39 citations
,
December 2012 in “The American Journal of Human Genetics” Mutations in the SNRPE gene cause hereditary hair loss.
10 citations
,
November 2018 in “Genetics in medicine” Lack of cystatin M/E causes thin hair and dry skin.
7 citations
,
February 2011 in “Journal of dermatology” The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
75 citations
,
October 1999 in “Differentiation” Mouse keratin 6 isoforms have different expression patterns in various tissues.
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
,
December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The SYP123-VAMP727 complex is important for transporting materials that harden the root hair shank in Arabidopsis.
Defective protein folding due to a mutation is key in ANE syndrome.
35 citations
,
January 2013 in “The Journal of experimental medicine/The journal of experimental medicine” CD98hc's role in skin health decreases with age.
4 citations
,
January 2019 in “Journal of cutaneous pathology” The mTOR pathway may be involved in the development of hair follicle tumors, with higher activity in malignant tumors.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
48 citations
,
November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Genetic variations in hair keratin proteins exist but don't significantly affect hair structure.
June 1996 in “Journal of Dermatological Science” 91 citations
,
July 2004 in “Journal of Biological Chemistry” Overexpressing SSAT enzyme reduces prostate tumor growth in mice.
2 citations
,
May 2023 in “The Journal of Immunology” NXC736 significantly reduced hair loss in mice with alopecia areata.
50 citations
,
July 2008 in “British Journal of Dermatology” 232 citations
,
July 1995 in “Nature Genetics”
5 citations
,
February 2008 in “Experimental Dermatology” Cyclosporin A promotes hair growth in mice and increases a protein linked to hair growth, but it may not work the same way in humans.
The transporter protein SH1446 in Staphylococcus hominis is key to underarm odor production.
5 citations
,
October 2021 in “American Journal of Medical Genetics Part A” A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
1 citations
,
January 1992 in “DNA sequence” Researchers found a non-functional sheep keratin gene due to mutations.
November 2025 in “The Journal of Immunology” The S1PR 1&4 modulator may effectively treat alopecia areata by reducing hair loss and immune cell activity.
July 2024 in “Journal of Investigative Dermatology” Squaric acid dibutylester helps hair growth by increasing certain immune cells in the skin.
32 citations
,
August 2016 in “Science Signaling” Alopecia areata patients show unique protein activity patterns, suggesting imbalanced signaling pathways.
98 citations
,
June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” A cluster of sulfur-rich hair protein genes was found on chromosome 17.
117 citations
,
September 2003 in “Molecular & cellular proteomics” The technology can help diagnose and subtype autoimmune diseases by identifying specific autoantibodies.
S1PR1 helps control inflammation in blood vessel cells by affecting gene activity differently in various cell types and locations.
February 2023 in “Benha Journal of Applied Sciences” R-Spondin-1 is important for skin health and could help diagnose and treat various skin conditions.
7 citations
,
April 2019 in “Animal biotechnology” The POMP gene is active in various goat tissues and affects hair growth, with certain treatments influencing its expression.
75 citations
,
July 2016 in “New phytologist” The protein RSL4 is crucial for making root hairs longer by controlling genes related to cell growth.
260 citations
,
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.