Results 281 to 290 of about 3,270,422 (387)

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

Upgraded circular single-stranded DNA regulators for multiple-input multiple-output gene circuits in mammalian cells. [PDF]

Sci Adv
Tang L, Wang J, Xu K, Li Z, Song J.
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

Immobilizing and Patterning DNA on Simplified Protein-Free DNA-Based Lateral Flow Assays. [PDF]

ACS Omega
Lee H, Hwang H, Lee JY, Lee MY, Kim Y.
europepmc   +1 more source

Pathway Analyses of Inherited Neuropathies Identify Putative Common Mechanisms of Axon Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Inherited neuropathies (IN) are associated with over 100 different genetic mutations presenting with a variety of phenotypes. This complexity suggests multiple pathways may converge onto a limited number of downstream pathways to effect axonal injury.
Christopher R. Cashman, Craig Blackstone, Reza Sadjadi   +2 more
wiley   +1 more source

Fully Automated Complementary DNA Microarray Segmentation using a Novel Fuzzy-based Algorithm.

J Med Signals Sens, 2015
Saberkari H, Bahrami S, Shamsi M, Amoshahy MJ, Ghavifekr HB, Sedaaghi MH.   +5 more
europepmc   +1 more source

Factors for Rituximab Refractoriness in AQP4‐IgG+ NMOSD: A Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuromyelitis optica spectrum disorder (NMOSD) is a severe autoimmune condition of the central nervous system (CNS), often associated with aquaporin‐4 antibodies (AQP4‐IgG). Rituximab, a CD20+ B‐cell depleting monoclonal antibody, is widely used as first‐line therapy.
Mariano Marrodan, María A. Piedrabuena, María A. Zarate, Sofía Rodríguez Murúa, Ezequiel I. Surace, Mauricio F. Farez, Marcela P. Fiol, María C. Ysrraelit, Jorge Correale   +8 more
wiley   +1 more source

Molecular cloning and characterization of complementary DNA encoding for ferredoxin-dependent glutamate synthase in maize leaf

, 1991
Hitoshi Sakakibara, Masanori Watanabe, Toshiharu Hase, Tsuyoshi Sugiyama   +3 more
openalex   +1 more source

Analysis of the Longitudinal Behavior of Serum Levels of Soluble Flt1 and Placental Growth Factor in Pregnant Patients With Systemic Lupus Erythematosus

Arthritis Care &Research, EarlyView.
Objective This study analyzed longitudinal trajectories of soluble Flt1 (sFlt1) levels, placenta growth factor (PlGF) levels, and sFlt1:PlGF ratios in a cohort of pregnant patients with systemic lupus erythematosus (SLE). Methods Blood samples were collected (14–18, 24–26, 30–32, 34–36, and 38–40 weeks), stored at −80°C, and evaluated for serum levels ...
Nilson R. de Jesús, Guilherme R. de Jesús, Marcela I. Lacerda, Flávia C. dos Santos, Jeane de S Nogueira, Luiz Cristóvão Porto, Evandro S. F. Coutinho, Evandro M. Klumb   +7 more
wiley   +1 more source

Real-Time Fluorescence-Based Method for Dynamic Quantification of Droplet Network Assembly. [PDF]

ACS Omega
Faggian A, Casiraghi F, Hanczyc MM.
europepmc   +1 more source