Results 161 to 170 of about 1,593,998 (268)

Human induced pluripotent stem cell‐derived cortical neurons from monozygotic twins with the Gαo1K278del mutation reveal disease mechanisms relevant to GNAO1‐related encephalopathy

Epilepsia, EarlyView.
Abstract Objective Rare de novo variants in GNAO1 cause a severe neurodevelopmental disorder characterized by a heterogenous display of early onset epilepsy, movement abnormalities, and global developmental delay. More than 100 pathogenic variants in GNAO1 have been identified and categorized into four groups according to their protein features.
Maria Sáez González, Kes Kloosterhuis, Jeroen Vreijling, Hailiang Mei, Tom P. Hellings, Davide Pirolli, Anine H. Stam, Arn M. J. M. van den Maagdenberg, Vivi M. Heine, Jean‐Philippe Frimat, Laura A. van de Pol, Frank Baas, Harald M. M. Mikkers   +12 more
wiley   +1 more source

Peer Review #1 of "Deconvoluting simulated metagenomes: the performance of hard- and soft- clustering algorithms applied to metagenomic chromosome conformation capture (3C) (v0.1)"

, 2016
  +6 more sources

Bridging the gap: advanced chromatin biotechnologies for circadian epigenomic profiling in head and neck squamous cell carcinoma. [PDF]

Clin Epigenetics
Khan S, Said R, Eskiw C, Thuot F, Guay B, Papagerakis P, Papagerakis S.   +6 more
europepmc   +1 more source

Illuminating point‐of‐care diagnostics with aggregation‐induced emission biosensors

FlexMat, EarlyView.
This review highlights the application of aggregation‐induced emission luminogens (AIEgens) in point‐of‐care (POC) diagnostics for disease biomarker detection. It systematically examines a range of biosensing platforms, including lateral flow immunoassays, microfluidic chips, and electrochemiluminescence sensors, alongside their utility in detecting ...
Danni Hu, Yubing Hu, Dong Wang, Ben Zhong Tang   +3 more
wiley   +1 more source

A translocation within the Ogataea species complex alters local subtelomeric chromatin while maintaining overall genome organization. [PDF]

G3 (Bethesda)
Lundberg TJ, Lande NM, Tourevski D, Figueroa R, Hanson SJ, Klocko AD.   +5 more
europepmc   +1 more source

Gene signatures characterizing driver mutations in lung squamous carcinoma are predictive of the progression of pre‐cancer lesions

International Journal of Cancer, EarlyView.
What's New? Lung squamous cell carcinoma (LUSC) is more aggressive than lung adenocarcinoma, and is most often diagnosed at an advanced stage. Here, the authors evaluated gene expression data from LUSC tumors and came up with gene signatures for 34 genetic abnormalities whose expression changes throughout different precancerous stages. Several of these
Yupei Lin, Venugopalareddy Mekala, Jianrong Li, Xiang Wang, Muhammad Aminu, Jia Wu, Jianjun Zhang, Robert Taylor Ripley, Christopher I. Amos, Chao Cheng   +9 more
wiley   +1 more source

Disentangling polymer confinement from specific-folding interactions reveals the drivers of Escherichia coli chromosome organization. [PDF]

Nucleic Acids Res
Delafrouz P, Nesterova T, Harris FE, Farooq H, Du L, Liu J, Ma A, Xiao J, Liang J.   +8 more
europepmc   +1 more source

Long‐Read Pan‐Cancer Transcriptomics Unravel Distinct Alteration Trends Between Gene and Isoform Expression in Tumorigenesis

iMetaMed, EarlyView.
Long‐read profiling of 144 tumor‐normal pairs identifies isoform‐level cancer dysregulation independent of gene changes. Our scoring system prioritizes isoform‐driven prognostic genes across cancers. ABSTRACT Tumorigenesis involves transcriptomic alterations at both gene and isoform levels.
Yuying Ding, Bo Wu, Dan Zhou, Qiang Li, Dingru Li, Mengyun Cai, Zhiyan Chen, Caimei Zhong, ChuanLe Xiao, Yuhua Deng   +9 more
wiley   +1 more source

AI-assisted Cryo-ET workflow for 3D visualization of chromatin during cellular differentiation. [PDF]

Biochem Biophys Rep
Watt J, Roth C, Huber I, Hall AS, Singh MK, Micheva-Viteva S, Sanbonmatsu KY, Starkenburg SR, Steadman CR.   +8 more
europepmc   +1 more source

Pollen Morphology of Crucianella L. (Rubiaceae) Based on Light and Scanning Electron Microscope Data and Implications for Taxonomy

Microscopy Research and Technique, EarlyView.
This study provides the palynological analysis of 12 Crucianella L. taxa using LM and SEM. Variations in pollen size, aperture number, and exine ornamentation were identified as key traits, demonstrating their taxonomic value for distinguishing closely related species and subspecies within the genus. ABSTRACT Crucianella L.
Sevcan Celenk, Zelal Kücük, Gülşah Bağcıvan, Ruziye Daşkın   +3 more
wiley   +1 more source