52 citations
,
May 1997 in “Journal of Biological Chemistry” High ornithine decarboxylase levels may lead to hair loss and cancer by increasing CK2 activity in the nucleus.
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.
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.
9 citations
,
February 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that the human keratin gene cluster is complex, with a need for updated naming to reflect over 50 functional genes important for hair and skin biology.
79 citations
,
March 2005 in “Journal of Medical Genetics” A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
40 citations
,
September 2004 in “Biomacromolecules” The Glu413Lys mutation in keratin affects hair stability, while Glu413Asp does not.
BLTP1 and KIF27 gene mutations can help breed better wool sheep.
6 citations
,
January 2006 in “Journal of dermatological science” Runx1 helps control the KAP5 gene in human hair follicles.
27 citations
,
January 2000 in “Developmental Dynamics” Mutations in the Whn gene affect hair keratin gene expression differently.
37 citations
,
January 2006 in “Carcinogenesis” Antizyme slows skin tumor growth by reducing cell growth in mice.
87 citations
,
January 2017 in “PLoS Genetics” Removing both KLK5 and KLK7 proteins can prevent death and skin issues in Netherton syndrome.
April 2018 in “Journal of Investigative Dermatology” The protein DDX6 helps keep skin cells renewing properly by controlling the production of certain other proteins and breaking down those that cause cells to mature too quickly.
June 2005 in “Journal of Investigative Dermatology” A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
2 citations
,
January 2017 in “Folia biologica” The KRTAP7-1 gene is very similar across different cattle and yak breeds and likely plays a role in hair strength and shape.
9 citations
,
February 2018 in “The Journal of Dermatology” A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
July 2024 in “Journal of Investigative Dermatology” A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
25 citations
,
September 2014 in “SpringerPlus” Sheep have a unique gene, KAP8-2, that humans don't have, which may affect wool properties.
November 2023 in “Biology” N6-methyladenosine affects hair follicle development differently in Rex and Hycole rabbits.
28 citations
,
February 2010 in “Experimental Dermatology” The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.
6 citations
,
May 2012 in “Archives of Dermatological Research” A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
62 citations
,
January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” A second domain of high sulfur KAP genes on chromosome 21q23 is crucial for hair structure.
131 citations
,
March 2004 in “The American journal of pathology” Modulating BMP activity changes the number, size, shape, and type of ectodermal organs.
18 citations
,
June 2017 in “Proceedings of the National Academy of Sciences of the United States of America” A gene called Gk5 controls lipid production in the skin and affects hair growth.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Deleting the CD271 gene in mouse skin cells leads to disorganized skin and increased hair growth, suggesting CD271 is important for skin health.
73 citations
,
December 2015 in “Nature Genetics” Mutations in TBX3 cause horses to have more even hair color instead of Dun camouflage.
1 citations
,
July 2006 in “Journal of Investigative Dermatology” A 4kb fragment of the desmocollin 3 promoter targets gene expression to specific skin and hair follicle areas.
10 citations
,
November 2008 in “Veterinary Dermatology” The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.
Keratinocytes can reverse the effects of the GNAQ oncogene, inhibiting melanoma cell growth.
2 citations
,
September 2022 The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
50 citations
,
February 2016 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.