18 citations
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November 2009 in “Calcified tissue international” A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
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July 2018 in “International Journal of Cosmetic Science” Keratin-based particles safely improve hair strength, smoothness, and heat protection.
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November 2017 in “Scientific reports” The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.
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January 2015 in “Biochemical Society Transactions” The Ysc84/SH3yl1 protein family is important for cell movement and the process of taking in materials by interacting with actin and cell membranes.
5 citations
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September 2022 in “Molecular pharmacology” KATP channels are important for energy balance and are targeted by drugs for diabetes, hypoglycemia, hypertension, and hair loss.
April 2024 in “Journal of pharmacy & pharmacognosy research” A compound from Calophyllum inophyllum L. leaf may help treat non-small cell lung cancer.
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January 2023 in “International Journal of Biological Sciences” CTHRC1 is essential for healing and preventing heart rupture after a heart attack.
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October 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” Mouse profilaggrin helps in skin cell differentiation and may be involved in calcium signaling.
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July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
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December 2020 in “Scientific reports” Selective breeding caused the unique curly hair in Mangalitza pigs.
2 citations
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January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
January 2026 in “Therapeutics” SCUBE3 is a potential target for cancer and alopecia treatment but is challenging to target due to its varied roles.
March 2026 in “Zenodo (CERN European Organization for Nuclear Research)” March 2026 in “Zenodo (CERN European Organization for Nuclear Research)” 40 citations
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December 2010 in “Human Genetics” 77 citations
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March 2000 in “Journal of Investigative Dermatology” The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.
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July 2020 in “American journal of human genetics” Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
27 citations
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January 2000 in “Developmental Dynamics” Mutations in the Whn gene affect hair keratin gene expression differently.
22 citations
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October 1996 in “Dermatologic clinics” Understanding intermediate filaments helps explain hair health and related diseases.
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
June 2023 in “Journal of Biological Chemistry” Get3d protein helps maintain photosynthesis in plants and photosynthetic bacteria.
22 citations
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August 2020 in “Health and Quality of Life Outcomes” The DLQI is reliable but may not fully capture the impact of skin conditions on quality of life, especially in emotional and psychological areas.
215 citations
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September 2003 in “Journal of Biological Chemistry” Vitamin D receptor and hairless protein are essential for hair growth.
130 citations
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April 2001 in “Journal of Investigative Dermatology” The keratin tail is crucial for skin structure and function.
107 citations
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March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
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.
40 citations
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September 2004 in “Biomacromolecules” The Glu413Lys mutation in keratin affects hair stability, while Glu413Asp does not.
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.
24 citations
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January 2018 in “Development” Frizzled 3 and Frizzled 6 together control the orientation of mouse hair follicles.