8 citations
,
December 2019 in “Molecular genetics and metabolism reports” Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
January 2014 in “生命科学(ISSN1934-7391)” A certain gene variation can affect protein production and is linked to male pattern baldness.
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 2019 in “Springer eBooks” Sebaceous glands play a key role in skin health and conditions like acne.
July 2023 in “British journal of dermatology/British journal of dermatology, Supplement” HPV8 E6 gene causes growth of certain skin stem cells.
GPC1 is important for blood vessel growth in hair follicles and could help treat hair loss.
3 citations
,
December 2014 in “Annals of Laboratory Medicine” A Korean baby with nevus sebaceus syndrome was found to have a KRAS gene mutation.
51 citations
,
September 2012 in “Gene” The research identified a gene in sheep important for wool quality, which could help improve wool traits.
8 citations
,
September 2017 in “Scientific Reports” MAD2B slows down the growth of skin cells that are important for hair development by interacting with TCF4.
4 citations
,
April 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
3 citations
,
July 2020 in “Synthetic and Systems Biotechnology” Scientists improved an enzyme to better produce a hair growth-promoting chemical from an immunosuppressant.
33 citations
,
March 2015 in “Experimental Dermatology” LHX2 and SOX9 identify unique hair follicle cell groups, crucial for hair maintenance.
September 2012 in “대한피부과학회지” Desmocollin 1 helps maintain skin structure during fetal development.
16 citations
,
August 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” MED1 is essential for normal hair growth and maintaining hair follicle stem cells.
7 citations
,
April 2020 in “JIMD Reports” ATP6AP1‐CDG can cause hearing loss, hair loss, and protein issues, even in female carriers.
3 citations
,
January 2019 in “Jikken doubutsu ihou/Jikken doubutsu/Experimental animals/Jikken Dobutsu” Pigs without the Hairless gene showed skin and thymus changes, useful for studying human hair disorders.
20 citations
,
November 2019 in “Stem Cells” Hes1 protein is important for hair growth and regeneration, and could be a potential treatment for hair loss.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
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.
7 citations
,
March 2022 in “The FASEB journal” Adult mice with CBS deficiency show minimal health issues and normal lifespan despite high homocysteine levels.
July 2025 in “Journal of Investigative Dermatology” 60 citations
,
March 2006 in “Journal of Medical Genetics” A mutation in the KRTHB5 gene causes hair and nail issues.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Elf5 is important for skin stem cell growth and could help treat skin and hair problems.
May 2025 in “Experimental Dermatology” Triphenylphosphine oxide can increase oil production and reduce inflammation in skin cells without affecting TRPM5.
91 citations
,
June 2011 in “The EMBO Journal” TCF/Lef1 activity is essential for proper skin cell development and renewal.
12 citations
,
May 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Laminin 332 is essential for normal skin cell behavior and structure.
Low IRES/Cap translation is linked to higher stem cell potential.
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.
34 citations
,
July 2020 in “American journal of human genetics” Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
22 citations
,
August 2015 in “PloS one” Keratin from hair binds well to gold and BMP-2, useful for bone repair.