21 citations
,
September 1997 in “British Journal of Dermatology” Monilethrix is linked to the type II keratin gene on chromosome 12q13.
January 2025 in “Clinical Cosmetic and Investigational Dermatology” Genetic testing is crucial for diagnosing rare hair loss disorders.
15 citations
,
June 2011 in “Journal of Investigative Dermatology” Overexpressing 14-3-3σ in mice skin reduces cell growth and hair density.
100 citations
,
August 2011 in “Journal of Investigative Dermatology” Lack of vitamin D receptor increases skin tumor risk by boosting hedgehog signaling.
September 2017 in “Journal of Investigative Dermatology” Ovol2 is essential for normal skin and hair regeneration.
12 citations
,
June 2006 in “Pediatric blood & cancer” A 16-year-old boy had pernicious anemia, autoimmune hemolytic anemia, and later developed alopecia areata.
17 citations
,
May 2011 in “Gene Therapy” Using polyethylenimine-DNA to deliver the hTERT gene can stimulate hair growth and may be useful in treating hair loss, but there could be potential cancer risks.
11 citations
,
December 2018 in “Bone” Removing a methyl group from the ITGAV gene speeds up bone formation in a specific type of bone disease model.
9 citations
,
February 2016 in “Anatomical Science International” Hair proteins change location and structure as hair cells mature.
April 2018 in “Journal of Investigative Dermatology” CENPV, a new partner of CYLD, helps regulate ciliary acetylated tubulin and is overexpressed in certain skin tumors.
561 citations
,
April 2003 in “Journal of Investigative Dermatology” CD34 is a marker for isolating stem-like cells in mouse hair follicles.
4 citations
,
May 2025 in “npj Parkinson s Disease” PINK1 is important for controlling gut immune responses linked to early Parkinson's disease.
53 citations
,
May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
136 citations
,
March 1998 in “Oncogene” Overexpression of E2F1 can lead to skin tumors and disrupt hair growth.
SLC24A5 shows a clear selective sweep, but no link to UV radiation intensity.
82 citations
,
March 2013 in “PLoS ONE” Vemurafenib causes skin side effects similar to RASopathies, requiring regular skin checks and UVA protection.
49 citations
,
September 2004 in “Journal of the European Academy of Dermatology and Venereology” Careful light microscopy is crucial for detecting mild cases of pili annulati, which weakens hair and varies widely in expression.
27 citations
,
December 2005 in “Journal of Cutaneous Pathology” The malignant pilomatricoma showed strong epithelial keratin expression, suggesting it may not calcify.
33 citations
,
January 2018 in “Blood” Ruxolitinib helps protect skin stem cells and keeps skin healthy in mice with skin GVHD.
71 citations
,
January 2011 in “Journal of cutaneous pathology” A rare skin condition was confirmed to be associated with a specific virus in a young girl.
13 citations
,
January 2001 in “Pediatric dermatology” A dark-haired Chinese girl had hair that looked banded under certain light but was normal under a microscope.
April 2011 in “The FASEB Journal” Profilin1 speeds up wound healing.
Keratinocytes can reduce the survival of certain melanoma cells, suggesting new therapy paths.
3 citations
,
July 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Keratin 17 is important for skin's response to radiation, affecting many genes and cell division.
January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
March 2013 in “Pigment Cell & Melanoma Research” A gene called Taqpep affects cat coat patterns like stripes and blotches.
1 citations
,
March 2023 in “Anais Brasileiros de Dermatologia”
19 citations
,
December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
11 citations
,
July 2010 in “European Journal of Dermatology” The condition is linked to chromosome 12, but no mutations were found in the known genes.