42 citations
,
December 2016 in “Cell Death & Differentiation” Damaging mitochondrial DNA in mice speeds up aging due to increased reactive oxygen species, not through the p53/p21 pathway.
22 citations
,
September 2011 in “Journal of Investigative Dermatology” TCF/Lef1 is essential for skin barrier function by regulating lipid metabolism.
July 2016 in “Cancer research” Mutant cells in hair follicles are influenced by their location and interactions with surrounding cells.
April 2023 in “Journal of Investigative Dermatology” Human TMEM2 does not break down hyaluronan but helps control its metabolism.
5 citations
,
March 2019 in “Experimental dermatology” Activating TLR3 may help produce retinoic acid, important for tissue regeneration.
6 citations
,
August 2024 in “BMC Ophthalmology” New genetic variants linked to albinism were found in Pakistani families.
CCC1 is crucial for pH balance in plant cells, affecting growth and stress tolerance.
January 2007 in “Revista del Centro Dermatológico Pascua” A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
1 citations
,
January 2017 in “International Journal of Trichology” A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
20 citations
,
April 2014 in “Autoimmunity” A specific gene variant (rs4833095) is linked to a higher risk of alopecia areata in Koreans.
10 citations
,
November 2008 in “Veterinary Dermatology” The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.
57 citations
,
August 1997 in “Pediatrics International” VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.
20 citations
,
January 2017 in “Experimental Dermatology” Igf1r helps regulate hair growth cycles.
26 citations
,
January 1992 in “Carcinogenesis” TPA strongly increases ODC activity in certain skin cells, potentially aiding tumor growth.
5 citations
,
July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
14 citations
,
September 1999 in “Mammalian genome” The scraggly mutation causes hair loss and skin defects in mice.
8 citations
,
June 1981 in “Clinica Chimica Acta” 10 citations
,
January 2014 in “Journal of Pediatric Endocrinology and Metabolism” Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
66 citations
,
December 1999 in “Journal of Investigative Dermatology” New mutations in the hairless gene may cause hair loss and affect bone development.
97 citations
,
March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
46 citations
,
September 2007 in “Journal of Investigative Dermatology”
April 2018 in “Journal of Investigative Dermatology” Ovol2 is important for proper skin healing and hair growth.
5 citations
,
December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
2 citations
,
September 2016 in “Journal of Dermatological Science” Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.
11 citations
,
October 2001 in “Dermatologic Clinics” The document concludes that DAB389-IL2 is promising for treating refractory cutaneous T-cell lymphoma, but more research is needed on its effectiveness and side effect management.
May 2021 in “FEBS open bio”
4 citations
,
April 2019 in “Gynecological Endocrinology” Certain gene variations are found in people with polycystic ovary syndrome.
8 citations
,
September 2022 in “Human genomics” Key genes and pathways involved in thyroid eye disease were identified, aiding potential treatment and diagnosis.
7 citations
,
January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
7 citations
,
March 2018 in “Asian-Australasian journal of animal sciences” OCIAD2 and DCN genes affect hair growth in goats by having opposite effects on a growth signaling pathway and inhibiting each other.