A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
August 2022 in “Frontiers in genetics” A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
July 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The structure of SRD5A reveals how it reduces steroids, aiding drug design for related health conditions.
April 2008 in “Expert review of dermatology” Mutations in the P2RY5 gene cause hereditary woolly hair.
33 citations
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October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
July 2025 in “Genome biology” HT-scCAT-seq helps understand gene regulation in embryonic skin development.
115 citations
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March 2019 in “Nature Communications” Frontal fibrosing alopecia is linked to four genetic areas, especially the HLA-B*07:02 allele.
March 2024 in “Research Square (Research Square)” Sex steroids affect the MafB gene differently in male and female hamsters.
The balance between cell renewal and differentiation controls the growth of cancerous cells in mouse skin.
301 citations
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May 1998 in “Genes & Development” Ets2 gene is crucial for placental development in mice.
7 citations
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February 2011 in “Journal of dermatology” The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
9 citations
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August 2013 in “PLOS ONE” Genetic variants at 20p11 increase baldness risk in Chinese Han people.
November 1997 in “Open Archive (Karolinska Institutet)” PTCH gene mutations contribute to basal cell carcinoma development.
September 2025 in “Stem Cell Research & Therapy” TAZ boosts fat cell formation in goat stem cells by activating a specific signaling pathway.
May 2018 in “The journal of immunology/The Journal of immunology” Mutations in the FOXN1 gene cause severe immune issues but don't affect hair and nails.
34 citations
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November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
January 2022 in “Mammalian Genome” The wavy coat in NCT mice is caused by multiple genes, including a mutation in the Prss53 gene.
6 citations
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July 2024 in “Heliyon” Steroid 5α-reductase evolved from protists and diversified in eukaryotes, with specific roles in mammals and plants.
May 2005 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Truncated LTBP-1 disrupts TGF-beta signaling, affecting hair growth.
150 citations
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June 1999 in “Oncogene” February 2026 in “Applied Biosciences” The study found potential new DNA patterns in fertility genes, but further testing is needed.
100 citations
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December 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Researchers mapped and categorized specific keratin-associated protein genes on human chromosome 21q22.1.
12 citations
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March 2021 in “Journal of Investigative Dermatology” TRPM5 is crucial for maintaining hair growth.
8 citations
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June 2001 in “Journal of Biological Chemistry” A truncated protein linked to breast cancer may change cell adhesion.
43 citations
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April 2010 in “Clinical genetics” Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
ETS2 drives cancer progression in squamous cell carcinoma and is linked to poor patient outcomes.
2 citations
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January 2025 in “Development” BMP5 is essential for ear cartilage cell growth in rodents.
2 citations
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August 2022 in “Viruses” Skin cancer often starts from Lgr5+ progenitor cells.
1 citations
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June 2025 in “Stem Cell Reviews and Reports”