7 citations
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November 2014 in “Histochemistry and Cell Biology” The we/we wal/wal mice have defects in hair growth and skin layer formation, causing hair loss, useful for understanding alopecia.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
November 2024 in “Biochemical and Biophysical Research Communications” Abnormal gene expression related to keratin causes hair loss in certain mice.
50 citations
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July 1996 in “Cell” Chromosomal changes, including those in the WRN gene and rDNA, may significantly contribute to aging.
68 citations
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November 2011 in “The American journal of pathology” Abnormal Hedgehog signaling in blood cancers may help tumors grow and resist chemotherapy, suggesting potential for targeted treatments.
18 citations
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May 2023 in “Science Advances” Activating the sonic hedgehog pathway in chicken embryos can permanently change scales to feathers.
161 citations
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June 1994 in “The journal of investigative dermatology/Journal of investigative dermatology” Hair stops producing melanin as it transitions from the growth phase to the resting phase.
19 citations
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April 2024 in “Nature Cell Biology”
March 2025 in “FEBS Journal” Epiprofin suppresses parathyroid hormone gene activity, helping regulate calcium levels and could be a treatment target for hyperparathyroidism.
January 2025 in “Dermatology Practical & Conceptual” A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.
July 2025 in “Genome biology” HT-scCAT-seq helps understand gene regulation in embryonic skin development.
November 2012 in “Experimental and Clinical Endocrinology & Diabetes” A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
19 citations
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April 1999 in “British Journal of Dermatology” Keratin 2e shows a unique pattern in developing fetal skin, different from other keratins.
March 2026 in “Journal of Enzyme Inhibition and Medicinal Chemistry” PROTACs show promise in cancer treatment by effectively degrading specific harmful proteins.
Cialis and Finasteride could be repurposed to treat aggressive melanoma.
189 citations
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July 2009 in “The Journal of clinical investigation/The journal of clinical investigation” Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
17 citations
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August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
5 citations
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October 2017 in “Cellular Reprogramming” Inhibiting HSP90 increases cell adaptability and survival under stress.
99 citations
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February 2000 in “PubMed” Overexpressing PKCepsilon in mice reduces papillomas but increases carcinomas.
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.
April 2016 in “Journal of Investigative Dermatology” Sonic hedgehog signaling is needed for the development of touch-receptor cells in the skin, and the loss of Polycomb repressive complex 2 can lead to more of these cells.
November 2022 in “Journal of Investigative Dermatology” Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.
53 citations
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August 2019 in “American journal of human genetics” FOXN1 gene variants cause low T cells and immune issues from birth.
January 2018 in “eScholarship (California Digital Library)” Hair follicle stem cells may cause squamous cell carcinoma due to a metabolic shift towards glycolysis.
28 citations
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December 1997 in “Journal of Biological Chemistry” A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
14 citations
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September 1999 in “Mammalian genome” The scraggly mutation causes hair loss and skin defects in mice.
4 citations
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January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
Deleting Smad4 and PTEN genes in mice causes rapid, invasive forestomach cancer.
97 citations
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March 2002 in “Molecular and cellular biology” Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
52 citations
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February 2012 in “PloS one” Lack of Ctip2 in skin cells delays wound healing and disrupts hair follicle stem cell markers in mice.