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How I Treat: STAT3 hyper IgE syndrome. [PDF]

open access: yesJ Hum Immun
Murray CE   +3 more
europepmc   +1 more source

Primary atopic disorders: Monogenic insights into immunity. [PDF]

open access: yesJ Hum Immun
Modi BP   +7 more
europepmc   +1 more source
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Molecular advances in genetic skin diseases

Current Opinion in Pediatrics, 2002
The genes for several genetic skin diseases have been identified in recent years. This development improves diagnostic capabilities and genetic counseling, and investigators can now turn to the molecular mechanisms involved in the pathogenesis of these diseases.
Dawn H, Siegel, Renee, Howard
openaire   +2 more sources

Genetic skin diseases

Current Opinion in Pediatrics, 1994
Recent advances in molecular genetics have led to major breakthroughs in the understanding of two heterogeneous groups of inherited skin diseases, epidermolysis bullosa and the ichthyoses. Mutations in keratins K5 or K14 are found in epidermolysis bullosa simplex.
openaire   +2 more sources

What’s New in Genetic Skin Diseases

Dermatologic Clinics, 2019
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
Callie R, Hill, Amy, Theos
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The genetics of human skin diseases

Current Opinion in Genetics & Development, 1996
Molecular genetic analyses during the past half-decade have brought unexpected insights into the molecular defects underlying a wide variety of abnormal skin phenotypes. Highlights of the efforts in the past year include the identification of mutations in an epidermal transglutaminase gene in lamellar ichthyosis as well as mutations in an additional ...
openaire   +2 more sources

Genetic Counseling for Skin Diseases

Dermatologica, 2009
A statistical study was carried out on 182 cases who seeked out genetic counseling about skin diseases. The size of the latent demand for the counseling was assessed to be as much as 3.0% of the outpatients. Most clients were in their twenties. A representative consultand was the patient’s child or sibling.
Isao Hashimoto   +8 more
openaire   +1 more source

Genetic Skin Diseases With Altered Aging

Archives of Dermatology, 1997
Integration, homeostasis, and redundancy of function are hallmarks of important biological processes. Individual gene defects may overcome and override normal homeostatic systems and lead to dramatic, recognizable phenotypes by profoundly altering 1 or more physiological systems.
openaire   +2 more sources

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