Results 231 to 240 of about 25,229,043 (255)

QStrain: an interactive platform for viral genome analysis and nucleic acid therapeutic design. [PDF]

BMC Bioinformatics
Jeong E, Lee S, Jeong S, Lee H, Kim KC, Lee JY, Shin M, Yoon S.   +7 more
europepmc   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Phylogenetic Relationships of Five Phallales Species Based on Mitochondrial Genome Analysis. [PDF]

J Fungi (Basel)
Wang Y, Li D, Wang G, Guo Z, Wang X, Liu H.   +5 more
europepmc   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Comprehensive Characterization of 98 Chinese Cases of Genetic Creutzfeldt‐Jakob Disease With T188K Mutation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li, Dong‐Lin Liang, Li‐Ping Gao, Wei‐Wei Zhang, Wei Zhou, A. Ruhan, Bing Xu, Run‐Dong Cao, Kang Xiao, Cao Chen, Qi Shi, Xiao‐Ping Dong   +11 more
wiley   +1 more source

De Novo Assembly and Comparative Mitochondrial Genome Analysis of Three Salt Marsh Specialist Ground Beetle Species (Coleoptera: Carabidae). [PDF]

Ecol Evol
Mack A, Kuhlmann M, Ewers C.
europepmc   +1 more source

Comparative genome analysis provides a foundation for defining salvinorin A biosynthesis in Salvia divinorum. [PDF]

Nat Commun
Li H, Sun Y, Xu W, Sun B, Wu S, Li C, Zhao J, Martin C, Tatsis EC.   +8 more
europepmc   +1 more source

Comprehensive genomic and computational insights into Brucella suis: pan-genome analysis, evolutionary perspectives, and in-silico vaccine design. [PDF]

BMC Genomics
Asif GMSU, Chudhary A, Feng Y, Jiao P, Shatar M, Ulziibat G, Marchioro SB, Li Y, Ye J, Huan Y, Li H, Jiang H, Ding J, Zhang G.   +13 more
europepmc   +1 more source

Whole-genome analysis of a novel <i>Pandoraea sputorum</i> lineage causing high-mortality bloodstream infections. [PDF]

Microb Genom
Wu H, Liu L, Li S, Zhang P, Xing Z, Huang Q, Kuang D, Liu W, Chen C, Xia Q.   +9 more
europepmc   +1 more source