Deleting Smad4 and PTEN genes in mice causes rapid, invasive forestomach cancer.
5 citations
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February 2019 in “The New England Journal of Medicine” Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.
1 citations
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February 2013 in “Clinical pediatrics” The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
10 citations
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July 2001 in “PubMed” A new type of pachyonychia congenita may exist, caused by a different keratin mutation.
20 citations
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November 2003 in “American Journal Of Pathology” Fibroblasts from healthy donors can prevent changes seen in recessive epidermolysis bullosa simplex.
2 citations
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March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” A new type of hereditary hair loss in a Chinese family is linked to chromosome 2p25.1–2p23.2.
1 citations
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January 2020 in “Benha Journal of Applied Sciences” Certain gene variations may increase the risk and severity of alopecia areata.
Defective nuclear transport may cause gene expression changes in Progeria.
52 citations
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September 2012 in “Oncogene” March 2026 in “The Journal of Steroid Biochemistry and Molecular Biology” Deleting vitamin D and calcium receptors in skin cells increases skin cancer risk by reducing DNA repair and stress response.
15 citations
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November 2022 in “Cell Death and Disease” CEP135 may predict cancer outcomes, and targeting PLK1 could help treat certain sarcomas.
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” The gene Prss53 affects hair shape and bone development in rabbits.
July 2025 in “Journal of Investigative Dermatology” 29 citations
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October 2010 in “Journal of Investigative Dermatology” Activating Kras in mouse skin causes excess skin and hair loss.
Ribonucleotide excision repair is crucial to prevent skin cancer.
October 2025 in “Journal of the Endocrine Society” A rare pituitary tumor in an 18-year-old male caused hormonal issues and vision loss, requiring surgery and further treatment.
10 citations
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March 1997 in “Pediatric Dermatology” A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
February 2023 in “Cosmoderma” An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
10 citations
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January 2016 in “Dermatology” People with myotonic dystrophy type 1 tend to develop basal cell carcinoma at a younger age but not more frequently than others.
1 citations
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October 2024 in “Canine Medicine and Genetics” The MLPH gene is not linked to seasonal hair loss in Rhodesian Ridgeback dogs.
Vismodegib effectively treats advanced basal cell carcinoma but requires careful management of serious side effects.
26 citations
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December 2011 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
91 citations
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May 2005 in “The Journal of Clinical Endocrinology & Metabolism” A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
April 2017 in “Journal of Investigative Dermatology” Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
74 citations
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October 1998 in “Journal of biological chemistry/The Journal of biological chemistry” The 190-kbp domain contains all human type I hair keratin genes, showing their organization and evolution.
April 2015 in “Experimental Dermatology” Melanoma risk tools need improvement, certain gene mutations cause skin diseases and could be treated by targeting those mutations, skin wrinkling may relate to lung aging due to genetic factors, and oxidative stress affects hair loss but can be reduced in low oxygen.
29 citations
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October 2019 in “Journal of dermatological science” Studying premature aging syndromes helps understand human aging and suggests potential treatments.
185 citations
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December 2010 in “Archives of Biochemistry and Biophysics” Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.
6 citations
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July 2015 in “Journal of Investigative Dermatology” Chicken feather gene mutation helps understand human hair disorders.
December 2004 in “SUNScholar (Stellenbosch University)” Certain genetic markers can indicate a person's risk of developing prostate cancer.