November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
3 citations
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April 2012 in “Bioinformation” Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
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.
6 citations
,
March 2007 in “BioTechniques” PCR genotyping in cre-loxP mice can be inaccurate due to unintended gene deletions in non-target tissues.
303 citations
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October 2000 in “Nature” RXRα is crucial for hair growth and skin cell function.
1 citations
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November 2023 in “Rice” PRX102 is essential for rice root hair growth by helping transport substances to the tips.
1 citations
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January 1971 in “Acta dermato-venereologica” Mice hair follicles take in the amino acid cystine.
April 2026 in “Human Genome Variation” The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
17 citations
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June 2003 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Mutations in hKAP1 genes may cause hereditary hair disorders.
October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
2 citations
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October 2023 in “PubMed” Scientists created a cell model to study and find treatments for a skin disease called RDEB.
2 citations
,
January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
13 citations
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November 2012 in “PLoS ONE” A gene mutation in mice causes severe skin disorder similar to a human condition.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
PIKFyve is essential for normal platelet function and its deficiency causes organ issues and macrophage infiltration.
15 citations
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May 2014 in “Journal of Biological Chemistry” A chimeric keratin partially improved skin structure in mice lacking keratin 5, but didn't fully restore normal skin.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
31 citations
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August 2005 in “The American Journal of Dermatopathology” The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.
23 citations
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January 1985 in “Journal of Neuropathology & Experimental Neurology” Cupric chloride treatment corrected abnormal Purkinje cell development in brindled mice.
57 citations
,
August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
124 citations
,
July 2012 in “Archives of Dermatological Research” Targeting androgen receptors could be a promising way to treat skin disorders with fewer side effects.
80 citations
,
September 1984 in “Journal of The American Academy of Dermatology” 5% minoxidil helps hair regrowth in androgenic alopecia.
47 citations
,
January 2017 in “RSC Advances” Keratin peptides can change hair shape gently without harsh chemicals.
42 citations
,
January 2006 in “Obstetrical & Gynecological Survey” The document concludes that correct diagnosis and management of PCOS are important, and more research is needed on its risks and treatments.
37 citations
,
October 2014 in “Maturitas” Men's hair loss is caused by hormones and genes, and can be treated with medication and surgery, while graying is due to aging and has no prevention except dyeing.
32 citations
,
September 2015 in “Dermatology” Certain leukemia drugs can cause severe skin reactions that may require stopping treatment.
31 citations
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December 2010 in “Journal of the American Academy of Dermatology” Loose anagen hair syndrome is caused by structural abnormalities in the hair follicle's inner root sheath.
29 citations
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June 2014 in “Drug delivery” The new formulation improved the skin absorption of the drug Thiocolchicoside.
25 citations
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June 2011 in “International journal of pharmaceutics” Nanoparticles effectively deliver water-insoluble drugs to hair follicles, stimulating hair growth without irritating the skin.