Results 121 to 130 of about 3,751,417 (261)

Cellular senescence of renal tubular epithelial cells in acute kidney injury

Cell Death Discovery
Cellular senescence represents an irreversible state of cell-cycle arrest during which cells secrete senescence-associated secretory phenotypes, including inflammatory factors and chemokines.
Juan Chen, Huhai Zhang, Xiangling Yi, Qian Dou, Xin Yang, Yani He, Jia Chen, Kehong Chen   +7 more
doaj   +1 more source

Characterising the genomic landscape of two clinical risk groups in CD30+ T-cell lymphoproliferative disorders with cutaneous involvement: a multi-institutional retrospective study

EBioMedicine
Summary: Background: CD30+ T cell lymphoproliferative disorders (CD30+ T LPD) with cutaneous involvement comprise a diverse group of neoplasms with variable clinical outcomes.
Leonardo P.A. Biral, Veronica Russell, Maria Angelica Selim, Caroline Roth, Cassandra Love, Jennifer Shingleton, Dennis Owusu, Ayush Batra, Emily F. Mason, Alexandra Kovach, Catalina Amador, Jean L. Koff, David Jaye, Chee Leong Cheng, Andrew Evans, Raju Pillai, Sirpa Leppä, Eric D. Hsi, Sarah Ondrejka, Matthew McKinney, Chad M. McCall, Shelby Bettoney, Payal Sojitra, Andrew Evens, Amir Behdad, Carlos Galvez, Yuri Fedoriw, Elizabeth Thacker, Devang Thakkar, Clay Parker, Lanie Happ, Magdalena Czader, Rohit Gulati, Kikkeri N. Naresh, Sandeep S. Dave, Jie Wang   +35 more
doaj   +1 more source

Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino, Lavanya Muthukumar, Evan L. Reynolds, Peter Todd, Sinem Ovunc, Sheng Chih Jin, Zitian Tang, Simone Thomas, PNRR Study Group, Ahmet Höke, Brian C. Callaghan, Sarah Berth, Vinay Chaudhry, David Cornblath, Leana Doherty, Lindsey Hayes, Hristelina Ilieva, Thomas Lloyd, Mohammad Khoshnoodi, Brett McCray, Brett Morrison, Bipasha Mukherjee‐Clavin, Lyle Ostrow, Michael Polydefkis, Ricardo Roda, Charlotte Sumner   +25 more
wiley   +1 more source

DNA Repair in the development of human diseases and therapy

, 2020
In 1968 James Cleaver reported the first evidence of a link between a skin cancer-prone human syndrome, xeroderma pigmentosum, and a defect in DNA repair.
Parlanti E, D'Errico M, Simonelli V, Dogliotti E, Pascucci B   +4 more
core  

Compound Heterozygous PNKP Variants Causing Developmental and Epileptic Encephalopathy with Severe Microcephaly: Natural History of Two New Cases and Literature Review

NeuroSci
Microcephaly with early-onset, intractable seizures, and developmental delay (MCSZ) is a rare inherited neurological disorder caused by biallelic loss-of-function variants in the polynucleotide kinase/phosphatase (PNKP) gene, which encodes an enzyme ...
Francesca Ragona, Giuliana Messina, Stefania Magri, Fabio Martino Doniselli, Elena Freri, Laura Canafoglia, Roberta Solazzi, Cinzia Gellera, Tiziana Granata, Jacopo C. DiFrancesco, Barbara Castellotti   +10 more
doaj   +1 more source

Validation of a Cellular Imaging‐Based Method as a Potential Biomarker for SPG4 Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Gaia Fattorini, Valerio Licursi, Gianmarco Dalla Zanna, Flavio Dal Canto, Melissa Barghigiani, Nunzio Setola, Salvatore Rossi, Antonio Funcis, Filippo M. Santorelli, Gabriella Silvestri, Carlo Casali, Francesca Sardina, Cinzia Rinaldo   +12 more
wiley   +1 more source

The Comprehensive Live Cell‐Based Cytotoxicity Assay for Monitoring Disease Activity and Guiding Rescue Therapy in Acute Attacks of NMOSD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuromyelitis optica spectrum disorder (NMOSD) is a devastating neurological disease that lacks serological biomarkers that can accurately reflect disease activity. We established a live cell‐based assay (LCBA) using serum with endogenous complement to quantify the overall cytotoxicity, offering a novel functional tool for monitoring
Xiaona Xu, Jie Ding, Yupeng Du, Guibao Luo, Jinming Li, Rui Liu, Xiaoyi Xu, Xiao Li, Minshu Li, Wei Jiang, Chunsheng Yang   +10 more
wiley   +1 more source

Molecular Dissections of the DNA Repair-Deficiency Disorders Using Induced Pluripotent Stem Cells and CRISPR Interference

Proceedings for Annual Meeting of The Japanese Pharmacological Society, 2018
Tomoda, Kiichiro, Asahi, Michio, Morihara, Hirofumi, Watanabe, Marina   +3 more
openaire   +2 more sources

Inborn errors of immunity in Low German Mennonite communities in Mexico: a case series and narrative literature review

Frontiers in Immunology
BackgroundInborn errors of immunity (IEI) comprise a genetically heterogeneous group of disorders with increased prevalence in consanguineous and endogamous populations due to founder effects.
Luisa Berenise Gámez-González, Luisa Berenise Gámez-González, Saúl Oswaldo Lugo-Reyes, Rogelio Guzmán-Cotaya, Sara Elva Espinosa-Padilla, Luis Enrique Murguía-Favela, Marco Antonio Yamazaki-Nakashimada   +6 more
doaj   +1 more source

Clinical Impact of MGMT Promoter Methylation in IDH‐Mutant Gliomas: Influence of Threshold Selection and Clinical Confounding

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background The clinical relevance of MGMT promoter methylation in IDH‐mutant gliomas remains controversial in the era of molecular classification. We aimed to systematically evaluate its clinical relevance by integrating quantitative assessment, cutoff exploration, and adjustment for clinical confounding.
Haihui Jiang, Linxi Cao, Xiaodong Chen, Siqi Tong, Qinghui Zhu, Jun Yang, Song Lin, Yong Cui   +7 more
wiley   +1 more source