29 citations
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August 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes cause the rare hair disorder monilethrix.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
32 citations
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February 2008 in “Developmental dynamics” Mice without the Sp6 gene have problems developing several body parts, including hair, teeth, limbs, and lungs.
March 2024 in “Research Square (Research Square)” Sex steroids affect the MafB gene differently in male and female hamsters.
22 citations
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July 2016 in “Cellular and Molecular Life Sciences” Genetic changes in mice help understand skin and hair disorders, aiding treatment development for acne and hair loss.
1 citations
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February 2025 in “International Journal of Molecular Sciences” HMBi supplementation boosts cashmere growth by affecting specific metabolic and signaling pathways in goats.
7 citations
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February 2011 in “Journal of dermatology” The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
8 citations
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June 2001 in “Journal of Biological Chemistry” A truncated protein linked to breast cancer may change cell adhesion.
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
The document concludes that the development of certain tumors is influenced by genetic background and that a specific gene modification can lead to tumor regression and reduced growth.
4 citations
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October 2003 in “Annales de Génétique” A specific gene mutation causes different hair defects in Indian monilethrix families.
12 citations
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August 1984 in “Genetics Research” The N gene affects the protein makeup of mouse hair.
10 citations
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March 2014 in “Scandinavian journal of clinical and laboratory investigation” Malondialdehyde-modified DNA may trigger an immune response in alopecia areata patients.
79 citations
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March 2005 in “Journal of Medical Genetics” A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
21 citations
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January 2023 in “International Journal of Molecular Sciences” S100A6 protein is linked to disease progression, especially in cancers.
January 2026 in “MDPI (MDPI AG)” The hairy ear mutation in mice is linked to changes in gene expression affecting hair growth.
Defective protein folding due to a mutation is key in ANE syndrome.
26 citations
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December 2019 in “Stem Cell Reports” Proper tissue repair in adult skin requires specific histone hypomethylation.
September 2022 in “Research Square (Research Square)” 5% topical minoxidil improves hair density and quality in monilethrix patients.
MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.
January 2018 in “Stem cell biology and regenerative medicine” ATP-dependent chromatin remodeling is crucial for skin development and stem cell function.
February 2026 in “Toxicology Letters” MK-0773 is a moderate inhibitor of the SRD5A2 enzyme.
32 citations
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November 1998 in “Journal of Biological Chemistry” Mouse and human keratin 16 can both form filaments, with differences likely due to the tail domain, not the helical domain.
November 2025 in “Journal of Investigative Dermatology” Alpha-MSH affects mitochondrial function, and MC1R mutations may increase skin aging.
54 citations
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February 2002 in “Carcinogenesis” Increasing SSAT makes skin more prone to cancer.
3 citations
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January 2011 in “生物医学研究杂志:英文版” A new mutation in the KRT86 gene causes monilethrix in a Han family.
25 citations
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January 2012 in “Proteome Science” Adipose stem cells show common protein changes as they grow, especially involving S100A6.
149 citations
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July 2000 in “Molecular and Cellular Biology” Keratin 6a is important for quick wound healing from hair follicles.
47 citations
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June 1994 in “Experimental Cell Research” mHa2 and mHa3 keratins have different structures and roles in mouse hair and tongue tissues.
2 citations
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January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.