April 2016 in “Journal of Investigative Dermatology” A peptide known for reducing wrinkles also effectively inhibits an enzyme linked to skin inflammation and acne.
51 citations
,
January 1997 in “PubMed” GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.
2 citations
,
December 2016 in “Experimental cell research” The research found a way to identify and study skin cells with stem cell traits, revealing they behave differently in culture and questioning current stemness assessment methods.
87 citations
,
September 2019 in “Nature Communications” SOX11 and SOX4 help skin cells act like embryonic cells to heal wounds in mice.
39 citations
,
January 2015 in “Annals of dermatology/Annals of Dermatology” Three new types of a skin blistering disease were found, caused by specific gene mutations.
93 citations
,
April 2003 in “Proceedings of the National Academy of Sciences of the United States of America” Fatty acid transport protein 4 is essential for skin and hair development.
March 2026 in “Wound Repair and Regeneration” MARCKSL1 is important for wound healing and could be a target to reduce scarring.
2 citations
,
August 2012 in “Journal of the American Academy of Dermatology” Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
3 citations
,
July 2024 in “Frontiers in Medicine” Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
December 2023 in “The journal of cell biology/The Journal of cell biology” The mTurq2-Col4a1 mouse model shows how the basement membrane develops in live mammals.
July 2011 in “Journal of Pediatric and Adolescent Gynecology” A 15-year-old girl has a skin condition causing blisters on her feet, likely inherited from her family.
4 citations
,
December 2022 in “Advanced science” SCD1 is important for hair growth by keeping the connection in skin cells where hair stem cells live stable.
November 2024 in “Journal of Investigative Dermatology” Scalp hair follicle cells help protect and heal skin in certain skin conditions.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
65 citations
,
July 1984 in “Journal of Investigative Dermatology”
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” MPZL3 is crucial for seborrheic dermatitis development.
71 citations
,
February 1992 in “Journal of Cutaneous Pathology” Antibodies help identify glycoproteins in normal skin and tumor cells.
5 citations
,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A new therapy for a skin blistering condition has not been developed yet.
1 citations
,
March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
29 citations
,
July 2014 in “PloS one” Meis1 is crucial for skin health and tumor development.
6 citations
,
December 2019 in “Frontiers in genetics” GLI1 might protect against the start of skin cancer and is not linked to cancer severity.
July 2025 in “Journal of Investigative Dermatology” Tissue-engineered skin substitutes can model junctional epidermolysis bullosa and may help develop gene therapy.
76 citations
,
June 2015 in “Journal of biomedical science” Mutations in Gasdermin A3 cause skin inflammation and hair loss by disrupting mitochondria.
39 citations
,
November 2007 in “Journal of Histochemistry & Cytochemistry” NG2 is crucial for normal skin and hair development in mice.
April 2023 in “Journal of Investigative Dermatology” MPZL3 protein helps control the size of oil glands and the growth of oil-producing cells in both mice and humans.
2 citations
,
October 2023 in “PubMed” Scientists created a cell model to study and find treatments for a skin disease called RDEB.
5 citations
,
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The gene therapy showed significant wound healing and was safe for treating severe RDEB.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
July 2023 in “International Journal of Molecular Sciences” N,N-Dimethylglycine Sodium Salt helps reduce skin inflammation and improves skin cell growth and healing.
14 citations
,
May 2017 in “Journal of Investigative Dermatology” A rare gene mutation causes skin fragility and itching without affecting hair or nails.