28 citations
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February 2012 in “PLoS ONE” A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” SETDB1 is essential for controlling DNA methylation, silencing retrotransposons, and maintaining skin cell health, with its absence leading to skin inflammation and hair loss.
1 citations
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January 2015 in “Journal of clinical case reports” KFSD causes scarring hair loss and skin roughness, mainly in males.
45 citations
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May 2003 in “Journal of Cell Science” α3β1-integrin is crucial for maintaining normal hair follicle shape and function but not needed for the development of the surrounding skin.
49 citations
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May 1974 in “Biochimica et Biophysica Acta (BBA) - Protein Structure” Transamidases are present in the epidermis but their exact role is unclear.
August 2019 in “Journal of Investigative Dermatology” The study found that tight junctions reach the top layer of the skin's stratum granulosum, not just the second top layer as previously thought.
5 citations
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February 2019 in “PloS one” Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.
88 citations
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May 2005 in “Journal of Dermatological Science” Versican, a protein, is less present in thinning hair follicles and this decrease might contribute to common hair loss in men.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” The early genes of a specific virus can cause abnormal skin cell growth and hair follicle changes.
Keratin hydrogels from human hair show promise for tissue engineering and regenerative medicine.
49 citations
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April 2007 in “Pediatric Dermatology” Biotin improved hair appearance in uncombable hair syndrome but didn't change hair structure.
59 citations
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July 1972 in “Biochemistry” Transamidases help form strong crosslinks in hair proteins, crucial for hair strength.
36 citations
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July 1988 in “Archives of Dermatological Research” Pili annulati is caused by a protein metabolism disorder affecting hair structure.
83 citations
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May 2011 in “European Journal of Dermatology” Corneodesmosin is crucial for skin and hair health, and its dysfunction can cause skin and hair disorders.
30 citations
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January 1994 in “Micron” Mature hair surfaces are formed by keratinized cells with developed layers, not just modified plasma membranes.
99 citations
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October 2008 in “Journal of Investigative Dermatology” Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
28 citations
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July 2000 in “PubMed” Hair structure forms the same way inside and outside the body.
April 2023 in “Journal of Investigative Dermatology” A protein called MPZL3 in mitochondria slows down hair growth and could be a target for treating hair growth disorders.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” A unique gene mutation was found in a family with monilethrix.
54 citations
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March 2009 in “BioEssays” Hormones control keratin production in skin and hair.
January 2026 in “British Journal of Dermatology” ELF5 is essential for skin cell growth and maintenance.
44 citations
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January 2004 in “American journal of clinical dermatology” Understanding genetic mutations helps diagnose and treat skin disorders like ichthyosis.
42 citations
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July 2007 in “Journal of Biological Chemistry” Most Hairless gene mutations reduce its ability to work with the Vitamin D Receptor, which might explain a certain type of hair loss.
6 citations
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July 2017 in “Biochemical and Biophysical Research Communications” The Hairless gene is crucial for hair cell development, affecting whether skin cells become hair or skin and oil gland cells.
37 citations
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May 1998 in “Journal of Dermatological Science” Basal cell carcinoma shows keratin patterns similar to undifferentiated hair follicle cells.
20 citations
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January 2002 in “Laboratory Animals” Mutations in the hairless gene cause hair loss and skin cysts in rhesus macaques.
29 citations
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July 2003 in “Experimental Dermatology” The upper hair follicle is stable, while the lower part allows movement during hair growth.
Giant axonal neuropathy changes the structure of keratin in human hair, making it stiffer and stronger.
21 citations
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March 2018 in “American Journal Of Pathology” Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.