Results 41 to 50 of about 37,392 (236)

MITF maintains genome stability in nonmelanocyte lineages

Molecular Oncology, EarlyView.
MITF is essential for melanocyte survival and acts as an oncogene in 10%–20% of melanomas. We show that MITF depletion causes genome instability in nonmelanocytic cells, leading to LATS2‐mediated P53 activation, cell cycle arrest, and apoptosis. This study highlights the role of MITF as a genome maintenance factor beyond the melanocyte lineage. Created
Drifa H. Gudmundsdottir, Adrián López García de Lomana, Thejus B. Venkatesh, Kritika Kirty, Snaevar Sigurdsson, Linda Vidarsdottir, Ramile Dilshat, Erla Sveinbjornsdottir, Snaedis Ragnarsdottir, Daniel H Magnusson, Maria R. Bustos, Eirikur Steingrimsson, Thorkell Gudjonsson, Stefan Sigurdsson   +13 more
wiley   +1 more source

Hereditary Pheochromocytoma as a Major Manifestation of von Hippel Lindau Disease (vHL) in Childhood: Long-term Follow-up of Five Patients with vHL from One Family

JCRPE
Von Hippel-Lindau disease (vHL) is a hereditary, autosomal dominant syndrome manifested by a predisposition to the occurrence of benign and malignant neoplasms.
Katarzyna Pasternak-Pietrzak, Agata Kozłowska, Elżbieta Moszczyńska   +2 more
doaj   +1 more source

Mendelian randomization case-control PheWAS in UK Biobank shows evidence of causality for smoking intensity in 28 distinct clinical conditions

EClinicalMedicine, 2020
Background: Smoking is one of the greatest threats to public health worldwide. We integrated phenome-wide association study (PheWAS) and Mendelian randomization (MR) approaches to explore causal effects of genetically predicted smoking intensity across ...
Catherine King, Anwar Mulugeta, Farhana Nabi, Robert Walton, Ang Zhou, Elina Hyppönen   +5 more
doaj   +1 more source

Hyperpigmented spots at fundus examination: a new ocular sign in Neurofibromatosis Type I

Orphanet Journal of Rare Diseases, 2021
Background Neurofibromatosis Type I (NF1), also termed von Recklinghausen disease, is a rare genetic disorder that is transmitted by autosomal dominant inheritance, with complete penetrance and variable expressivity.
Antonietta Moramarco, Fabiana Mallone, Marta Sacchetti, Luca Lucchino, Emanuele Miraglia, Vincenzo Roberti, Alessandro Lambiase, Sandra Giustini   +7 more
doaj   +1 more source

Negotiating in a Foreign Land: Understanding the Curious Interactions Between Intracellular Mitochondria and Internalized Nanoparticles

Advanced Materials Interfaces, EarlyView.
Therapeutic nano‐drug delivery systems interact with cellular mitochondria in a multitude of ways. While the complexity of such interactions disrupts the mitochondrial electron transport chain and increases reactive oxygen species production, thereby contributing to nanoparticle toxicity, they also present unique theranostic opportunities in diseases ...
Sourav Bhattacharjee
wiley   +1 more source

OCT-Angiography in Early Choroidal Melanoma and Choroidal Nevi

Oftalʹmologiâ, 2020
Purpose: To study the features of small choroidal melanoma and choroidal nevi angioarchitectonics using the optical coherence tomography angiography (OCTA).Patients and methods.
S. V. Saakyan, E. B. Myakoshina, M. R. Khlgatyan, N. V. Sklyarova   +3 more
doaj   +1 more source

Solid Harmonic Wavelet Bispectrum for Image Analysis

Advanced Science, EarlyView.
The Solid Harmonic Wavelet Bispectrum (SHWB), a rotation‐ and translation‐invariant descriptor that captures higher‐order (phase) correlations in signals, is introduced. Combining wavelet scattering, bispectral analysis, and group theory, SHWB achieves interpretable, data‐efficient representations and demonstrates competitive performance across texture,
Alex Brown, Mathilda Avirett‐Mackenzie, Carolin Villforth, Georgios Exarchakis   +3 more
wiley   +1 more source

Central retinal artery occlusion following embolization in juvenile nasopharyngeal angiofibroma: A case report [PDF]

Vojnosanitetski Pregled, 2018
Introduction. Juvenile nasopharyngeal angiofibromas are highly vascular, locally aggressive lesions, that affect male adolescents. The surgery is the treatment of choice, although it shows a strong propensity to bleed during surgical removal ...
Pantelić Jelica, Karadžić Jelena, Kovačević Igor, Bulatović Jelena   +3 more
doaj   +1 more source

Engineering Approaches to Modify Immunomodulatory Functions of Mesenchymal Stromal Cells (MSCs): Tissue Regeneration and Clinical Application

Advanced Science, EarlyView.
Mesenchymal stromal cells (MSCs) show promise for treating immune‐related disorders through immunomodulation and tissue regeneration. This review gives a brief overview of current clinical approval of MSC therapies. It also discussed how bioengineering, including genetic modification, biomaterial delivery, extracellular vesicles, and iPSC‐derived MSCs,
Sichen Yang, Kejia Li, Ning Wang, Zhen Li, Zhiyong Zhang, Rocky S. Tuan, Yangzi Jiang   +6 more
wiley   +1 more source

THE INCIDENCE AND STRUCTURE OF OPHTHALMOPATHOLOGY OF TUBALARS

Oftalʹmologiâ, 2017
673 Tubalars have been examined during the expeditions undertaken by the Institute staff. It was 67% of all ethnic groups, compactly living in the Altai Republic.
A. L. Onischenko, A. V. Kolbasko, M. A. Safronova   +2 more
doaj   +1 more source