September 2022 in “Frontiers in genetics” A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
161 citations
,
June 1993 in “Journal of Biological Chemistry” Trichohyalin helps in hair and skin cell structure and function by binding calcium and linking proteins.
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.
28 citations
,
July 2007 in “Development” TAF4 is important for skin cell growth and helps prevent skin cancer in mice.
3 citations
,
April 2021 in “Biomolecules & Therapeutics” The protein ER71/ETV2 helps regrow hair after chemotherapy by improving the growth of new blood vessels.
19 citations
,
May 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” The type 3 IP3 receptor is important for controlling hair loss and growth.
138 citations
,
April 2003 in “Carcinogenesis” 2-Methoxyestradiol causes cancer cell death by activating specific pathways, but androgens can block this effect.
29 citations
,
October 2016 in “Cell death and differentiation” ΔNp63α stops TAp73β from working in skin cancer by blocking its access to specific genes, not by directly interacting with it.
14 citations
,
May 2017 in “Journal of Investigative Dermatology” A rare gene mutation causes skin fragility and itching without affecting hair or nails.
3 citations
,
August 2013 in “Stem cells” Certain inhibitors applied to the skin can promote hair growth by maintaining a key hair growth signal.
3 citations
,
May 2025 in “Plant Cell & Environment” CLE14 peptide promotes root hair growth in Arabidopsis.
4 citations
,
November 2020 in “Acta Dermato Venereologica” Tofacitinib effectively improved severe skin symptoms in a patient with Hypohidrotic Ectodermal Dysplasia.
5 citations
,
August 2024 in “Skin Research and Technology” KLB and EIF3C genes are key for early diagnosis of vitiligo and alopecia areata.
February 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Increased energy use in Pik3r1-related insulin resistance isn't due to Ucp1 thermogenesis.
4 citations
,
November 2024 in “Journal of Advanced Research” Targeting NMMHC IIA may help treat blood-brain barrier damage.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
16 citations
,
September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
13 citations
,
January 2018 in “Advances in experimental medicine and biology”
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.
April 2025 in “Molecular Biology Reports” DNMT1 may help treat hypospadias by improving cell function and preventing unwanted cell changes.
14 citations
,
March 2022 in “Plant Cell & Environment” The protein AtRXR3 limits root hair growth in Arabidopsis, affecting phosphorus uptake.
UC-MSC-derived exosomes may help treat hair loss by promoting hair cell growth through AKT activation.
43 citations
,
February 2013 in “Developmental dynamics” Foxi3 expression in developing teeth and hair is controlled by the ectodysplasin pathway.
Inhibiting mTORC2 can reduce DNA repair and increase cancer cell death, suggesting potential for targeted brain cancer treatments.
166 citations
,
September 2011 in “The Journal of Cell Biology” p63 controls Satb1 to help skin develop properly.
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.
65 citations
,
November 2013 in “The EMBO Journal” HDAC1 is crucial for skin development and preventing tumors.
3 citations
,
August 2021 in “Nutrition research” Estrogen affects how vitamin A is processed in mouse skin, which may impact acne treatment, hair growth, and skin defense.
1 citations
,
November 2025 in “Aging Cell” EDA2R is a key gene linked to ageing and diseases, and targeting it may help treat conditions like hair loss and chronic diseases.
32 citations
,
February 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” Two specific hair keratin genes are active during hair growth and decline as hair transitions to rest.