Zobrazeno 1 - 10
of 458
pro vyhledávání: ''
Autor:
Mechthild Hatzfeld, Thomas M. Magin
Publikováno v:
Journal of Investigative Dermatology. 142:272-274
Single gene disorders are ideally suited to establish robust genotype‒phenotype correlations and provide excellent opportunities to understand molecular pathomechanisms with relevance to complex disorders. The observation that patients diagnosed wi
Autor:
Kristiina Vuori, Darren Finlay, Animesh Ray, Masanobu Komatsu, Anupama Sahoo, Ranjan J. Perera, John Marchica, Piyush Joshi, Bongyong Lee, Petrus R. de Jong, Fabiana I.A.L. Layng, Junko Sawada, Joseph Mazar, Sanjay Sahoo
Publikováno v:
J Invest Dermatol
MicroRNAs (miRs) are important posttranscriptional regulators of cell fate in both normal and disease states. miR-211 has previously been shown to be a direct regulator of metabolism in BRAFV600E-mutant melanoma cells in vitro. Here, we report that m
Autor:
Lauren S. Mohan, Lacey Kruse, Kevin P. White, Katherine Shi, Annette Wagner, Timothy Taxter, Bin Zhang, Yongzhan Zhang, Victor L. Quan, Nike Beaubier, Lihua Zou, Pedram Gerami
Publikováno v:
Journal of Investigative Dermatology. 140:1599-1608
The newest World Health Organization classification of skin tumors suggests the elimination of cases with BRAF and NRAS mutations from the categories of Spitz tumors (ST) and Spitz melanoma (SM). The objective of this study is to better characterize
Publikováno v:
J Invest Dermatol
To date, over 1000 melanocytic neoplasms, spanning all stages of tumorigenesis, have been sequenced, offering detailed views into their -omic landscapes. This has coincided with advances in genetic engineering technologies that allow molecular biolog
Publikováno v:
Journal of Investigative Dermatology. 140:2111-2113
Mohamad et al. (2020) describe loss-of-function mutations in SERPINA12 as a cause of diffuse, transgradient palmoplantar keratoderma (PPK). This disorder shares similar clinical features with other PPKs caused by protease overactivity, including eryt
Autor:
Richard A. Scolyer, Andrew J. Colebatch, Georgina V. Long, Felicity Newell, Alexander Dobrovic, Tom Witkowski, James S. Wilmott, Peter Johansson, Graham J. Mann, Robyn P. M. Saw, Stephen H. Kazakoff, Nicola Waddell, Jonathan R. Stretch, John F. Thompson, Peter M. Ferguson, Nicholas K. Hayward, John V. Pearson, Grant A. McArthur
Publikováno v:
Journal of Investigative Dermatology. 139:1762-1768
The benign melanocytic nevus is the most common tumor in humans and rarely transforms into cutaneous melanoma. Elucidation of the nevus genome is required to better understand the molecular steps of progression to melanoma. We performed whole genome
Autor:
Xiannian Zhang, Zhilong Yu, Yuhong Pang, Yanyi Huang, Chunmei Li, Yang Peng, Hang Li, Angela Ruohao Wu, Qianxi Li
Publikováno v:
Journal of Investigative Dermatology. 139:1526-1534
Acral melanoma (AM) is an extremely aggressive subtype of melanoma that is prevalent in eastern Asia. AM exhibits high intertumoral and intratumoral heterogeneities with poor prognosis. To associate the genomic heterogeneities with phenotypic traits
Publikováno v:
J Invest Dermatol
Loss-of-function mutations in the ABCC6 gene cause pseudoxanthoma elasticum and type 2 generalized arterial calcification of infancy, heritable ectopic mineralization disorders without effective treatment. ABCC6 encodes the putative efflux transporte
Autor:
Dulce Lima Cunha, Verena Moosbrugger-Martinz, Sarah Hedtrich, Guy Yealland, Sari Thomforde, Roswitha Plank, Patrick Graff, Marcelo Calderón, Enrico Miceli, Hans Christian Hennies, Katja Martina Eckl, Robert Gruber
Publikováno v:
Journal of Investigative Dermatology. 139:1191-1195
Autor:
Mitchell S. Stark
Publikováno v:
Journal of Investigative Dermatology. 139:756-759
Large-giant congenital melanocytic nevi have been well characterized clinically, yet questions remain about the heterogenous phenotypes observed. Martins da Silva et al. (2018) highlight the genotypic diversity between "classic" and "spilus-like" con