Results 211 to 220 of about 3,117,325 (331)

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

FEBS Open Bio, EarlyView.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig, Swanhild Lohse, Sara Elahi, Nils Hartmann, Stefanie Deckert, Shutian Si, Alexander Desuki, Anja Harder   +7 more
wiley   +1 more source

ATP13A2 is involved in intracellular polyamine transport in lung epithelial cells

FEBS Open Bio, EarlyView.
Spermidine transport in lung epithelial cells involves the polyamine transporter ATP13A2. Cell proliferation is associated with the upregulation of ATP13A2. Polyamines are present in all living cells and are implicated in various crucial cellular processes such as proliferation, apoptosis and autophagy.
Yuta Hatori, Kohei Kawabata, Takanori Kubo, Takeo Kitazawa, Sae Kanai, Madoka Iwashita, Ami Hayashi, Hiroyuki Nishi, Mikihisa Takano   +8 more
wiley   +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

Using mixed methods for genetic counseling research. [PDF]

J Genet Couns
Borle K, Austin JJ.
europepmc   +1 more source

Genetic counseling in sudden arrhythmia death syndrome : the science and the art

, 2013
Anthony Liu Pak-yin
openalex   +1 more source

Evaluation of in vitro toxicity of common phytochemicals included in weight loss supplements using 1H NMR spectroscopy

FEBS Open Bio, EarlyView.
We investigated the toxicity of 12 active compounds commonly found in herbal weight loss supplements (WLS) using human liver and colon cell models. Epigallocatechin‐3‐gallate was the only compound showing significant toxicity. Metabolic profiling revealed protein degradation, disrupted energy and lipid metabolism suggesting that the inclusion of EGCG ...
Emily C. Davies, Garth L. Maker, Ian F. Musgrave, Samantha Lodge   +3 more
wiley   +1 more source

Genetic Counseling Facilitates Family Communication of Genetic Risks. [PDF]

Acta Med Philipp
Alcausin MMLB.
europepmc   +1 more source

Elements of genetic counseling for inborn errors of metabolism

, 2019
Natalie Beck, Carolyn Applegate
openalex   +2 more sources

Tumor‐stromal crosstalk and macrophage enrichment are associated with chemotherapy response in bladder cancer

FEBS Open Bio, EarlyView.
Chemoresistance in bladder cancer: Macrophage recruitment associated with CXCL1, CXCL5 and CXCL8 expression is characteristic of Gemcitabine/Cisplatin (Gem/Cis) Non‐Responder tumors (right side) while Responder tumors did not show substantial tumor‐stromal crosstalk (left side). All biological icons are attributed to Bioicons: carcinoma, cancerous‐cell‐
Sophie Leypold, Janik Riese, Lancelot Seillier, Mark Kühnel, Julia Pannhausen, Charlotte O. J. Fröhlich, Christian Martin, Peter Boor, Matthias Saar, Danny D. Jonigk, Nadine T. Gaisa, Michael Rose   +11 more
wiley   +1 more source

The Art and Science of Genetic Counseling in Nephrology. [PDF]

Kidney360
Bogyo K, Vena N, Milo Rasouly H.
europepmc   +1 more source