Results 101 to 110 of about 73,036 (190)

Acquired brachial cutaneous dyschromatosis

JAAD Case Reports, 2023
Emily Everdell, BA, Thomas Denize, MD, Hensin Tsao, MD, PhD   +2 more
doaj   +1 more source

Gene Panel Analysis Reveals Overlapping Genetic Causes of Inherited Cataracts and Other Ocular Phenotypes in Bulgarian Patients

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
We have identified 4 pathogenic/likely pathogenic changes and 2 variants of uncertain significance, 3 of which were novel. The identification of disease‐causing variants in the CRYAA, MYH9, RP2, and CLNC1 genes allowed us to establish an accurate genetic diagnosis of inherited cataract and to describe overlapping clinical phenotypes.
Kristiyana Vitanova, Kunka Kamenarova, Nevyana Veleva‐Krasteva, Kalina Mihova, Yoanna Kaneva, Reni Tzveova, Martin Georgiev, Delyan Georgiev, Ivanka Dimova, Alexander Oscar, Radka Kaneva   +10 more
wiley   +1 more source

The microphthalmia-associated transcription factor Mitf interacts with beta-catenin to determine target gene expression. [PDF]

, 2006
Commitment to the melanocyte lineage is characterized by the onset of expression of the microphthalmia-associated transcription factor (Mitf). This transcription factor plays a fundamental role in melanocyte development and maintenance and seems to be ...
Bruser, K., Steingrimsson, E., Hallsson, J. H., J. H. Hallsson, Gunnarsson, G. J., A. Schepsky, Hecht, Andreas, Goodall, J., Goding, CR, Schepsky, A, Goding, C. R., G. J. Gunnarsson, Hallsson, JH, Hecht, A, J. Goodall, A. Hecht, C. R. Goding, E. Steingrimsson, Goodall, J, Steingrimsson, E, Bruser, K, Gunnarsson, GJ, Schepsky, A., K. Bruser   +23 more
core   +1 more source

Heme Oxygenase‐1 Differentially Controls Pigmentation in Physiological and Pathological Melanogenesis

Pigment Cell &Melanoma Research, Volume 39, Issue 4, July 2026.
HO‐1 acts as a context‐dependent regulator of pigmentation, enhancing tyrosinase activity and melanin accumulation in melanoma cells while having no detectable effect on pigmentation in the non‐malignant melanocyte models tested. ABSTRACT Melanogenesis is a defining feature of melanocyte biology and influences melanoma pathogenesis; however, tumor ...
Agnieszka Seretny, Grażyna Jamróg, Jacek Stępniewski, Maciej Cieśla, Witold Nowak, Rościsław Krutyhołowa, Martin Petrovic, Anna Tejchman‐Skrzyszewska, Milena Mazan, Halina Waś, Wolfgang Weninger, Matthias Farlik, Alicja Józkowicz, Anna Kusienicka   +13 more
wiley   +1 more source

Common variants of the TCF7L2 gene are associated with increased risk of type 2 diabetes mellitus in a UK-resident South Asian population [PDF]

, 2008
Background Recent studies have implicated variants of the transcription factor 7-like 2 (TCF7L2) gene in genetic susceptibility to type 2 diabetes mellitus in several different populations. The aim of this study was to determine whether variants of this
Barnett Anthony H, Barnett, Anthony, Britten, Abigail C., Bellary, S, Barnett, Anthony H., Anthony H Barnett, Kumar Sudhesh, Britten, Abigail, Sudhesh Kumar, Rees, Simon D., Rees, Simon, Kelly, M. Ann, Kelly, Marilyn, Britten Abigail C, Kelly M Ann, Bellary, Srikanth, Rees Simon D, Srikanth Bellary, Abigail C Britten, J Paul O'Hare, Bellary Srikanth, O'Hare, JP, Kumar, Sudhesh, Simon D Rees, Barnett, A. H., O'Hare J Paul, Kumar, S, O'Hare, J. Paul, M Ann Kelly   +28 more
core   +1 more source

RRAGD p.(Ser76Leu) Variant Causes Dysregulated Expression of Muscle Development and Cytoskeleton Genes in Cardiomyocytes

The FASEB Journal, Volume 40, Issue 12, 30 June 2026.
Under normal conditions, RagD and mTORC1 respond to amino acid changes. Upon stimulation, active mTORC1 phosphorylates S6K, 4E‐BP1, and TFEB. In response to starvation, mTORC1 is inactive. Our data indicate that the RRAGD p.(Ser76Leu) variant maintains the phosphorylation of mTORC1 targets during starvation in T‐REx HeLa cells.
Anastasia Adella, Sara B. van Katwijk, Pieter A. Leermakers, Willem B. van Ham, Hesther de Ruiter, Judita Ilgutytė, Suzanne Hendrickx, Levi Nijland, Teun P. de Boer, Eva van Rooij, Joost G. J. Hoenderop, Jeroen H. F. de Baaij   +11 more
wiley   +1 more source

A UV-Independent Topical Small-Molecule Approach for Melanin Production in Human Skin

Cell Reports, 2017
The presence of dark melanin (eumelanin) within human epidermis represents one of the strongest predictors of low skin cancer risk. Topical rescue of eumelanin synthesis, previously achieved in “redhaired” Mc1r-deficient mice, demonstrated significant ...
Nisma Mujahid, Yanke Liang, Ryo Murakami, Hwan Geun Choi, Allison S. Dobry, Jinhua Wang, Yusuke Suita, Qing Yu Weng, Jennifer Allouche, Lajos V. Kemeny, Andrea L. Hermann, Elisabeth M. Roider, Nathanael S. Gray, David E. Fisher   +13 more
doaj   +1 more source

Functional interaction between the ZO-1-interacting transcription factor ZONAB/DbpA and the RNA processing factor symplekin [PDF]

, 2006
Epithelial tight junctions participate in the regulation of gene expression by controlling the activity of transcription factors that can interact with junctional components.
Choquet, A, Balda, MS, Hollande, F, Matter, K, Tsapara, A, Kavanagh, E, Buchert, M   +6 more
core  

Transcriptional Regulation of the Beta-Synuclein 5′-Promoter Metal Response Element by Metal Transcription Factor-1 [PDF]

, 2011
The progression of many human neurodegenerative disorders is associated with an accumulation of alpha-synuclein. Alpha-synuclein belongs to the homologous synuclein family, which includes beta-synuclein.
Patrick C McHugh, David R. Brown, Josephine A. Wright, McHugh, Patrick C, Wright, Josephine A., Josephine A Wright, Wright Josephine A., Brown David R., David R Brown, McHugh Patrick C., Brown, David R., Patrick C. McHugh   +11 more
core   +1 more source

Microenvironment-Driven Dynamic Heterogeneity and Phenotypic Plasticity as a Mechanism of Melanoma Therapy Resistance

Frontiers in Oncology, 2018
Drug resistance constitutes a major challenge in designing melanoma therapies. Microenvironment-driven tumor heterogeneity and plasticity play a key role in this phenomenon. Melanoma is highly heterogeneous with diverse genomic alterations and expression
Farzana Ahmed, Nikolas K. Haass, Nikolas K. Haass   +2 more
doaj   +1 more source