May 2022 in “Journal of Immunology” A parasite molecule can speed up skin healing and reduce scarring.
19 citations
,
September 2010 in “The American journal of pathology” High glucocorticoids cause pancreatic malfunction and malabsorption, reversible with enzyme supplements.
15 citations
,
June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
July 2025 in “Journal of Investigative Dermatology” Androgens reduce THY1 in skin cells, leading to less fat, more fibrosis, and worse healing in males.
November 2025 in “Journal of Investigative Dermatology” BTNL2 helps protect hair follicles from immune attacks.
April 2017 in “Journal of Investigative Dermatology” Removing the Crif1 gene in mouse skin disrupts skin balance and hair growth.
7 citations
,
March 2022 in “Scientific reports” Removing anthrax toxin receptor 1 in pigs prevents Senecavirus A infection and causes a rare disease similar to GAPO syndrome.
9 citations
,
November 2019 in “Cell calcium” The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
31 citations
,
May 2021 in “Journal of endocrinological investigation” APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
13 citations
,
April 1994 in “Baillière's clinical endocrinology and metabolism” Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
24 citations
,
September 2014 in “PloS one” Thyroid hormone receptors are essential for hair growth and wound healing.
16 citations
,
February 2005 in “British journal of dermatology/British journal of dermatology, Supplement” Lack of Vitamin D receptor changes skin structure and increases certain immune cells in the skin.
105 citations
,
February 1996 in “Journal of biological chemistry/The Journal of biological chemistry” The TGM3 gene's promoter region is key for skin and hair cell function and may aid gene therapy.
January 2024 in “Genetics in Medicine Open” Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
September 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” A parasite-derived molecule speeds up skin healing and affects immune cell behavior without increasing scarring.
September 2023 in “Journal of the American Academy of Dermatology” Dermatologists should consider alpha-gal syndrome in patients with unexplained chronic skin issues.
55 citations
,
November 2010 in “Journal of Allergy and Clinical Immunology” The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.
260 citations
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July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
40 citations
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March 2019 in “Nature Communications” CRAC channels are crucial for the development and function of specialized immune cells, preventing severe inflammation and autoimmune diseases.
8 citations
,
January 2023 in “International journal of molecular sciences” Transglutaminase activity is important for skin and is found in both mammals and birds.
8 citations
,
July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
2 citations
,
January 2018 in “International Journal of Trichology” Two sisters had a rare hair condition without other usual symptoms.
1 citations
,
May 2023 in “Journal of neuroendocrinology” DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
September 2019 in “Journal of Investigative Dermatology” Innate lymphoid cells type 1 may contribute to alopecia areata.
3 citations
,
January 2022 in “Burns & Trauma” CTHRC1 helps sweat glands recover by rebuilding nearby blood vessels.
10 citations
,
November 2018 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
September 2017 in “Journal of Investigative Dermatology” LRIG1 protein affects hair growth by regulating skin receptors, leading to hair loss when overexpressed.
14 citations
,
February 1991 in “FEBS Letters” Introducing the rat OTC gene partially corrected OTC deficiency in mice.
January 2010 in “Zhongguo xiandai yixue/Zhongguo xiandai yixue zazhi” TGF-β1 and TNF-α contribute to lung damage after radiation.
April 2010 in “The journal of immunology/The Journal of immunology” FoxN1 gene is crucial for proper thymus structure and normal skin appearance.