seok Oh, Sang-Cheol Park, J. Chun   +3 more
semanticscholar   +1 more source

Effect of Hyperthyroidism on Liver Pyridine Nucleotide Synthesis

, 1959
Arthur J. Bosch, Alfred E. Harper
openalex   +1 more source

Systemic T Cell Receptor Profiling Reveals Adaptive Immune Activation and Potential Immune Signatures of Diagnosis and Brain Atrophy in Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Epilepsy is increasingly associated with immune dysregulation and inflammation. The T cell receptor (TCR), a key mediator of adaptive immunity, shows repertoire alterations in various immune‐mediated diseases. The unique TCR sequence serves as a molecular barcode for T cells, and clonal expansion accompanied by reduced overall TCR ...
Yong‐Won Shin, Sang Bin Hong, Yong Woo Shin, Inpyeong Hwang, Jaeseong Oh, Jihyeon Choi, Narae Kim, Jangsup Moon, Keun‐Hwa Jung, Kyung‐Il Park, Ki‐Young Jung, Kon Chu, Sang Kun Lee   +12 more
wiley   +1 more source

Genome-Wide Analysis in Vivo of Translation with Nucleotide Resolution Using Ribosome Profiling

Science, 2009
Nicholas T. Ingolia, Sina Ghaemmaghami, J. R. Newman, J. Weissman   +3 more
semanticscholar   +1 more source

Nationwide Characterization of MFN2‐Related CMT in 176 Japanese Patients: Clinical and Genetic Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.
Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Chikashi Yano, Takahiro Hobara, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +13 more
wiley   +1 more source

MatInd and MatInspector: new fast and versatile tools for detection of consensus matches in nucleotide sequence data.

Nucleic Acids Research, 1995
K. Quandt, K. Frech, H. Karas, E. Wingender, Thomas Werner   +4 more
semanticscholar   +1 more source

LIN28B Promotes Cancer Cell Dissemination and Angiogenesis

Advanced Biology, EarlyView.
Children diagnosed with high‐risk neuroblastoma have a 5‐year event‐free survival rate of less than 50% and poor outcomes after recurrence. Deregulation of the LIN28B oncogene can be addressed in these patients. Upregulation of LIN28B is shown to support the metastatic cascade.
Diana Corallo, Sara Menegazzo, Marcella Pantile, Silvia Bresolin, Carlo Zanon, Alessandro Davini, Massimiliano Mazzone, Alessandra Biffi, Sanja Aveic   +8 more
wiley   +1 more source

3α-Hydroxysteroids as Coenzymes of Hydrogen Transfer between Di- and Triphosphopyridine Nucleotides

, 1958
Barbara Hurlock, Paul Talalay
openalex   +1 more source