31 citations
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April 2004 in “Journal of Investigative Dermatology” A new mouse gene, Keratin 17n, is mainly found in nail tissue and may explain why mice without Keratin 17 don't have nail issues.
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
January 2015 in “Journals & Books Hosting (International Knowledge Sharing Platform)” Compound 1 showed promising anticancer activity.
April 2018 in “Journal of Investigative Dermatology” Mutations in Far2 mice cause hair loss due to sebaceous gland issues.
November 2019 in “Harper's Textbook of Pediatric Dermatology” Mutations in keratin genes cause skin, hair, and nail disorders, with future treatments possible.
11 citations
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February 2018 in “Oncotarget” Lower SMAD2/3 activation predicts more severe skin cancer.
7 citations
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March 2022 in “The FASEB journal” Adult mice with CBS deficiency show minimal health issues and normal lifespan despite high homocysteine levels.
October 2024 in “Journal of the Endocrine Society” Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
ETS2 drives cancer progression in squamous cell carcinoma and is linked to poor patient outcomes.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
June 2025 in “Molecular Genetics & Genomic Medicine” Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
June 2005 in “Journal of Investigative Dermatology” A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
2 citations
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January 2000 in “Journal of Toxicologic Pathology” A single recessive gene causes sparse hair in certain Japanese White rabbits.
13 citations
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April 1994 in “Baillière's clinical endocrinology and metabolism” Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
1 citations
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January 2015 in “The Journal of Dermatology” Genetic testing is crucial for diagnosing and managing non-Herlitz junctional epidermolysis bullosa.
1 citations
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June 2025 in “Journal of Allergy and Clinical Immunology Global” A young boy with Netherton syndrome improved significantly using IVIG, dupilumab, and dietary changes.
March 2023 in “JAAD case reports” A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
36 citations
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September 2015 in “Forensic Science International: Genetics” Certain DNA variants can predict straight hair in Europeans but are not highly specific.
4 citations
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May 2023 in “Pigment Cell & Melanoma Research” BMI1 is essential for preventing hair greying and maintaining hair color.
September 2022 in “Research Square (Research Square)” 5% topical minoxidil improves hair density and quality in monilethrix patients.
33 citations
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March 1994 in “PubMed” High ODC and low K1 and K10 may indicate early skin tumors in mice.
37 citations
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January 2010 in “Journal of Clinical Investigation” N-WASP is essential for normal hair growth in mice.
14 citations
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July 2015 in “International Journal of Molecular Sciences” S-Methylmethionine sulfonium can protect skin from UVB damage.
November 2024 in “Journal of Investigative Dermatology” 4 citations
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January 1976 in “Archives of Dermatological Research” Metabolic disorders can cause hair structure defects and growth issues, but amino acid levels in hair remain normal.
September 2024 in “Frontiers in Genetics” A specific genetic marker is linked to male pattern baldness in Han Chinese men.
8 citations
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April 2018 in “Journal of the European Academy of Dermatology and Venereology” Certain genetic variations can make people more likely to experience hair loss and low white blood cell count from azathioprine.
3 citations
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January 2021 in “Veterinary dermatology” A litter of cats had a hair condition similar to a mouse mutation, leading to hair loss and abnormal hair and skin.
14 citations
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July 1994 in “Journal of Dermatological Science” Keratin mutations may cause scarring alopecia by damaging hair structure.
March 2009 in “European Urology Supplements”