10 citations
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January 2004 in “Journal of Investigative Dermatology” Krt6a-Cre transgenic mice help study gene effects on hair follicle development and tumor suppression.
13 citations
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July 2019 in “PLoS ONE” Deleting podoplanin in mice promotes hair growth by enhancing cell migration.
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February 2005 in “Journal of Investigative Dermatology”
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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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January 1993 in “DNA sequence” KRT2.13 gene is similar to KRT2.9 but not expressed in hair follicles.
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August 2022 in “Animals” Different versions of the KRTAP6-2 gene in goats can lead to thinner cashmere fibers.
September 2022 in “Canadian journal of animal science” Certain gene variations are linked to the thickness of cashmere goat hair.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
November 1997 in “Open Archive (Karolinska Institutet)” PTCH gene mutations contribute to basal cell carcinoma development.
April 2026 in “Frontiers in Cell and Developmental Biology” CD200- cells in hair follicles have a higher ability to regenerate hair.
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January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
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May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
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November 2024 in “Egyptian Journal of Medical Human Genetics” SGK1 is important in cancer growth and treatment resistance, and targeting it could improve therapies.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
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August 1998 in “FEBS Letters” Two new enzymes, PAD-R11 and PAD-R4, were cloned and showed activity, with PAD-R11 resembling epidermal enzymes.
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October 2022 in “Nature Communications” The DiLiCre mouse model is an effective tool for precise genome editing using light.
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January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
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June 2012 in “PloS one” Keratin 15 expression in skin cells is regulated by two mechanisms involving PKC/AP-1 and FOXM1.
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January 1992 in “Clinical Pediatric Endocrinology” Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
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March 2015 in “Stem Cell Research & Therapy” ABCG2 protein marks stem-like skin cells in human epidermis.
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October 2008 in “Nature Genetics” 15 citations
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June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
CD28 is a promising target for treating alopecia areata with belatacept.
CD28 is a promising target for treating alopecia areata with belatacept.
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January 2020 in “Advances in chronic kidney disease” Calcineurin inhibitors, used in kidney transplants, can cause a wide range of side effects including kidney damage and other health issues.
August 2025 in “Skin Research and Technology” 38 citations
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October 2001 in “British Journal of Dermatology” Keratin K6irs is a marker for the inner root sheath of hair follicles in mice and humans.
May 2022 in “Frontiers in Cell and Developmental Biology” miR-29a-5p prevents the formation of early hair structures by targeting a gene important for hair growth and is regulated by a complex network involving lncRNA627.1.
1 citations
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May 2004 in “Biochemical and Biophysical Research Communications” Two new gene clusters important for hair formation were found on human chromosome 11.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.