30 citations
,
January 2021 in “Journal of Clinical Immunology” This study describes various clinical phenotypes associated with FOXN1 mutations, finding that affected individuals may develop different severities of immunodeficiency based on their genetic mutations.
25 citations
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May 2020 in “Aesthetic Surgery Journal” In this systematic review, tSVF-based therapy demonstrated favorable outcomes for various pathologies, including aged skin and osteoarthritis, with low incidence of adverse events, while highlighting the need for further research into optimal protocols and mechanisms of action.
19 citations
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December 2015 in “European Journal of Human Genetics” This study found that a novel rare variant in ITGB6 may cause intellectual disability, alopecia, and dentogingival anomalies in a specific Pakistani family, highlighting a potential role for ITGB6 beyond enamel formation.
15 citations
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February 2021 in “Scientific Reports” This study identified a specific subpopulation of hair follicle stem cells in mice and humans that are essential for long-term hair regeneration, highlighting the potential for regenerative therapy.
11 citations
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September 2021 in “American Journal of Medical Genetics Part A” This study reports that newly diagnosed patients with Bachmann-Bupp syndrome exhibit a broader phenotype than previously documented, including late-onset seizures, and suggests a possible universal biochemical mechanism involving elevated ODC activity.