20 citations
,
May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
11 citations
,
December 2017 in “Orphanet Journal of Rare Diseases” A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
112 citations
,
August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
12 citations
,
October 2006 Matriptase imbalance contributes to cancer development and spread.
52 citations
,
February 2012 in “PloS one” Lack of Ctip2 in skin cells delays wound healing and disrupts hair follicle stem cell markers in mice.
December 2025 in “Molecules” DPP may help hair regrowth by improving blood vessel function under stress.
175 citations
,
September 1998 in “British Journal of Dermatology” Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
14 citations
,
December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
April 2016 in “Journal of Investigative Dermatology” Blocking Prostaglandin D₂ (PGD₂) could help treat hair loss.
November 2025 in “Journal of Investigative Dermatology” TEDAR is crucial for skin cell differentiation and barrier formation.
8 citations
,
July 2023 in “Inflammation and Regeneration” ALKBH5 helps wounds heal faster by stabilizing PELI2 mRNA.
22 citations
,
June 2002 in “Journal of Medicinal Chemistry” Compounds 15, 20, and 25 are strong inhibitors of human steroid 5α-reductase type 2.
72 citations
,
January 2003 in “American Journal of Pathology” A protein called CBP is found in prostate cancer and can increase the effectiveness of certain prostate cancer treatments.
46 citations
,
November 2004 in “Lipids” PPARs help regulate skin health and could be used to treat skin disorders.
29 citations
,
September 2018 in “Journal of the American Heart Association” EP 2 receptor is essential for heart repair by helping macrophages work properly.
December 2021 in “Figshare” BBS7 is crucial for maintaining periodontal health by supporting Shh signaling.
January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” A certain gene variation is linked to a higher risk of polycystic ovarian syndrome in South Indian women.
54 citations
,
October 2023 in “Oncogene” p63 is essential for controlling epithelial stem cells and tissue health.
June 2025 in “Proceedings of the National Academy of Sciences” A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.
3 citations
,
July 2021 in “Life science alliance” PNKP is essential for keeping adult mouse progenitor cells healthy and growing normally.
19 citations
,
April 1999 in “British Journal of Dermatology” Keratin 2e shows a unique pattern in developing fetal skin, different from other keratins.
53 citations
,
May 1988 in “Journal of Molecular Evolution”
12 citations
,
November 2014 in “Bioscience, Biotechnology, and Biochemistry” Genetically modifying a bacteria and changing its growth conditions significantly increased the production of a chemical called dipicolinic acid.
A specific gene change in APCDD1 increases the risk of hair loss.
Polydopamine is promising for personalized medicine and biomedical technology due to its strong adhesion and biocompatibility.
26 citations
,
June 2018 in “The journal of immunology/The Journal of immunology” AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
22 citations
,
July 1998 in “Journal of Investigative Dermatology” The 4C32 gene may help in mouse skin development and differentiation.
9 citations
,
March 2018 in “European journal of dermatology/EJD. European journal of dermatology” A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
5 citations
,
July 2014 in “Molecular Biology Reports”