Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
4 citations
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July 2024 in “Animals” The KRTAP19-5 gene affects wool curvature in Chinese Tan sheep, with Variant B reducing curvature.
1 citations
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June 2022 in “Experimental dermatology” The SHJH hr mice with a mutated Hr gene show signs of faster skin aging due to poor antioxidative protection.
November 2012 in “Experimental and Clinical Endocrinology & Diabetes” A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
7 citations
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December 2015 in “International Journal of Dermatology” New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
Key genes for mink fur have been identified, aiding conservation efforts.
2 citations
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May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.
65 citations
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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.
January 2025 in “Nature Communications” CPK1 helps root hair growth in Arabidopsis by activating channels for calcium signaling.
57 citations
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July 2000 in “Toxicology Letters” K6/ODC transgenic mice are effective for quickly identifying cancer-causing chemicals.
1 citations
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January 2017 in “International Journal of Trichology” A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
10 citations
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September 2015 in “PLoS ONE” New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
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.
July 2010 in “Journal of Investigative Dermatology” Scientists found gene mutations that affect hair loss, skin stem cells, and skin disorders, and identified drugs that may help treat blood vessel and skin conditions.
53 citations
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May 1988 in “Journal of Molecular Evolution” 139 citations
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September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
2 citations
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November 2022 in “Skin research and technology” 5% topical minoxidil improves hair density and quality in monilethrix patients.
14 citations
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February 1991 in “FEBS Letters” Introducing the rat OTC gene partially corrected OTC deficiency in mice.
1 citations
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February 2012 in “InTech eBooks” CK7 and CK20 help identify and classify tumors for accurate cancer diagnosis.
3 citations
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March 2010 in “Dermatologica Sinica” A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
6 citations
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March 2007 in “BioTechniques” PCR genotyping in cre-loxP mice can be inaccurate due to unintended gene deletions in non-target tissues.
10 citations
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September 2021 in “The FASEB Journal” ACKR2 helps prevent skin scarring and hair loss by controlling inflammation.
11 citations
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October 2002 in “Genetics” A new mouse hair mutation, called hague, is semidominant and unstable, but the exact cause is unknown.
238 citations
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May 1989 in “Journal of Investigative Dermatology” 10 citations
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January 2003 in “Dermatology” The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
43 citations
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April 1996 in “Journal of Investigative Dermatology” 119 citations
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September 2000 in “Journal of Biological Chemistry” GKLF/KLF4 and Sp1 control Keratin 19 gene activity, influencing cancer-related changes.
August 2013 in “Nature Reviews Drug Discovery” New cancer treatments show promise in reducing tumor growth and improving skin regeneration in mice.
22 citations
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December 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” A mouse gene mutation increases the risk of skin cancer.