84 citations
,
April 2002 in “Archives of Dermatology” Loose anagen hair syndrome may be caused by keratin gene mutations.
75 citations
,
April 2000 in “Developmental Dynamics” Whn is essential for hair growth, and its malfunction causes hair loss.
54 citations
,
October 2007 in “The FASEB Journal” Phospholipase C-δ1 is crucial for normal hair development.
2 citations
,
February 2021 in “FEBS open bio” Human hair keratins K85 and K35 create unique filament patterns important for early hair formation.
26 citations
,
October 1998 in “Experimental Dermatology” A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
27 citations
,
November 2007 in “Genomics” Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
59 citations
,
September 2007 in “Biochemical and Biophysical Research Communications” The TRPV3 gene mutation affects hair growth by keeping mice in the growth phase longer, which could help treat hair loss.
11 citations
,
October 2002 in “Genetics” A new mouse hair mutation, called hague, is semidominant and unstable, but the exact cause is unknown.
January 2002 in “Proceedings of The Japanese Society of Animal Models for Human Diseases” Keratin2-6g is crucial for hair follicle development, with mutations causing cell degeneration and vacuolation.
22 citations
,
February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.
33 citations
,
February 2012 in “British Journal of Dermatology” Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
18 citations
,
February 2006 in “Genomics” A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
1 citations
,
April 2008 in “Pigment Cell & Melanoma Research” Foxn1 is essential for hair pigmentation by directing pigment transfer to hair cells.
33 citations
,
September 2017 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes woolly hair and hair loss.
A specific gene mutation causes monilethrix in this family, and minoxidil treatment improves hair condition.
Mutations in keratin genes may link hair disorders to dental decay.
57 citations
,
August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
93 citations
,
July 2006 in “Journal of Investigative Dermatology” K25, K27, and K28 are found in all inner root sheath layers of hair, while K26 is only in the cuticle.
7 citations
,
April 2000 in “Mammalian Genome” A new mutation in mice causes crooked whiskers and messy hair.
3 citations
,
June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
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.
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.
26 citations
,
December 2003 in “Experimental Dermatology” Specific keratin gene mutations can cause monilethrix.
40 citations
,
September 2004 in “Biomacromolecules” The Glu413Lys mutation in keratin affects hair stability, while Glu413Asp does not.
6 citations
,
March 2017 in “Journal of the European Academy of Dermatology and Venereology” Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
1 citations
,
August 2020 The Shaven mutation in mice affects hair growth and causes a greasy coat due to abnormal lipid content.
2 citations
,
August 2012 in “Journal of the American Academy of Dermatology” Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
September 2023 in “Cutis” A baby girl has a hair disorder called monilethrix, causing fragile hair that may improve over time.
April 2016 in “Journal of Investigative Dermatology” Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.