15 citations
,
June 2012 in “British Journal of Dermatology” A new mutation in the KRT86 gene causes a hair disorder with variable expression.
287 citations
,
July 2001 in “Journal of Cell Science” The study found 65 intermediate filament genes, including new keratins, and suggested updating keratin naming.
6 citations
,
August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
January 2017 in “Journal of Chemical Biological and Physical Sciences” Human hair keratin genes have unique simple sequence repeats that may help track genetic variations.
70 citations
,
December 2008 in “Cancer Research” CXCR2 in skin cells promotes tumor growth.
87 citations
,
January 2017 in “PLoS Genetics” Removing both KLK5 and KLK7 proteins can prevent death and skin issues in Netherton syndrome.
June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” KIF18B is important for correctly positioning cell division machinery in skin cells, affecting hair follicle development.
13 citations
,
January 2018 in “Advances in experimental medicine and biology” 24 citations
,
May 2009 in “The FASEB Journal” Akt2 and SGK3 are both important for normal hair growth and development.
84 citations
,
May 2008 in “Biological Chemistry” Human tissue kallikreins help regulate skin barrier functions and affect skin health.
43 citations
,
April 1996 in “Journal of Investigative Dermatology”
9 citations
,
May 2012 in “PLOS ONE” ILK is essential for skin development, pigmentation, and healing.
6 citations
,
September 2015 in “Journal of Investigative Dermatology” Using special RNA to target a mutant gene fixed hair problems in mice.
5 citations
,
June 2008 in “British Journal of Dermatology” 14 citations
,
July 2019 in “Journal of Investigative Dermatology” Integrin-linked kinase is crucial for melanoblasts to properly colonize the skin.
81 citations
,
February 2014 in “EMBO molecular medicine” Activating Nrf2 in skin cells causes skin disease similar to chloracne in mice.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
6 citations
,
October 2012 in “Journal of Heredity” The Itpr3 gene causes a specific hair pattern in mice.
15 citations
,
October 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” Erlotinib causes skin inflammation through IL-1, which can be reduced by anakinra.
10 citations
,
May 2012 in “Cell Adhesion & Migration” ILK and ELMO2 help cells move and stick together, important for wound healing and hair growth.
August 2012 in “Nature Cell Biology” The tumor suppressor BRCA2 helps in cell division by bringing key proteins to the area where cells split.
November 2019 in “Harper's Textbook of Pediatric Dermatology” Netherton syndrome is a genetic skin disorder causing severe skin issues and requires careful treatment to protect the skin barrier.
15 citations
,
May 2014 in “Journal of Biological Chemistry” A chimeric keratin partially improved skin structure in mice lacking keratin 5, but didn't fully restore normal skin.
April 2023 in “Journal of Investigative Dermatology” Blocking casein kinase 1 in skin cells can help melanocyte precursors move better, potentially helping with conditions like vitiligo or gray hair.
7 citations
,
May 2025 in “Journal of Biomedical Science” Keratin 6A increases skin inflammation, suggesting it could be a target for treating certain skin diseases.
April 2016 in “Journal of Investigative Dermatology” Double-stranded RNA activates a pathway that causes a skin protein to be expressed in the wrong place.
April 2023 in “Cancer research” KRTAP2-3 could help predict cancer recurrence by identifying specific cancer cells.
8 citations
,
July 2019 in “Pure and Applied Chemistry” Some natural compounds from Iris plants can block enzymes related to certain disorders, with a few affecting both targeted enzymes.
January 2011 in “Anhui nongye kexue” The vector successfully directed specific gene expression in hair follicles.
March 2023 in “JAAD case reports” A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.