Results 281 to 290 of about 3,810,652 (392)

Exosome Proteomics of SOD1D90A Mutation Suggest Early Disease Mechanisms, and FN1 as a Biomarker

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Amyotrophic lateral sclerosis (ALS) is a neuromuscular disease. Super oxide dismutase 1 (SOD1) gene mutations cause ALS, and the D90A mutation is associated with primarily upper motor neuron (UMN) loss. Objective Our goal is to reveal the early cellular events in ALS pathology and identify potential pharmacokinetic biomarkers, using well ...
Mukesh Gautam, Ali Laith, Aslihan Gunel, Melda Yilmaz, Nazli Basak, Halil Idrisoglu, P. Hande Ozdinler   +6 more
wiley   +1 more source

Germline Mutations in DNA Repair Genes in Patients with Pancreatic Neuroendocrine Neoplasms: Diagnostic and Therapeutic Implications. [PDF]

Curr Oncol
Jurecka-Lubieniecka B, Ros-Mazurczyk M, Sygula A, Cortez AJ, Krzempek M, Tuleja AB, Kotecka-Blicharz A, Cieslicka M, Oczko-Wojciechowska M, Handkiewicz-Junak D.   +9 more
europepmc   +1 more source

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Retraction Note: Defective DNA repair and chromatin organization in patients with quiescent systemic lupus erythematosus. [PDF]

Arthritis Res Ther
Souliotis VL, Vougas K, Gorgoulis VG, Sfikakis PP.   +3 more
europepmc   +1 more source

Defective DNA repair replication in xeroderma pigmentosum fibroblasts and DNA repair of somatic cell hybrids after UV irradiation.

, 1975
H. Akiba, Taizo Kato, HIROYURI NAKANO, Makoto Seiji   +3 more
openalex   +2 more sources

Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Intracerebral Hemorrhage (ICH) is a leading cause of morbidity and mortality worldwide and lacks effective therapeutic interventions. Despite previous studies, the genetic underpinnings of ICH remain poorly understood. We sought to investigate the role of copy number variants (CNVs) in ICH pathophysiology to identify novel ...
Savvina Prapiadou, Carl D. Langefeld, Padmini Sekar, Mary Comeau, Timothy Howard, Tamara N. Kimball, Chen Bowang, Hyacinth I. Hyacinth, Jonathan Rosand, Christopher D. Anderson, Caspar Grond‐Ginsbach, Daniel Woo, Stacie L. Demel   +12 more
wiley   +1 more source

Protocol for imaging-based quantification of RNAPII clearance during transcription-coupled DNA repair. [PDF]

STAR Protoc
de Groot BAFJ, van der Meer PJ, van den Heuvel D, Luijsterburg MS.   +3 more
europepmc   +1 more source

The Relationship Between Inflammation and Central Nervous System in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Aim Multiple sclerosis is an autoimmune demyelination disease that is seen especially in the young population and has a progressive course, causing motor, sensory, and cognitive deficits. In the literature, the pathogenesis of MS disease and the interconnection between the immune and central nervous system in the disease have not been fully ...
Gamze Ansen, Ali Behram Salar, Abdulkadir Ermis, Erkingul Birday, Lutfu Hanoglu, Bayram Ufuk Sakul   +5 more
wiley   +1 more source

The DNA Repair Component EEPD1 Regulates Actin Polymerization. [PDF]

Biol Cell
Hromas R, Kirby A, Carrillo A, Jasiwal A, Kong K, Tran MT, Arris D, Williamson EA.   +7 more
europepmc   +1 more source

The capacity of oocytes for DNA repair

Cellular and Molecular Life Sciences, 2018
J. Stringer, A. Winship, S. Liew, Karla J. Hutt   +3 more
semanticscholar   +1 more source