Literature DB >> 30850045

What's New in Genetic Skin Diseases.

Callie R Hill1, Amy Theos2.   

Abstract

The discoveries of new genes underlying genetic skin diseases have occurred at a rapid pace, supported by advances in DNA sequencing technologies. These discoveries have translated to an improved understanding of disease mechanisms at a molecular level and identified new therapeutic options based on molecular targets. This article highlights just a few of these recent discoveries for a diverse group of skin diseases, including tuberous sclerosis complex, ichthyoses, overgrowth syndromes, interferonopathies, and basal cell nevus syndrome, and how this has translated into novel targeted therapies and improved patient care.
Copyright © 2018 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Basal cell nevus syndrome; Congenital ichthyoses; Genodermatoses; Interferonopathies; Next-generation sequencing; PIK3CA-related overgrowth spectrum; Targeted therapeutics; Tuberous sclerosis complex

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Year:  2019        PMID: 30850045     DOI: 10.1016/j.det.2018.11.004

Source DB:  PubMed          Journal:  Dermatol Clin        ISSN: 0733-8635            Impact factor:   3.478


  2 in total

1.  Introduction to phacomatoses (neurocutaneous disorders) in childhood.

Authors:  Martino Ruggieri; Agata Polizzi; Gioacchino Paolo Marceca; Stefano Catanzaro; Andrea D Praticò; Concezio Di Rocco
Journal:  Childs Nerv Syst       Date:  2020-09-17       Impact factor: 1.475

2.  DNA Repair Gene Polymorphisms and Chromosomal Aberrations in Exposed Populations.

Authors:  Yasmeen Niazi; Hauke Thomsen; Bozena Smolkova; Ludmila Vodickova; Sona Vodenkova; Michal Kroupa; Veronika Vymetalkova; Alena Kazimirova; Magdalena Barancokova; Katarina Volkovova; Marta Staruchova; Per Hoffmann; Markus M Nöthen; Maria Dusinska; Ludovit Musak; Pavel Vodicka; Kari Hemminki; Asta Försti
Journal:  Front Genet       Date:  2021-06-16       Impact factor: 4.599

  2 in total

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