32 citations
,
November 2020 in “UNC Libraries” A point mutation in the androgen receptor gene causes complete androgen insensitivity.
10 citations
,
February 2008 in “Photochemistry and photobiology” Vitamin D receptor can control the hairless gene linked to hair loss even without vitamin D.
35 citations
,
January 2011 in “Journal of Biological Chemistry” sPLA2-X is crucial for normal hair growth and follicle health.
September 2005 in “CRC Press eBooks” Vitamin D is important for skin cell growth and health, and its active form and receptor play key roles in skin and hair processes.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
32 citations
,
July 2003 in “Histochemistry and Cell Biology” 37 citations
,
August 2015 in “The Journal of Steroid Biochemistry and Molecular Biology” The vitamin D receptor can regulate genes and affect hair and hormone levels without its usual activator.
4 citations
,
February 2023 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” The study found that certain mutations in the vitamin D receptor can cause rickets and potentially affect hair growth.
October 2014 in “Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano)” A new type of nerve cell involved in itch perception was discovered.
18 citations
,
September 2003 in “The journal of investigative dermatology/Journal of investigative dermatology” VDUP1 is found in skin and hair follicles, interacts with sciellin, and may help regulate skin cell differentiation.
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.
14 citations
,
March 1987 in “Journal of Investigative Dermatology” April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Double stranded RNA helps skin wounds heal by coordinating specific proteins and signaling pathways.
November 2025 in “Journal of Investigative Dermatology” TEDAR is crucial for skin cell differentiation and barrier formation.
November 2024 in “Journal of Investigative Dermatology” ATP-sensitive potassium channels are important for hair growth.
Epimorphin helps shape and develop epithelial cells, like those in hair follicles.
35 citations
,
January 2018 in “Vitamins and hormones” DHEA affects various tissues by interacting with multiple receptors and can be converted into sex hormones.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” The TRPV3 channel structure changes linked to severe itch and hyperkeratosis were identified using cryo-EM.
1 citations
,
March 2004 in “Journal of the American Academy of Dermatology” ZD1839, a cancer drug, can cause mild skin rashes that are treatable without stopping the medication.
6 citations
,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
October 2025 in “Cell Death and Disease” CD271 is crucial for maintaining healthy skin and preventing inflammation.
12 citations
,
August 2015 in “Experimental Dermatology” The mineralocorticoid receptor temporarily affects mouse skin development, but the glucocorticoid receptor has a more lasting impact.
March 2026 in “Experimental Dermatology” The new model helps understand and develop treatments for genetic skin disorders like AEC.
20 citations
,
February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
1308 citations
,
March 1998 in “Journal of bone and mineral research” The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.
55 citations
,
September 2003 in “Experimental Dermatology” PDGF signaling may play a role in hair growth cycle regulation.
114 citations
,
January 2016 in “Current topics in developmental biology/Current Topics in Developmental Biology” Frizzled receptors are essential for various body development processes and maintaining certain body functions.
13 citations
,
December 2005 in “Traffic” Syntaxin 9 helps in transporting and signaling of the EGF receptor in skin and stomach cells.
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.
23 citations
,
July 2015 in “PubMed” PDGF and its receptors are crucial for stem cell growth and function.