June 2008 in “The Knowledge Bank (The Ohio State University)” Smad2 and Smad3 are essential for normal skin development, and their absence causes severe skin issues and cancer.
January 2002 in “Agritrop (Cirad)” The hr gene is linked to hair loss in Valle del Belice sheep.
July 2012 in “Medical Hypotheses” Artemis dysfunction might cause hair loss through telomere shortening.
November 2022 in “Journal of Investigative Dermatology” Rare genetic variants in 125 genes are linked to male-pattern hair loss.
72 citations
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November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
384 citations
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January 2008 in “Journal of Internal Medicine” Mitochondrial dysfunction contributes to ageing by causing DNA mutations and reduced cell function.
53 citations
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September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics” Mutations in keratin genes cause cell fragility and various skin disorders.
43 citations
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January 2016 in “Development” LHX2 is essential for hair follicle development, controlled by NF-κB and TGFβ2 signaling.
40 citations
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November 2013 in “European journal of endocrinology” Effective hirsutism treatment for women with PCOS should be personalized and may include lifestyle changes and medication.
21 citations
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May 2019 in “Pediatrics in review” People with primary immunodeficiencies often have frequent, severe, or unusual infections and may need special tests and management strategies.
4 citations
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September 2004 in “Experimental Dermatology” Mutations in certain skin proteins cause severe skin issues, while others have limited effects, highlighting the need to understand these proteins for better treatments.
3 citations
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September 2021 in “Journal of Clinical Medicine” Epidermal signaling helps regenerate fingertip tissue.
2 citations
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June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.
1 citations
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January 2026 in “Science Advances” The 3D skin model mimics pemphigus vulgaris and helps test treatments.
1 citations
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February 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” A300 membranes help skin heal faster by promoting cell growth and repair.
January 2025 in “ACS Applied Materials & Interfaces” Nanoparticles with specific drugs can help regrow hair in alopecia areata.
January 2025 in “Journal of Education Health and Sport” Metformin helps manage PCOS by improving metabolism and ovulation, but should be part of a personalized treatment plan.
April 2024 in “Journal of Investigative Dermatology” Using quantitative traits in genetics can improve understanding and management of skin health and conditions.
July 2026 in “Frontiers in Immunology” Ivarmacitinib may effectively treat complex atopic dermatitis and related hair loss.
July 2025 in “Journal of Investigative Dermatology” Miniaturized hair follicles in androgenetic alopecia show abnormal mitochondrial activity and damage.
April 2023 in “Journal of Investigative Dermatology” Mutations in the SHH pathway in certain skin cells can cause skin tumors and abnormal hair growth.
December 2022 in “Research Square (Research Square)” The QuantAnts machines can find cancer markers and create CRISPR targets for them.
Adolescents with PCOS have lower quality of life due to diagnosis, binge eating, and body image concerns.
May 2017 in “The journal of immunology/The Journal of immunology” Patients with certain FoxN1 gene mutations have severe immune issues but normal skin and hair.
April 2015 in “The FASEB Journal” Selenium deficiency worsens aging symptoms in mice.
January 2012 in “ScholarlyCommons (University of Pennsylvania)” miRNAs are crucial for hair growth and skin health.
29 citations
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September 2012 in “Birth Defects Research” Wounds heal without scarring in early development but later result in scars, and studying Wnt signaling could help control scarring.
25 citations
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September 2006 in “Birth Defects Research” Different processes create patterns in skin and things like hair and feathers.
10 citations
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August 2022 in “International Journal of Molecular Sciences” Leptin-deficient mice, used as a model for Type 2 Diabetes, have delayed wound healing due to impaired contraction and other dysfunctional cellular responses.
45 citations
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October 2008 in “Cytokine & Growth Factor Reviews” Activins and follistatins, part of the TGFβ family, are crucial for hair follicle development and skin health, affecting growth, repair, and the hair cycle.