November 2022 in “Journal of Investigative Dermatology” Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.
26 citations
,
December 1999 in “Journal of Investigative Dermatology” Certain genes are linked to wool follicle structure and function, but not hair cycle regulation.
66 citations
,
December 1999 in “Journal of Investigative Dermatology” New mutations in the hairless gene may cause hair loss and affect bone development.
Plakophilin 1 helps control skin cell immune responses to prevent excessive inflammation.
Amino acid storage proteins are essential for maintaining stem cells in female fruit flies.
119 citations
,
November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
April 2023 in “Journal of Investigative Dermatology” Dkk4 protein helps control how hair grows and its arrangement.
2 citations
,
October 2023 in “PubMed” Scientists created a cell model to study and find treatments for a skin disease called RDEB.
2 citations
,
April 2010 in “The Open Dermatology Journal” Corneodesmosin is essential for skin and hair health, and its dysfunction can lead to skin and hair disorders.
July 2025 in “Journal of Investigative Dermatology” 
87 citations
,
September 2019 in “Nature Communications” SOX11 and SOX4 help skin cells act like embryonic cells to heal wounds in mice.
7 citations
,
April 2000 in “Mammalian Genome” A new mutation in mice causes crooked whiskers and messy hair.
1 citations
,
September 2019 in “Journal of Investigative Dermatology” The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
12 citations
,
January 2000 in “Biochemical and Biophysical Research Communications” The study mapped keratin 15 and 19 genes, aiding future genetic disorder research.
11 citations
,
January 2005 in “Brazilian Journal of Medical and Biological Research” Hairless USP mice have enlarged skin cysts as they age.
December 2022 in “Frontiers in plant science” CCDC22 and CCDC93 are essential for root and root hair growth in Arabidopsis.
January 2007 in “Journal of Southwest University” The ND1 gene of the Asian black bear Sichuan subspecies is similar to other bear species.
30 citations
,
June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
3 citations
,
February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
22 citations
,
June 2020 in “iScience” Sox21 is crucial for tooth development and enamel formation by preventing cells from changing into a different type.
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.
5 citations
,
June 2008 in “British Journal of Dermatology” 
March 2024 in “Research Square (Research Square)” Twist2 is essential for proper skin healing and hair growth in developing mice.
22 citations
,
March 1994 in “Journal of Heredity” A mutation in mice causes hair loss and immune problems.
76 citations
,
January 1998 in “Mammalian Genome” 
40 citations
,
December 2012 in “PLoS ONE” The study explored the role of Ctip2/Bcl11b in epidermal keratinocytes by selectively deleting it in adult mice, leading to atopic dermatitis-like skin inflammation characterized by alopecia, pruritus, and immune cell infiltration. The absence of Ctip2 resulted in increased expression of Th2-type cytokines and chemokines, such as TSLP, CCL17, IL13, and IL4, which are crucial in inflammatory skin diseases. The findings highlighted Ctip2's essential role in maintaining skin barrier function and suppressing inflammatory responses, suggesting its potential involvement in atopic dermatitis pathogenesis and providing a model for further research into therapeutic strategies.
January 2025 in “Repository of Digital Objects for Teaching Research and Culture (University of Valencia)” Non-coding RNAs may be key in diagnosing and treating rare skin disorders.
1 citations
,
January 2022 in “Cell Biology International” Changing CDK4 levels affects the number of stem cells in mouse hair follicles.
January 2026 in “Non-coding RNA Research” Exosomal miRNA-218-5p promotes hair growth and development.
44 citations
,
February 2012 in “The journal of neuroscience/The Journal of neuroscience” Mutations in the PTPRQ gene cause significant balance issues in mice due to hair bundle defects in the inner ear.