March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
22 citations
,
September 2011 in “Journal of Investigative Dermatology” TCF/Lef1 is essential for skin barrier function by regulating lipid metabolism.
July 2025 in “Clinical Case Reports” A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
199 citations
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April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
February 2026 in “bonndoc (University of Bonn)” New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
354 citations
,
February 2011 in “Genes & Development” EZH1 and EZH2 are crucial for healthy hair growth and skin repair.
555 citations
,
July 2001 in “Genes & Development” Tcf3 and Lef1 are key in deciding skin stem cell roles.
January 1993 in “Claves de razón práctica” ROR2 is crucial for hair follicle stem cell maintenance and self-renewal.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” MOF controls skin development by regulating genes for mitochondria and cilia.
73 citations
,
December 2015 in “Nature Genetics” Mutations in TBX3 cause horses to have more even hair color instead of Dun camouflage.
132 citations
,
February 2002 in “Journal of Biological Chemistry” HOXC13 is crucial for regulating hair keratin genes in hair follicles.
53 citations
,
May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
November 1997 in “Open Archive (Karolinska Institutet)” PTCH gene mutations contribute to basal cell carcinoma development.
May 2023 in “The Journal of Immunology” BST2 is a key marker for hair loss disease alopecia areata.
May 2024 in “British journal of dermatology/British journal of dermatology, Supplement” CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.
June 2003 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” GLABRA2 represses root hair formation by inhibiting a specific gene.
2 citations
,
August 2021 in “Animal Cells and Systems” Egfl6 is not needed for zebrafish face development.
32 citations
,
January 2000 in “Human Heredity” Monilethrix severity varies and may be influenced by other genetic or environmental factors.
3 citations
,
November 2019 in “Journal of the ASEAN Federation of Endocrine Societies” A 20-year-old woman with a rare form of Turner syndrome showed improvement with hormonal therapy and needs comprehensive care.
6 citations
,
February 2022 in “The journal of neuroscience/The Journal of neuroscience” Deleting the PTEN gene in mice causes nerve cells to grow larger and heal better after injury, but may cause overgrowth and hair loss in older mice.
1 citations
,
June 2025 in “Frontiers in Genetics” Key genes IRF2BP2 and EGFR are linked to Hetian sheep's double-coat fleece.
36 citations
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March 2019 in “European Journal of Human Genetics” The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
16 citations
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December 2019 in “Animals” Overexpressing Tβ4 in goats' hair follicles increases cashmere production and hair follicle growth.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
5 citations
,
October 2020 in “Frontiers in Cell and Developmental Biology” Reducing FOXA2 in skin cells lowers their ability to grow hair.
117 citations
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August 1999 in “Nature Genetics” 62 citations
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March 2017 in “Journal of Investigative Dermatology” Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
December 2023 in “Journal of ethnopharmacology” Tribuloside can increase skin pigmentation by enhancing melanin production and distribution.
11 citations
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September 2010 in “American Journal of Medical Genetics - Part A” A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
November 2022 in “Journal of Investigative Dermatology” Scientists found a new type of skin cell that could help with skin repair and these cells work better with a certain protein.