166 citations
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February 2005 in “Behavioural brain research” Vitamin D receptor knockout mice have significant motor impairments but no cognitive deficits.
April 2023 in “Journal of Investigative Dermatology” Human TMEM2 does not break down hyaluronan but helps control its metabolism.
1 citations
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January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Dicer is crucial for hair growth in mice.
88 citations
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August 2014 in “PLOS genetics” Syndecan-1 is essential for maintaining skin fat and preventing cold stress.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
31 citations
,
July 2004 in “Molecular Medicine” Certain defective glucocorticoid receptor mutants move faster inside cell nuclei and work less effectively.
May 2025 in “Experimental Dermatology” A new genetic tool improves the study of hair growth and potential hair disorder treatments.
January 2012 in “ScholarlyCommons (University of Pennsylvania)” miRNAs are crucial for hair growth and skin health.
23 citations
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July 2016 in “JAMA Ophthalmology” CDH3-related disease causes worsening eye and hair issues.
April 2026 in “Proceedings of the National Academy of Sciences” Tmem30b is essential for hearing by maintaining hair cell structure in the ear.
210 citations
,
February 2008 in “Nature genetics” Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
4 citations
,
February 2023 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” The study found that certain mutations in the vitamin D receptor can cause rickets and potentially affect hair growth.
91 citations
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November 2008 in “Journal of biological chemistry/The Journal of biological chemistry” DGAT1 enzyme is crucial for healthy skin and hair by regulating retinoid levels.
42 citations
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May 1997 in “The Journal of Biochemistry” PAD type III enzyme is specific to rat skin and hair follicles.
8 citations
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January 2013 in “genesis” Zfp157 is active in many mouse tissues during development and in specific adult cells.
13 citations
,
February 2012 in “International Journal of Dermatology” A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
33 citations
,
February 2016 in “Journal of Experimental Botany” ROOT HAIR SPECIFIC 10 (RHS10) reduces the length of root hairs in Arabidopsis plants.
7 citations
,
January 2025 in “Journal of Experimental & Clinical Cancer Research” PRMT5 inhibitors effectively fight adenoid cystic carcinoma in salivary glands.
46 citations
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November 2019 in “Journal of Integrative Plant Biology” CaM7 and CNGC14 interaction controls root hair growth in Arabidopsis.
March 2025 in “International Journal of Molecular Sciences” The study created a mouse model to better understand hair follicle stem cells' role in hair growth and repair.
53 citations
,
July 2002 in “Journal of Investigative Dermatology” The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.
112 citations
,
August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
35 citations
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May 2006 in “Journal of Investigative Dermatology” Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
April 2024 in “Cellular signalling” Activating TRPMLs helps human cells important for hair growth and increases hair growth in mice.
January 2020 in “Työväentutkimus Vuosikirja” Corneal health relies on cell migration and cooperation with the lacrimal gland, not Bmi1+ cells, and Eda gene mutations can cause dry eye disease.
56 citations
,
February 2012 in “Developmental biology” Sostdc1 controls the size and number of hair and mammary gland structures.
4 citations
,
April 2019 in “JAAD Case Reports” DPR can cause skin, hair, and nail issues, sometimes appearing later in life.
37 citations
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April 2010 in “FEBS Letters” The study concludes that the EDA2R gene is activated by p53 during chemotherapy but is not necessary for chemotherapy-induced hair loss.
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.