Results 111 to 120 of about 79,516 (257)

DDX3X induces mesenchymal transition of endothelial cells by disrupting BMPR2 signaling

FEBS Open Bio, EarlyView.
Elevated DDX3X expression led to downregulation of BMPR2, a key regulator of endothelial homeostasis and function. Our co‐immunoprecipitation assays further demonstrated a molecular interaction between DDX3X and BMPR2. Notably, DDX3X promoted lysosomal degradation of BMPR2, thereby impairing its downstream signaling and facilitating endothelial‐to ...
Yu Zhang, Jing Wang, De‐Hui Qian, Yang‐Fan Lv, Tian‐Le Cheng, Da‐Peng Wang, Jing Zhang, Ye Fan   +7 more
wiley   +1 more source

Assessing genetic counseling efficiency with natural language processing. [PDF]

J Am Med Inform Assoc
Nguyen MH, Applegate CD, Murray B, Zirikly A, Tichnell C, Gordon C, Yanek LR, James CA, Taylor CO.   +8 more
europepmc   +1 more source

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

Genetic counseling of ventricular tachycardias

Anatolian Journal of Cardiology, 2021
Hande Kaymakçalan Çelebiler
doaj   +1 more source

Exploring the principles of logotherapy in genetic counseling: Enhancing decision-making, adaptation, and justice. [PDF]

J Genet Couns
Chanouha N, Chassevent A, Macnamara EF, Schaa K, Thoeny R, Tansey J.   +5 more
europepmc   +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

The state of genetic counseling supervision worldwide: Challenges, practices, and pathways for the future. [PDF]

J Genet Couns
Guimarães L, Ribeiro B, Henriques MR, Lemos MS, Paneque M.   +4 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

When generations meet: navigating nondisclosure preimplantation genetic testing for Huntington's disease

F&S Reports
Amber Kaplun, M.S., C.G.C.
doaj   +1 more source

Characterizing psychosocial assessments across genetic counseling sessions through qualitative content analysis. [PDF]

J Genet Couns
Ruiz K, Narain A, Nguyen TP, Pollard E, Joseph G, Moscarello T, Campion M, Reuter C.   +7 more
europepmc   +1 more source