19 citations
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July 2020 in “EBioMedicine” A gene variant increases the risk of a type of hair loss by affecting hair protein production.
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
September 2025 in “Indian Journal of Dermatology” A Turkish woman has a hair condition caused by a LIPH gene mutation.
52 citations
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October 1995 in “Experimental Cell Research” Human hair keratin genes hHa2 and hHb1 are located on chromosomes 17 and 12.
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June 2014 in “Molecular biology reports” KAP9.2 and Hoxc13 genes are important for cashmere growth and vary in activity during different stages.
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January 1994 in “Current Opinion in Endocrinology & Diabetes” PTHrP regulates various normal body functions, including bone development, skin, and muscle function.
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April 1999 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” Vitamin D receptor is crucial for bone health and mineral metabolism.
Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.
61 citations
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February 1997 in “Differentiation” Hair differentiation starts earlier than thought, involving multiple type-II keratins.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” BBS7 is crucial for maintaining healthy periodontal ligaments by supporting Shh signaling.
3 citations
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January 2020 in “Indian Journal of Dermatology” Certain gene variations in the Vitamin D Receptor are linked to higher risk of female hair loss.
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May 2014 in “Clinical and Experimental Dermatology” Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
10 citations
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August 2023 in “The EMBO Journal” Kdm6b is crucial for skin cell differentiation.
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February 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” Two new proteins, hKAP1.6 and hKAP1.7, are found in the hair follicle cortex.
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January 2025 in “动物学研究” The gene GJA1 is important for regulating coarse hair density in goats.
11 citations
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February 2011 in “The Journal of Dermatology” Mutations in the hairless gene cause a rare form of permanent hair loss.
85 citations
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March 2008 in “Journal of Cell Science” The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
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March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
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October 1986 in “The Histochemical Journal” Vitamin D receptor actions without binding are crucial for healthy skin and hair.
May 2021 in “Journal of the Endocrine Society” A woman's hair loss and other symptoms were due to a rare hormone deficiency treatable with steroids.
13 citations
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December 2005 in “Traffic” Syntaxin 9 helps in transporting and signaling of the EGF receptor in skin and stomach cells.
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7 citations
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February 2012 in “Journal of cutaneous pathology” The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.
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.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Targeting impaired Nrf2 signaling might help treat hidradenitis suppurativa early on.
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June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
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November 2024 in “European Journal of Endocrinology” Higher childhood DHEAS levels are linked to advanced puberty and DNA changes.
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January 1997 in “Journal of Dermatological Science” A new protein linked to hair strength was identified, aiding in understanding brittle hair conditions.