May 2024 in “Frontiers in medicine” A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.
November 2019 in “Harper's Textbook of Pediatric Dermatology” Mutations in keratin genes cause skin, hair, and nail disorders, with future treatments possible.
The KRTAP36-1 gene affects wool quality in Chinese Tan lambs.
March 2011 in “European Urology Supplements” Gene variation affects prostate issues and hair loss.
5 citations
,
July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
6 citations
,
January 2014 in “Clinical hemorheology and microcirculation” Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
3 citations
,
March 2016 in “Experimental Dermatology” A mutation in the hairless gene speeds up severe itchy skin in mice on a special diet.
3 citations
,
December 2021 in “Recent patents on anti-cancer drug discovery” SET7/9 enzyme affects cell growth and diseases like cancer, diabetes, and obesity.
February 2013 in “Journal of Visualized Experiments” The document's conclusion cannot be provided because the document is not available for analysis.
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.
36 citations
,
January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
12 citations
,
March 2011 in “Journal of pathology” Oncogenic K-ras causes rapid cancerous changes in the mouth's lining.
15 citations
,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with extra human KLK14 had hair and skin problems, including weaker cell bonds and inflammation, linked to Netherton syndrome.
46 citations
,
August 2006 in “PubMed” A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
12 citations
,
February 2008 in “Journal of The American Academy of Dermatology” Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
42 citations
,
January 2017 in “Genes” The gene KAP22-1 affects wool yield and fiber shape in sheep.
November 2005 in “PubMed” The hairless gene in Kunming mice is important for hair and skin, and shows genetic variations.
March 2007 in “Journal of Cell Science” K10 may not prevent tumors as previously thought and might increase benign tumor risk.
27 citations
,
July 1997 in “PubMed” The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
8 citations
,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
62 citations
,
January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” A second domain of high sulfur KAP genes on chromosome 21q23 is crucial for hair structure.
April 2012 in “Cancer Research” EGFR deficiency in skin causes hair follicle issues and inflammation.
November 2024 in “Journal of Investigative Dermatology” Blocking the JAK/STAT pathway may help reduce skin sensitivity in Xeroderma pigmentosum.
September 2023 in “HAL (Le Centre pour la Communication Scientifique Directe)” Peptide nanoparticles can effectively deliver CRISPR-Cas9 to target KRAS mutations in cancer.
149 citations
,
July 2000 in “Molecular and Cellular Biology” Keratin 6a is important for quick wound healing from hair follicles.
1 citations
,
September 2023 in “Animals” A new goat gene affects cashmere fiber thickness; certain variations can make the fibers coarser.
133 citations
,
June 1993 in “Molecular and Cellular Biology” The human K5 promoter controls specific gene expression in skin cells, with key regulatory elements near the TATA box.
92 citations
,
February 2005 in “Journal of Investigative Dermatology”
65 citations
,
September 2010 in “Journal of the Neurological Sciences” Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
11 citations
,
October 2007 in “Journal of Investigative Dermatology” Mutations in the Sgk3 gene cause fuzzy hair in mice.