8 citations
,
July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
7 citations
,
June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
84 citations
,
June 1970 in “Journal of Investigative Dermatology” December 2019 in “Saintika Medika” A woman with lupus also developed a severe skin condition linked to a genetic factor.
Newly designed proteins can effectively degrade specific proteins in cells, offering a potential new therapy method.
April 2019 in “Journal of Investigative Dermatology” Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
118 citations
,
August 2010 in “Developmental Cell” MIM is crucial for hair follicle formation and regeneration by controlling cilia formation and hedgehog signaling through its interaction with Cortactin and Src.
46 citations
,
September 2007 in “Journal of Investigative Dermatology” 3 citations
,
October 2021 in “Turkish Journal Of Neurology” Genetic analysis is crucial for diagnosing and managing cerebral arteriopathy.
1 citations
,
September 2020 in “Journal of dermatology” Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
4 citations
,
September 2004 in “Experimental Dermatology” Connexin mutations can cause various diseases like hearing loss and skin disorders.
5 citations
,
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” Rapamycin may help treat Leigh syndrome by targeting protein kinase C.
36 citations
,
January 2019 in “Nature communications” High lactate dehydrogenase activity is not necessary for the growth of squamous cell carcinoma.
April 2018 in “Journal of Investigative Dermatology” Resveratrol activates the Nrf2 pathway in human skin, significantly increasing the production and distribution of the antioxidant glutathione.
42 citations
,
September 1985 in “British Journal of Dermatology” Trichothiodystrophy causes abnormal protein deposits and distortion in hair follicles.
January 2026 in “Indian Journal of Ophthalmology - Case Reports” Trichilemmal cysts can appear on children's eyelids and may be mistaken for other conditions.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
8 citations
,
March 2023 in “International Wound Journal” IGF2BP3 and other m6A-related genes are linked to keloid formation and could be potential treatment targets.
30 citations
,
April 2009 in “Mycoses” Microsporum gypseum fungus breaks down keratin in hair by digesting it enzymatically, starting with less keratinized parts.
11 citations
,
January 2016 in “Biointerphases” The hair's outermost surface has multiple layers of lipids and proteins.
April 2024 in “Current research in nutrition and food science” Taking an amino acid supplement improved skin, hair, and nail health in women.
4 citations
,
November 2020 in “Acta Dermato Venereologica” Tofacitinib effectively improved severe skin symptoms in a patient with Hypohidrotic Ectodermal Dysplasia.
1 citations
,
July 2025 in “Journal of Investigative Dermatology” Increasing m6A levels can improve skin cell growth and wound healing.
January 2018 in “ScholarWorks @UVM (University of Vermont)” Selenium in proteins helps prevent over-oxidation and supports chemical reversibility.
151 citations
,
August 2011 in “The EMBO Journal” The enzyme PA-PLA1α is important for proper hair follicle development.
6 citations
,
August 2016 in “Journal of Visualized Experiments” The CUBIC protocol allows detailed 3D visualization of proteins in mouse skin biopsies.
1 citations
,
December 2022 in “Pediatric dermatology” A boy developed a rare skin condition after recovering from a severe skin reaction, and it improved with lotion treatment.
January 2026 in “Therapeutics” SCUBE3 is a potential target for cancer and alopecia treatment but is challenging to target due to its varied roles.
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.