The Genetics of Human Skin Disease

October 2014 in “ Cold Spring Harbor Perspectives in Medicine ”

Gina M. DeStefano, Angela M. Christiano

Studysummary Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.

Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer

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research Position Effect on FGF13 Associated with X-Linked Congenital Generalized Hypertrichosis

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This study found a significant association between reduced FGF13 levels and X-linked congenital generalized hypertrichosis, suggesting FGF13's potential role in hair follicle growth and the hair cycle.

research Genome-Wide Association Study of Skin Complex Diseases

25 citations , March 2012 in “Journal of Dermatological Science”

This review discusses genome-wide association studies in dermatology, noting that variants linked to risk for 10 skin complex diseases have been identified, with potential implications for diagnostics and management; it reports no new clinical results.

research Trps1 Activates a Network of Secreted Wnt Inhibitors and Transcription Factors Crucial to Vibrissa Follicle Morphogenesis

59 citations , November 2011 in “Development”

This study found that the transcription factor Trps1 acts as a novel regulator of the Wnt signaling pathway and early hair follicle progenitors in developing vibrissa follicles in mice.

Transcriptional Profiling in Alopecia Areata Defines Immune and Cell Cycle Control Related Genes Within Disease-Specific Signatures

research Transcriptional Profiling in Alopecia Areata Defines Immune and Cell Cycle Control Related Genes Within Disease-Specific Signatures

61 citations , September 2010 in “Genomics”

This study found distinct gene expression profiles in alopecia areata-affected skin, suggesting T-cell mediated immune responses and unique gene profiles between different stages of the disease.

research Genome-Wide Association Study in Alopecia Areata Implicates Both Innate and Adaptive Immunity

717 citations , June 2010 in “Nature”

This study identified key genetic regions associated with alopecia areata, highlighting both acquired and innate immune involvement, with a novel link to the upregulation of ULBP ligands in autoimmune disease.

research A Position Effect on TRPS1 Is Associated with Ambras Syndrome in Humans and the Koala Phenotype in Mice

60 citations , August 2008 in “Human molecular genetics online/Human molecular genetics”

This study suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.

research Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia

195 citations , June 2005 in “American Journal of Human Genetics”

Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.

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