Results 121 to 130 of about 224,762 (156)

Computational studies reveal structural characterization and novel families of Puccinia striiformis f. sp. tritici effectors. [PDF]

PLoS Comput Biol
Asghar R, Wu N, Ali N, Wang Y, Akkaya M.
europepmc   +1 more source

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source

Molecular Insights into the Marine Gastropod <i>Olivancillaria urceus</i>: Transcriptomic and Proteopeptidomic Approaches Reveal Polypeptides with Putative Therapeutic Potential. [PDF]

Int J Mol Sci
Barros GM, Gama LF, Mello FR, Corrêa CN, Fiametti LO, Montenegro H, Ottoni CA, Castro LM.   +7 more
europepmc   +1 more source

HPDL Variant Type Correlates With Clinical Disease Onset and Severity

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee, Olivia Kim‐Mcmanus, Jennifer H. Yang, Richard Haas, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Yuji Nakamura, Mohamed S. Abdel‐Hamind, Darius Ebrahimi‐Fakhari, Julian E. Alecu, Nicola Brunetti‐Pierri, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Stephanie Gross, Yasemin Alanay, Paria Najarzadeh Totbati, Manya Yadavilli, Liana Friedman, Naomi Meave Ojeda, Joseph G. Gleeson   +19 more
wiley   +1 more source

Chromosome-level genome assembly of Paracoccus marginatus based on PacBio and Hi-C technologies. [PDF]

Sci Data
Wei J, Xue J, Shen X, Zhang G, Zhao Q, Lu Y, Niu M, Ji W.   +7 more
europepmc   +1 more source

Serotonergic and Dopaminergic Function in Neuropsychiatrically Asymptomatic People With HIV on Antiretroviral Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective People with HIV (PWH) on antiretroviral therapy (ART) still experience neurocognitive dysfunction and accelerated brain volume loss. To assess whether the serotonergic and dopaminergic systems are affected, we used [11C]DASB positron emission tomography (PET) to assess presynaptic serotonergic function and [18F]FDOPA PET to measure ...
Chuen‐Yen Lau, Anna Lyndaker, Swati Shah, Paul Wakim, Amelia Mitchell, Cynthia Monroe, Alan Kim, Tracy L. Cropper, Govind Nair, Joseph Snow, Bryan R. Smith, Avindra Nath, Dima A. Hammoud   +12 more
wiley   +1 more source

Transcriptome of Taenia solium during in vitro cyst activation and initial growth into the tapeworm stage. [PDF]

Sci Data
Castaneda-Carpio D, Gutierrez-Loli R, Maravi-Jaime J, Del Aguila SW, Villar-Davila V, Moyano LM, Tapia-Limonchi R, Chenet SM, Guerra-Giraldez C.   +8 more
europepmc   +1 more source

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas, Cristina Domínguez‐González, Daniel Natera‐de Benito, Solange Kapetanovic, Aurelio Hernández‐Laín, Berta Estévez‐Arias, Laura Llansó, Carlos Ortez, Cristina Jou, Itxaso Martí‐Carrera, Arístides López‐Márquez, Maria José Rodríguez, Laura González‐Mera, Velina Nedkova, Roberto Fernández‐Torrón, Benjamín Rodríguez‐Santiago, Cecília Jimenez‐Mallebrera, Raul Juntas‐Morales, Adolfo López‐de Munain, Jordi Surrallés, Andrés Nascimento, Eduard Gallardo, Montse Olivé, Pia Gallano, Lidia González‐Quereda   +24 more
wiley   +1 more source

Telomere-to-telomere gap-free genome assembly of Euchiloglanis kishinouyei. [PDF]

Sci Data
Wang H, Yang X, Liu J, Wang H, Yu Y, Su X, Fan Y, Liu H, Yang R.   +8 more
europepmc   +1 more source

Brain Characteristics in Patients With Myelin Oligodendrocyte Glycoprotein Antibody‐Associated Disorder by 7.0 Tesla MRI

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myelin oligodendrocyte glycoprotein antibody‐associated disease (MOGAD) can radiographically mimic multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD). The disease hallmarks cortical lesion, central vein sign (CVS) and paramagnetic rim lesions identified in MS have not yet been comprehensively investigated in ...
Lei Su, Joseph Kuchling, Chenyang Gao, Thoralf Niendorf, Carsten Finke, Zhe Zhang, Ai Guo, Jing Jing, De‐Cai Tian, Yu‐Jing Li, Mengting Zhang, Xiaoyu Shi, Xinyao Liu, Huabing Wang, Yaou Liu, Claudia Chien, Michael Levy, Yunyun Duan, Friedemann Paul, Fu‐Dong Shi   +19 more
wiley   +1 more source