28 citations
,
December 1997 in “Journal of Biological Chemistry” A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
6 citations
,
January 2025 in “Differentiation” WNT10A is important for tissue development and linked to various human disorders.
1 citations
,
March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
30 citations
,
January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
6 citations
,
May 2016 in “Experimental Dermatology” The type of tumor suppressor gene lost affects the behavior of skin cancer.
86 citations
,
May 2002 in “Journal of Investigative Dermatology” A new keratin, hK6irs1, is found in all layers of the hair follicle's inner root sheath.
2 citations
,
August 2020 in “Scientific reports” Genes related to keratin, skin cell differentiation, and immune functions are key in hedgehog skin and spine development.
15 citations
,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with extra human KLK14 had hair and skin problems, including weaker cell bonds and inflammation, linked to Netherton syndrome.
January 2023 in “European journal of gynaecological oncology” KRT17 may be a new target for endometrial cancer treatment because it helps cancer cells move and form new blood vessels.
4 citations
,
January 2021 in “Journal of Clinical Medical Research” c-Kit is important for heart regeneration and cancer development.
14 citations
,
December 1998 in “British Journal of Cancer” Truncated hHb1 keratin may play a role in breast cancer cell transformation.
20 citations
,
August 2017 in “PLoS ONE” 61 functional keratin genes were identified in dogs and horses, leading to updated gene annotations.
88 citations
,
June 2000 in “Journal of Investigative Dermatology” Keratin 17 is important for hair and nail structure and affects pachyonychia congenita symptoms.
20 citations
,
April 2014 in “Autoimmunity” A specific gene variant (rs4833095) is linked to a higher risk of alopecia areata in Koreans.
October 2024 in “Frontiers in Oncology” Keratin 18 helps diagnose and predict cancer progression and affects cancer growth and spread.
74 citations
,
October 2012 in “The American Journal of Human Genetics” Mutations in the HOXC13 gene cause hair and nail development issues.
KRTAP6 genes affect wool quality in sheep.
54 citations
,
November 2015 in “Methods in enzymology on CD-ROM/Methods in enzymology” Keratins are important for skin cell health and their problems can cause diseases.
17 citations
,
November 2017 in “Asian-Australasian journal of animal sciences” Certain gene mutations are linked to wool quality in sheep and could help in breeding for better wool.
18 citations
,
November 2005 in “Archives of Dermatological Research” July 2024 in “Journal of Investigative Dermatology” A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
61 citations
,
September 1994 in “Journal of Medical Genetics” Pachyonychia congenita is linked to a keratin gene on chromosome 17.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” GATA6 is important for maintaining and differentiating cells in a key area of human skin.
12 citations
,
December 2013 in “Immunological Investigations” The SNP rs6457452 is linked to a higher risk of alopecia areata in Koreans.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
79 citations
,
October 1998 in “Genomics” Mouse keratin 6 genes evolved independently from human ones and are regulated differently.
11 citations
,
July 2022 in “Frontiers in Immunology” Four specific genes are linked to keloid formation and could be potential treatment targets.
Lnc056 helps hair follicle stem cells grow by increasing TRIP6 expression.
4 citations
,
January 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A faulty KLHL24 gene leads to hair loss by damaging hair follicle stem cells.
January 2004 in “Molecular biotechnology”