188 citations
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June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
86 citations
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August 2011 in “Toxicological sciences” TCDD speeds up skin barrier formation by increasing certain gene expressions.
Deleting the MAD2L1 gene is tolerated in certain mouse cancer models.
2 citations
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January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
December 2022 in “Curēus” Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.
1 citations
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August 2019 in “Journal of pediatric & adolescent gynecology” A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
47 citations
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February 2014 in “Journal of Cutaneous Pathology” Matrical tumors share a common growth mechanism involving the Wnt pathway and consistent PHLDA1 expression.
10 citations
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November 2018 in “Genetics in medicine” Lack of cystatin M/E causes thin hair and dry skin.
April 2010 in “Cancer Research” CDK4 levels affect the number of hair follicle stem cells in mice.
3 citations
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June 2002 in “Transgenic Research” Scientists made a mouse that can be made to lose hair and then grow it back.
1 citations
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January 2023 in “Burns & Trauma” Wnt4 protein makes the outer skin layer thicker in burn wounds by turning on a specific healing pathway and loosening the connections between skin cells.
1 citations
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October 2022 in “JCI insight” Deleting the BRD4 protein in certain skin cells causes hair loss and skin inflammation.
February 2024 in “Planta” TRM21 helps control flavonoid production and root hair growth in Arabidopsis thaliana.
2 citations
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May 2020 in “Journal of the American Academy of Dermatology” Hair shaft changes may be linked to CCCA, but their role is unclear.
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
July 2025 in “Human Genomics” New LSS gene variants help understand congenital hypotrichosis 14 better.
8 citations
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May 2017 in “IUBMB life” Astrotactin proteins are important for brain and skin development and are linked to several neurodevelopmental disorders.
11 citations
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September 2011 in “British Journal of Dermatology” New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
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November 2015 in “Carcinogenesis” Deleting TNFα gene reduces skin cancer risk in certain mice.
43 citations
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April 1996 in “Journal of Investigative Dermatology” Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.
February 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Activating TLR9 helps heal large wounds and regrow hair by involving a specific type of immune cell.
June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” The gene Tfap2b is essential for creating a type of stem cell in zebrafish that can become different pigment cells.
117 citations
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April 2008 in “Developmental biology” Ectodysplasin inhibits Wnt signaling to help form hair follicles.
44 citations
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April 2013 in “Proceedings of the National Academy of Sciences of the United States of America” FGF13 gene changes cause excessive hair growth in a rare condition.
19 citations
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July 1997 in “British Journal of Dermatology” LHTric-1 is a specific antibody useful for studying hair and nail formation.
November 2025 in “Journal of Investigative Dermatology” Skin-associated cartilage cells can influence hair growth by altering specific signaling pathways.
184 citations
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September 2006 in “PLoS Genetics” The Apc gene is crucial for normal skin and thymus development.
19 citations
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July 2020 in “EBioMedicine” A gene variant increases the risk of a type of hair loss by affecting hair protein production.
1 citations
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November 2018 in “immuneACCESS” Expanded CD8+ T cells are linked to Alopecia Areata and may cause relapse after treatment.