26 citations
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September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
25 citations
,
January 2000 in “Hormone Research in Paediatrics” Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.
1 citations
,
January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
28 citations
,
May 2015 in “Molecular Neurobiology” LSD1 is crucial for regenerating hair cells in zebrafish.
December 2013 in “Appetite” A defective gene causes hair loss and taste insensitivity in BTBR mice.
75 citations
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July 2016 in “New phytologist” The protein RSL4 is crucial for making root hairs longer by controlling genes related to cell growth.
4 citations
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March 2024 in “Journal of Investigative Dermatology” SPRY1 deficiency in skin cells causes stem cells to move to the skin surface, leading to increased pigmentation.
59 citations
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April 2016 in “Cell Reports” EdnrB signaling helps melanocyte stem cells regenerate and could be targeted to treat pigmentation issues.
8 citations
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March 2011 in “Endocrine” A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
215 citations
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September 2003 in “Journal of Biological Chemistry” Vitamin D receptor and hairless protein are essential for hair growth.
31 citations
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July 2004 in “Molecular Medicine” Certain defective glucocorticoid receptor mutants move faster inside cell nuclei and work less effectively.
5 citations
,
March 2012 in “Journal of Investigative Dermatology” Vitamin D receptor and mediator 1 are crucial for healthy skin and hair growth.
November 2023 in “Animal Bioscience” miR-133a-3p and miR-145-5p help goat hair follicle stem cells differentiate by controlling NANOG and SOX9.
31 citations
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July 2017 in “Clinical Science” MicroRNAs are important for skin health and could be targets for new skin disorder treatments.
January 2025 in “Repository of Digital Objects for Teaching Research and Culture (University of Valencia)” Non-coding RNAs may be key in diagnosing and treating rare skin disorders.
4 citations
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February 2022 in “International Journal of Molecular Sciences” Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.
September 2017 in “Journal of Investigative Dermatology” RCS-01 is safe and may help rejuvenate aging skin.
Deleting the MAD2L1 gene is tolerated in certain mouse cancer models.
1 citations
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July 2025 in “Advanced Science” The microneedles effectively kill MRSA and improve wound healing.
November 2024 in “Journal of Investigative Dermatology”
November 2022 in “Gigascience” A specific genetic deletion in goats affects cashmere yield and thickness.
74 citations
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January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
November 2024 in “Journal of Investigative Dermatology” Understanding snoRNA regulation may help slow skin aging.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” MPZL3 protein helps keep sebaceous gland size and cell growth in check.
January 2026 in “Aging and Disease” The α-MSH-MC1R-cAMP pathway does not protect skin cells from UVA damage.
11 citations
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October 2023 in “mSphere” PrrH sRNA controls pyochelin production in *Pseudomonas aeruginosa*.
149 citations
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June 2010 in “The FASEB journal” miR-31 regulates hair growth by controlling gene expression in hair follicles.
1 citations
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April 2025 in “BMC Veterinary Research” PSAT1 is key for hair growth and stem cell function in cashmere goats.