Results 181 to 190 of about 3,275,705 (300)

GENETIC SPECTRUM OF NOONAN SYNDROME IN PEDIATRIC POPULATION

Noonan syndrome (NS) is an autosomal dominant hereditary disorder with a prevalence of 1:1000 to 1:2500 live births. First described in 1963 by pediatric cardiologist Jacqueline Noonan, this syndrome is classified among RASopathies which arise from ...
Sarajlija, Adrijan, Gašić, Vladimir, Alimpić, Biljana, Pavlović, Sonja, Ilić, Nikola, Krasić, Staša, Vukomanović, Vladislav, Krstić, Jovana   +7 more
core  

Genetic Heterogeneity of Inborn Errors of Immunity Revealed by Whole-Genome Sequencing: Insights from a Russian Patient Cohort. [PDF]

Int J Mol Sci
Petrusenko Y, Savin T, Sedykh A, Chekanov N, Klimuk E, Ostankova Y, Kuznetsova R, Chernyshova A, Milichkina A, Totolian A, Severinov K.   +10 more
europepmc   +1 more source

Overcoming platinum resistance by the disulfiram metabolite CuET in novel preclinical models of human carcinomas

Molecular Oncology, EarlyView.
Cisplatin‐resistant cancer cells survive DNA‐damaging platinum‐based treatment yet remain sensitive to CuET‐induced proteotoxic stress. The distinct mechanism of action allows CuET to overcome and eliminate cisplatin‐resistant tumour cells, unless highly expressed metallothioneins (MTs) interfere with CuET, thereby highlighting MT levels as candidate ...
Stefanos Arampatzis, Tereza Buchtová, Jirina Bartkova, Marie Lund Bay, Christoffer Lynge Halvorsen, Zuzana Machacova, Zdenek Skrott, Martin Mistrik, Ekaterina Dulina, Miguel Andujar‐Sanchez, Estrid Høgdall, Tine Henrichsen Schnack, Claus Høgdall, Berit Jul Mosgaard, Marie Boennelycke, Jacob Brink Laursen, Allan Jensen, Susanne K. Kjær, Tuula Kallunki, Robert Strauss, Jiri Bartek   +20 more
wiley   +1 more source

Genetic heterogeneity affects the risk of incident depression, comorbidity, and response to environment: A prospective trajectory study. [PDF]

Psychol Med
Pan C, Cheng S, Qi X, Cheng B, Feng J, Kang M, Liu L, Yang X, Wen Y, Jia Y, Liu H, Zhang F.   +11 more
europepmc   +1 more source

An outer membrane vesicle‐associated two‐track model for enterotoxigenic Bacteroides fragilis oncogenesis

Molecular Oncology, EarlyView.
Enterotoxigenic Bacteroides fragilis is a gut bacterium linked to bowel cancer. We propose that its toxin acts along two routes: at the cell surface, cutting the adhesion protein E‐cadherin and triggering inflammation; and inside the cell, delivered by bacterial vesicles, switching on NOD1 and cancer stem cell programs.
Kangchan Choi, Sang‐Hyeon Yoo, Ki‐Jong Rhee   +2 more
wiley   +1 more source

Clinico-genetic heterogeneity in Pakistani families affected with muscular dystrophies. [PDF]

Mol Biol Rep
Ahmad R, Hashmi MA, Ullah A, Rehman UU, Naeem M, Houlden H.   +5 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

Signals within Complexity: Diabetes Genetic Heterogeneity and Clinical Outcomes in CKD. [PDF]

Clin J Am Soc Nephrol
Wang K, Wang X.
europepmc   +1 more source

Single‐molecule DNA flow‐stretch assays for high‐throughput DNA–protein interaction studies

FEBS Open Bio, EarlyView.
We describe an optimised single‐molecule DNA flow‐stretch assay that visualises DNA–protein interactions in real time. Linear DNA fragments are tethered to a surface and stretched by buffer flow for fluorescence imaging. Using λ and φX174 DNA, this protocol enhances reproducibility and accessibility, providing a versatile approach for studying diverse ...
Ayush Kumar Ganguli, Mohammad Nour Alsamsam, Ugnė Bagdonaitė, Van Truc Vu, Chun‐Jen Huang, Polina Kuzhir, Mindaugas Zaremba, Aurimas Kopūstas, Marijonas Tutkus   +8 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