Results 261 to 270 of about 1,891,272 (273)

Skin calcium deposits in primary familial brain calcification: A novel potential biomarker

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Objective Primary Familial Brain Calcification (PFBC) is a rare neurodegenerative disorder characterized by small vessel calcifications in the basal ganglia. PFBC is caused by pathogenic variants in different genes and its physiopathology is still largely unknown. Skin vascular calcifications have been detected in single PFBC cases, suggesting
Aron Emmi, Giulia Bonato, Aleksandar Tushevski, Cinzia Bertolin, Francesco Cavallieri, Andrea Porzionato, Angelo Antonini, Leonardo Salviati, Miryam Carecchio   +8 more
wiley   +1 more source

A chromosome-level genome assembly of eriophyoid mite Setoptus koraiensis. [PDF]

Sci Data
Shao ZK, Chen L, Sun JT, Xue XF.
europepmc   +1 more source

Targeted Long‐Read Sequencing as a Single Assay Improves the Diagnosis of Spastic‐Ataxia Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The hereditary spastic‐ataxia spectrum disorders are a group of disabling neurological diseases. The traditional genetic testing pathway is complex, multistep and leaves many cases unsolved. We aim to streamline and improve this process using long‐read sequencing. Methods We developed a targeted long‐read sequencing strategy with the
Laura Ivete Rudaks, Igor Stevanovski, Dennis Yeow, Andre L. M. Reis, Sanjog R. Chintalaphani, Pak Leng Cheong, Hasindu Gamaarachchi, Lisa Worgan, Kate Ahmad, Michael Hayes, Andrew Hannaford, Samuel Kim, Victor S. C. Fung, Gabor M. Halmagyi, Andrew Martin, David Manser, Michel Tchan, Karl Ng, Marina L. Kennerson, Ira W. Deveson, Kishore Raj Kumar   +20 more
wiley   +1 more source

The genome assembly of the farmed European whitefish Coregonus lavaretus L. from the Finnish selective breeding programme. [PDF]

BMC Genom Data
Pokharel K, Fischer D, Iso-Touru T, Tapio I, Tapio M, Leinonen T, Kause A.   +6 more
europepmc   +1 more source

High‐Throughput Immunoassays for Cavin‐4 IgG: A Diagnostic Tool for Immune‐Mediated Rippling Muscle Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACTCavin‐4 was identified as a potential autoantigen for immune‐mediated rippling muscle disease (iRMD). To validate this, we developed and tested various immunoassays, including a cell‐based assay (CBA), cavin‐4 recombinant protein ELISA, and multi‐peptide ELISA. Among 19 iRMD patients, all exhibited muscle rippling, and 13 had percussion‐induced
Reghann G. LaFrance‐Corey, Haidara Kherbek, Nimalan Harinesan, Margherita Milone, Naveen K. Paramasivan, Pallab Sarker, Andrew M. Knight, Carley Karsten, Surendra Dasari, Teerin Liewluck, William J. Litchy, Sean J. Pittock, John R. Mills, Divyanshu Dubey   +13 more
wiley   +1 more source

Chloroplast Genome Evolution of Hamamelidaceae at Subfamily Level. [PDF]

Ecol Evol
Liu Y, Liu K, Dong W, Dong S, Wang Y, Xu C, Li E, Sun J.   +7 more
europepmc   +1 more source

Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Approximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant. Minigene assays confirmed that this variant causes aberrant splicing.
Xiaosheng Zheng, Chenxin Ying, Nan Jin, Jinghong Ma, Xinhua Wan, Xunhua Li, Wei Luo   +6 more
wiley   +1 more source

High-quality genome assembly of the azooxanthellate coral Tubastraea coccinea (Lesson, 1829). [PDF]

Sci Data
Chen X, Han W, Chang X, Tang C, Chen K, Bao L, Zhang L, Hu J, Wang S, Bao Z.   +9 more
europepmc   +1 more source

Chromosome-level genome assembly of the threatened ornamental plant Hibiscus yunnanensis. [PDF]

Sci Data
Gurung B, Li J, Fang D, Lin Q, Guo X, Chen G.   +5 more
europepmc   +1 more source

A telomere-to-telomere chromosome-scale genome assembly of glass catfish (Kryptopterus vitreolus). [PDF]

Sci Data
Bian C, Li D, Wang Y, He Z, Chen WT, Chong CM, Zhou H, Shi Q.   +7 more
europepmc   +1 more source