11 citations
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October 2007 in “Journal of Investigative Dermatology” Mutations in the Sgk3 gene cause fuzzy hair in mice.
Smad4 is crucial for muscle repair, especially in aging, by promoting cell growth over differentiation.
26 citations
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May 2024 in “Molecular Neurodegeneration” H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
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August 2009 in “Differentiation” Desmoglein 4 is controlled by specific proteins that affect hair growth.
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January 2017 in “Endocrinology” Genetic defects in testosterone production can cause hormonal and developmental disorders, and more research is needed to understand androgen regulation and develop safer treatments.
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May 2018 in “Expert opinion on orphan drugs” Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
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October 2022 in “Molecular therapy” The FDA approved the first gene therapy for a blood disorder after overcoming early challenges and demonstrating patient benefits.
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March 2022 in “Communications biology” A new non-invasive method can analyze skin mRNA to understand skin diseases better.
56 citations
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November 2003 in “Journal of Investigative Dermatology” MMP-19 may worsen skin diseases by affecting skin growth and inflammation.