Results 51 to 60 of about 211,860 (282)

An Analysis for IDH‐Mutant Grade 4 Astrocytoma Based on WHO CNS 5: Implication of Clinical Practice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Purpose There is ongoing debate regarding the therapeutic approach and prognosis for IDH‐mutant grade 4 astrocytoma, a newly defined subtype of diffuse glioma in the 2021 WHO classification system for central nervous system tumors (WHO CNS 5). The aim of this study was to explore the clinical outcome and prognosticators for newly diagnosed IDH‐
Xianxin Qiu, Liping Liang, Lingchao Chen, Pengjie Hong, Wanzun Lin, Jiabing Liu, Zhirui Zhou, Wenjia Zhu, Tianqi Wu, Mingyuan Pan, Yihua Zhong, Jing Gao, Zhiyong Qin, Yang Wang   +13 more
wiley   +1 more source

DNA-Related Pathways Defective in Human Premature Aging

The Scientific World Journal, 2002
One of the major issues in studies on aging is the choice of biological model system. The human premature aging disorders represent excellent model systems for the study of the normal aging process, which occurs at a much earlier stage in life in these ...
Vilhelm A. Bohr
doaj   +1 more source

Germline and somatic mtDNA mutations in mouse aging. [PDF]

PLoS ONE, 2018
The accumulation of acquired mitochondrial genome (mtDNA) mutations with aging in somatic cells has been implicated in mitochondrial dysfunction and linked to age-onset diseases in humans.
Hong Ma, Yeonmi Lee, Tomonari Hayama, Crystal Van Dyken, Nuria Marti-Gutierrez, Ying Li, Riffat Ahmed, Amy Koski, Eunju Kang, Hayley Darby, Thanasup Gonmanee, Younjung Park, Don P Wolf, Chong Jai Kim, Shoukhrat Mitalipov   +14 more
doaj   +1 more source

Broadly conserved roles of TMEM131 family proteins in intracellular collagen assembly and secretory cargo trafficking. [PDF]

, 2020
Collagen is the most abundant protein in animals. Its dysregulation contributes to aging and many human disorders, including pathological tissue fibrosis in major organs.
Bai, Meirong, Barbosa, Guilherme Oliveira, Chen, Andrew, Kornberg, Thomas B, Li, Hao, Luo, Shuo, Ma, Dengke K, Sheppard, Dean, Tsukui, Tatsuya, Wang, Bingying, Wang, Xin, Wei, Yuehua, Zhang, Zhe   +12 more
core   +1 more source

Progranulin contributes to endogenous mechanisms of pain defense after nerve injury in mice [PDF]

, 2012
Progranulin haploinsufficiency is associated with frontotemporal dementia in humans. Deficiency of progranulin led to exaggerated inflammation and premature aging in mice.
Albuquerque, Boris, Ding, Aihao, Häussler, Annett, Lim, Hee-Young, Myrczek, Thekla, Tegeder, Irmgard   +5 more
core   +1 more source

Prelamin A and ZMPSTE24 in premature and physiological aging

Nucleus, 2023
As human longevity increases, understanding the molecular mechanisms that drive aging becomes ever more critical to promote health and prevent age-related disorders. Premature aging disorders or progeroid syndromes can provide critical insights into aspects of physiological aging.
Howard J. Worman, Susan Michaelis
openaire   +3 more sources

Molecular Screening of SCN1A‐Related Seizures in Children With Febrile Seizures: Diagnostic Yield and Variant Distribution

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SCN1A‐related seizures first present as febrile seizures (FS). Definitive features emerge later, making early diagnosis challenging. We evaluated the diagnostic yield and clinical characteristics of pathogenic SCN1A variants in FS, and analyzed the effect of variant characteristics on clinical phenotypes required for early ...
Jia Wang, Yang‐Yang Wang, Lin‐Yan Hu, Xiu‐Yu Shi, Wen He, Dan Sun, Baoguang Li, Xiaoming Liu, Sanqing Xu, Lijun Du, Chunhui Tang, Li‐Ping Zou   +11 more
wiley   +1 more source

C-elegans model identifies genetic modifiers of alpha-synuclein inclusion formation during aging [PDF]

, 2008
Inclusions in the brain containing alpha-synuclein are the pathological hallmark of Parkinson's disease, but how these inclusions are formed and how this links to disease is poorly understood.
AA Cooper, AB Singleton, AD Gitler, B Rogina, C Hertzman, CD Link, E Berezikov, E Cuppen, EA Nollen, Ellen A. A. Nollen, GM Halliday, HA Tissenbaum, HG van, HH Liou, HM Beere, JF Morley, Karen L. Thijssen, L Chen, M Kaeberlein, M Kaeberlein, M Nishimura, M Viswanathan, MC Chartier-Harlin, MG Spillantini, MG Spillantini, MH Polymeropoulos, NB Cole, PK Auluck, Rainer Breitling, Robert M. W. Hofstra, Ronald H. A. Plasterk, S Kim, S Miksys, S Roy, S Willingham, Stuart K. Kim, T Kai, TF Outeiro, Tjakko J. van Ham   +38 more
core   +8 more sources

Remaining Burden of Spinal Muscular Atrophy Among Treated Patients: A Survey of Patients and Caregivers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinal muscular atrophy (SMA) significantly impacts motor function. This study aimed to assess the persistent burden and unmet needs among currently treated patients with SMA and their caregivers. Methods Two complementary web‐based surveys were distributed in August 2024 among patients with SMA and their caregivers.
Julie A. Parsons, Natalie Land, Melissa Culhane Maravic, Claire Cagle, Amal Jamaleddine, Hemal Shah, Thomas Brown, Christabella Cherubino, Mouhamed Gueye   +8 more
wiley   +1 more source

Cx3cr1-deficient microglia exhibit a premature aging transcriptome. [PDF]

, 2019
CX3CR1, one of the highest expressed genes in microglia in mice and humans, is implicated in numerous microglial functions. However, the molecular mechanisms underlying Cx3cr1 signaling are not well understood.
Allaire, Norm, Burkly, Linda, Challa, Ravi, Cotleur, Anne C, Cullen, Patrick, Glass, Christopher K, Gosselin, David, Gyoneva, Stefka, Hosur, Raghavendra, Miao, Kelly, Ouyang, Zhengyu, Peterson, Michael, Ransohoff, Richard M, Reynolds, Taylor L, Roberts, Chris, Zhang, Baohong   +15 more
core