CaBP1 and 2 are important for maintaining the activity of calcium channels necessary for hearing in inner ear cells.
3 citations
,
December 2021 in “Proteins” Wool fiber curliness is linked to the presence of certain proteins and K38.
24 citations
,
February 2011 in “The American journal of pathology” AIRE protein, defective in APECED patients, is found in skin and hair cells and interacts with cytokeratin 17.
46 citations
,
May 1995 in “Proceedings of the National Academy of Sciences” A specific gene region can control targeted and responsive gene expression in mice, useful for skin disorder treatments.
15 citations
,
September 2002 in “Journal of Biological Chemistry” Abnormal keratin expression in mice causes severe oral issues, affecting feeding.
May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
111 citations
,
June 2002 in “The EMBO Journal” Too much Smad7 can cause serious changes in skin tissues, including problems with hair growth, thymus shrinkage, and eye development issues.
3 citations
,
December 2013 in “Journal of Cell Science” Keratin 79 cells help form and regenerate hair canals.
77 citations
,
February 2001 in “Journal of Dermatological Science” HGF activator helps convert HGF to its active form, promoting hair growth.
387 citations
,
November 2003 in “Journal of Investigative Dermatology” The K15 promoter effectively targets stem cells in the hair follicle bulge.
84 citations
,
April 2002 in “Archives of Dermatology” Loose anagen hair syndrome may be caused by keratin gene mutations.
28 citations
,
February 2014 in “Journal of Cutaneous Pathology” Keratoacanthoma changes as it grows, showing different hair follicle characteristics at each stage.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.
January 1999 in “Journal of the European Academy of Dermatology and Venereology” RAPK is a rare skin disorder with pigmented spots, mainly on hands and feet, starting in youth.
27 citations
,
April 2018 in “Scientific Reports” Psoriasis patients' immune response to a hair protein depends on their specific gene type.
10 citations
,
August 2023 in “The EMBO Journal” Kdm6b is crucial for skin cell differentiation.
22 citations
,
December 2013 in “Molecular biology of the cell” ILK is essential for proper hair follicle development and structure.
9 citations
,
December 2018 in “Journal of Natural Fibers” Magra sheep's wool luster is linked to specific keratin gene expression and protein variations.
April 2023 in “Journal of Investigative Dermatology” Dkk4 protein helps control how hair grows and its arrangement.
40 citations
,
September 2004 in “Biomacromolecules” The Glu413Lys mutation in keratin affects hair stability, while Glu413Asp does not.
28 citations
,
November 2013 in “Cell and Tissue Research” May 2025 in “Dermatology Reports” A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
A genetic variant in the KRT71 gene may cause loose anagen hair and wooly hair, and symptoms might improve with age.
186 citations
,
December 2012 in “Current opinion in cell biology” Keratin proteins are increasingly recognized as important for cell health and are linked to many diseases.
112 citations
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January 2013 in “Experimental dermatology” Faulty Notch signalling may cause hair follicle changes and inflammation in hidradenitis suppurativa.
8 citations
,
January 2014 in “Indian Journal of Paediatric Dermatology” Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
1 citations
,
November 2023 in “Journal of Microbiology and Biotechnology” Immortalized human dermal papilla cells were created that grow better and can still help form hair.
10 citations
,
January 2010 in “Veterinary pathology” A new mutation in the hairless gene causes hair loss and skin wrinkling in mice.