Results 281 to 290 of about 299,286 (332)

Single-Cell Genomics and Somatic Variation in Circulating and Cardiac Resident Cells. [PDF]

Circ Res
Hilal N, Arava M, Choudhury S.
europepmc   +1 more source

Variably Protease‐Sensitive Prionopathy: Two New Cases With Motor Neuron‐Dementia Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We describe two patients with variably protease‐sensitive prionopathy (VPSPr) who developed progressive upper motor neuron symptoms, insomnia, behavioral and cognitive decline, compatible with primary lateral sclerosis associated with frontotemporal dementia (FTD).
María Elena Erro, María Victoria Zelaya, Hasier Eraña, Javier Sánchez Ruiz de Gordoa, Fermín García‐Amigot, Anika Simonovska‐Serra, María Cristina Caballero, Isidre Ferrer, Ellen Gelpi, Ivonne Jericó, Joaquín Castilla   +10 more
wiley   +1 more source

StarSignDNA: mutation-to-signature attribution for accurate representation of mutational processes in low-mutation contexts. [PDF]

NAR Genom Bioinform
Bope CD, Kalyanasundaram S, Rand KD, Nakken S, Lingjærde OC, Hovig E.   +5 more
europepmc   +1 more source

Study of Spontaneous and X-Ray Induced Germ Cell Mutations in Mice by 2-D DNA Gel Analysis : I. Mutations Involving Small Changes in Repetitive Sequences

, 2000
Jun‐ichi Asakawa, Mieko Kodaira, Hiroaki Katayama, Sachiyo Funamoto, Donald A. Pierce, Dale L. Preston, Nori Nakamura   +6 more
openalex   +1 more source

Shared Genetic Effects and Antagonistic Pleiotropy Between Multiple Sclerosis and Common Cancers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Epidemiologic studies have reported inconsistent altered cancer risk in individuals with multiple sclerosis (MS). Factors such as immune dysregulation, comorbidities, and disease‐modifying therapies may contribute to this variability.
Asli Buyukkurt, Marius Ygonia, Ali Manouchehrinia, Philippe Lefrançois, Ingrid Kockum, Adil Harroud   +5 more
wiley   +1 more source

Clinical utility of 'Shaken' biopsies for whole-genome sequencing. [PDF]

J Clin Pathol
Nelan R, Mijuskovic M, Hughes M, Becq J, Kingsbury Z, Tsogka E, He M, Vucenovic D, Craig C, Elgar G, Levey P, Suaris T, Walsh E, Ross M, Jones JL.   +14 more
europepmc   +1 more source

Unraveling the Molecular Mechanisms of Glioma Recurrence: A Study Integrating Single‐Cell and Spatial Transcriptomics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Glioma recurrence severely impacts patient prognosis, with current treatments showing limited efficacy. Traditional methods struggle to analyze recurrence mechanisms due to challenges in assessing tumor heterogeneity, spatial dynamics, and gene networks.
Lei Qiu, Yinjiao Fei, Jiaxuan Ding, Kexin Shi, Jinyan Luo, Yuchen Zhu, Xingjian Sun, Gefei Jiang, Yuandong Cao, Weilin Xu, Shu Zhou   +10 more
wiley   +1 more source

APOBEC3A drives deaminase mutagenesis in human gastric epithelium. [PDF]

Genome Res
An Y, Lee JH, Lim J, Youk J, Park S, Park JH, Yi K, Kim T, Nam CH, Lee WH, Oh SA, Bae YJ, Klompstra TM, Lee H, Han J, Lee J, Park JW, Kim JH, Kim H, Snippert H, Koo BK, Ju YS.   +21 more
europepmc   +1 more source

Monocyte LOXHD1 and RHOB Expression Predictive of Progressive Systemic Sclerosis–Associated Interstitial Lung Disease

Arthritis Care &Research, EarlyView.
Objective A leading cause of death among patients with scleroderma (SSc), interstitial lung disease (ILD) remains challenging to prognosticate. The discovery of biomarkers that accurately determine which patients would benefit from close monitoring and aggressive therapy would be an essential clinical tool.
Cristina M. Padilla, Robert Lafyatis, Kevin F. Gibson, Christina Morse, Eleanor Valenzi, Xiaoping Chen, Xiaoyun Li, Yanwu Zhao, Yongseok Park, Dana Ascherman, Jonathan Minden, Robyn Domsic, Yingze Zhang, Daniel J. Kass   +13 more
wiley   +1 more source

CDKN2A homozygous deletions and TSC2 somatic mutations in metastatic pancreatic neuroendocrine tumors. [PDF]

NPJ Precis Oncol
Jesus TT, Ferrando L, Rodrigues L, Martins RS, Cardoso L, Lopes JM, Soares P, Da Cruz Paula A, Vinagre J.   +8 more
europepmc   +1 more source