Results 161 to 170 of about 200,238 (297)

Somatic Mutation Trajectories Define Prognostically Distinct Subtypes and Shape the Tumor Microenvironment in Gastric Cancer. [PDF]

Genes (Basel)
Shen Y, Pang H, Liu H, Ma P, Liu M, Li Y, Wang Q, Xie X, Zhang X, Zhao Y.   +9 more
europepmc   +1 more source

CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao, Rong Li, Yu‐Xiang Jiao, Kai Ma, Hong‐Qi Yang, Zheng‐Yu Sun, Jie‐Wen Zhang, Shuai Chen   +7 more
wiley   +1 more source

Somatic mutation and selection at population scale. [PDF]

Nature
Lawson ARJ, Abascal F, Nicola PA, Lensing SV, Roberts AL, Kalantzis G, Baez-Ortega A, Brzozowska N, El-Sayed Moustafa JS, Vaitkute D, Jakupovic B, Nessa A, Wadge S, Österdahl MF, Paterson AL, Rassl DM, Alcantara RE, O'Neill L, Widaa S, Austin-Guest S, Neville MDC, Przybilla MJ, Cheng W, Morra M, Sykes L, Mayho M, Müller-Sienerth N, Williams N, Alexander D, Harvey LMR, Clarke T, Byrne A, Blundell JR, Young MD, Mahbubani KTA, Saeb-Parsy K, Martin HC, Stratton MR, Campbell PJ, Rahbari R, Small KS, Martincorena I.   +41 more
europepmc   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Nanorate sequencing reveals the <i>Arabidopsis</i> somatic mutation landscape. [PDF]

Proc Natl Acad Sci U S A
Meyer CA, Nelms B, Schmitz RJ.
europepmc   +1 more source

ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan, Yan Jiang, Yuxuan Yong, Tianshuo Zhang, Niannian Zhang, Qianqian Zeng, Xue Gong, Li Meng, Fangfang Bi, Yongmin Liu   +9 more
wiley   +1 more source

Genesis of ancestral haplotypes: RNA modifications and reverse transcription–mediated polymorphisms

, 2011
Understanding the genesis of the block haplotype structure of the genome is a major challenge. With the completion of the sequencing of the Human Genome and the initiation of the HapMap project the concept that the chromosomes of the mammalian genome are
Stewart, B.J., Carnegie, P., Pain, G.N., Dawkins, R.L., Steele, E.J., Williamson, J.F., Lindley, R.A., Millman, J.A., Lester, S.   +8 more
core  

A novel activating somatic mutation in EPAS1, coding for HIF-2α, in a patient with a paraganglioma and sickle cell disease. [PDF]

Arch Endocrinol Metab
Shekhda KM, Iyer R, Robledo M, Nara V, Luong TV, Caplin M, Grossman AB.   +6 more
europepmc   +1 more source

Longitudinal Assessment of Biomarkers in ALS: Discriminative Biomarkers for Disease Progression and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To assess the association and discriminative performance of serum biomarkers with clinical disease progression and survival in patients with amyotrophic lateral sclerosis (ALS). Methods This retrospective study, conducted at Houston Methodist Hospital, Houston, TX, used longitudinal serum samples collected between January 2018 and ...
David R. Beers, Yueh‐Yun Lin, Jason R. Thonhoff, Aaron D. Thome, Alireza Faridar, Weihua Zhao, Shixiang Wen, Stanley H. Appel   +7 more
wiley   +1 more source

Reconstructing the lifelong history of cells and tissues via somatic mutation analysis. [PDF]

Cell Mol Life Sci
Faienza S, Margaria JP, Franco I.
europepmc   +1 more source