Results 101 to 110 of about 864,921 (260)

Intrapatient tumour heterogeneity and clonal evolution in an autopsy study of metastatic salivary gland cancer

Molecular Oncology, EarlyView.
Tumour heterogeneity and clonal evolution of metastatic salivary gland cancer were evaluated in two patients with adenoid carcinoma and one patient with myoepithelial carcinoma. Radiology‐guided autopsy enabled multi‐region sampling (total samples n = 149), followed by whole‐genome sequencing and phylogenetic reconstruction (17 tumour samples, 4–7 per ...
Gerben Lassche, Niels J. van Ruitenbeek, Charlotte Adang, Luke O'Gorman, Pui Yuen Lee, Willemijn M. Klein, Adriana C. H. van Engen‐van Grunsven, Jack A. Schalken, Sander Bervoets, Gerald W. Verhaegh, Carla M. L. van Herpen   +10 more
wiley   +1 more source

Polygenic risk score trend and new variants on chromosome 1 are associated with male gout in genome-wide association study. [PDF]

Arthritis Res Ther, 2022
Chang YS, Lin CY, Liu TY, Huang CM, Chung CC, Chen YC, Tsai FJ, Chang JG, Chang SJ.   +8 more
europepmc   +1 more source

Automated FRAP microscopy for high‐throughput analysis of protein dynamics in chromatin organization and transcription

FEBS Open Bio, EarlyView.
RoboMic is an automated confocal microscopy pipeline for high‐throughput functional imaging in living cells. Demonstrated with fluorescence recovery after photobleaching (FRAP), it integrates AI‐driven nuclear segmentation, ROI selection, bleaching, and analysis.
Selçuk Yavuz, Bart Geverts, Johan A. Slotman, Andrea Sacchetti, Stefan Prekovic, Martin E. van Royen, Adriaan B. Houtsmuller   +6 more
wiley   +1 more source

Case report: Disease phenotype associated with simultaneous biallelic mutations in ABCA4 and USH2A due to uniparental disomy of chromosome 1. [PDF]

Front Genet, 2022
Villafuerte-De la Cruz R, Chacon-Camacho OF, Rodriguez-Martinez AC, Xilotl-De Jesus N, Arce-Gonzalez R, Rodriguez-De la Torre C, Valdez-Garcia JE, Rojas-Martinez A, Zenteno JC.   +8 more
europepmc   +1 more source

Identifying transcription factors controlling the basal expression of human MRP4 highlights a substantial role for Sp1

FEBS Open Bio, EarlyView.
The MRP4 transporter exports several drugs and signaling molecules. Here, we identified key promoter elements regulating basal MRP4 expression. Using reporter assays, we defined a conserved region with essential Sp1 and contributory Ets sites, which controlled basal MRP4 expression.
Debora Singer, Angelique Kragl, Katrin Ziems, Juliane Glaubitz, Sophie Grammbauer, Susanne Hildebrandt, Mladen V. Tzvetkov, Gabriele Jedlitschky   +7 more
wiley   +1 more source

Derivation and characterization of retinal pigment epithelium from urine‐derived iPSCs

FEBS Open Bio, EarlyView.
Age‐related macular degeneration causes vision loss via RPE dysfunction and loss. Traditional iPSC therapies rely on invasive biopsies, limiting scalability. Here, we utilize urine‐derived stem cells as an accessible source to generate u‐iPSCs, successfully differentiated into pigmented RPE. This “Urine‐to‐Retina” platform provides a promising path for
Daniella Beiner, Hainan Zhu, Carol Christine Bosholm, Heuy‐Ching Wang, Tracy Criswell, Anthony Atala, Jian‐Xing Ma, Yuanyuan Zhang   +7 more
wiley   +1 more source

A yeast model of 5‐oxoproline accumulation reveals a general toleration to 5‐oxoproline

FEBS Open Bio, EarlyView.
Using a yeast model, we show that even high accumulation of 5‐oxoproline causes only mild cellular stress and does not trigger oxidative stress. Instead, cells adapt by activating efflux pumps and diverse protective pathways, suggesting that previously proposed harmful effects of 5‐oxoproline may arise from indirect metabolic imbalances rather than the
Pratiksha Dubey, Vaishnavi Sanjayan, Praveen Singh, Shantanu Sengupta, Anand Kumar Bachhawat   +4 more
wiley   +1 more source

RoundMi: A quantitative method to analyze mitochondrial morphology in mitotic cells

FEBS Open Bio, EarlyView.
RoundMi is a workflow for rapid analysis of mitochondrial morphology in mitotic cells. By combining adaptive preprocessing with automated segmentation and quantification, it enables accurate measurements from single focal plane images, reducing acquisition time and computational demands while remaining compatible with high‐throughput fixed and live ...
Elmira Parvindokht Bararpour, Christine Volmert, Valentina Piano   +2 more
wiley   +1 more source

PARK7-Related Early Onset Parkinson Disease in the Setting of Complete Uniparental Isodisomy of Chromosome 1. [PDF]

Neurol Genet, 2021
Xiao C, Markello T, Zein WM, Bishop R, Groden C, Gahl W, Toro C.   +6 more
europepmc   +1 more source

The crystal structure of the Borrelia burgdorferi nicotinamidase BBE22 resolves a long‐standing annotation error

FEBS Open Bio, EarlyView.
The crystal structure of Borrelia burgdorferi nicotinamidase (PncA/BBE22) reveals the correct full‐length protein initiated from a non‐canonical AUU start codon. The structure validates previous biochemical findings and resolves a long‐standing annotation error, demonstrating that the truncated database sequence is structurally incompatible with the ...
Kalvis Brangulis
wiley   +1 more source