September 2019 in “Journal of Investigative Dermatology” Scientists used stem cells to create a model of the skin disease Epidermolysis Bullosa simplex, which helped them understand its molecular mechanisms and could aid in finding treatments.
February 2020 in “Definitions” KRT72 gene helps form hair.
2 citations
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January 2019 in “Annals of Dermatology” Certain gene variations in EGF and EGFR may increase the risk of alopecia areata in Koreans.
1 citations
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June 2019 in “Current developments in nutrition” A patient with Ehlers-Danlos Syndrome improved after treatment for fat malabsorption and essential fatty acid deficiency.
5 citations
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April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The gene therapy showed significant wound healing and was safe for treating severe RDEB.
52 citations
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May 2006 in “Journal of Structural Biology” Keratin-associated proteins help link filaments and affect keratin's strength.
24 citations
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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.
34 citations
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November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
15 citations
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August 1991 in “Histochemistry and Cell Biology” Enhancing Factor is found in growing tissues like young mouse intestines and skin but not in adults.
November 2022 in “Journal of Investigative Dermatology” ILC1-like cells can cause alopecia areata by themselves.
18 citations
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August 2015 in “Biochemical and Biophysical Research Communications” XEDAR triggers a specific signaling pathway in cells.
98 citations
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June 2008 in “Human mutation” A genetic change in the EDAR gene causes the unique hair traits found in East Asians.
41 citations
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January 2015 in “Development” Atoh1 expression can create new Merkel cells in the skin.
July 2024 in “Journal of Investigative Dermatology” ATR04-484 ointment shows promise for treating skin issues from cancer therapies.
August 2009 in “Australian Prescriber” Eculizumab helps reduce blood transfusions and stabilize hemoglobin but increases infection risk and is expensive.
May 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” EAAT4 decreases with age, harming skin function and calcium balance.
86 citations
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May 2002 in “Journal of Investigative Dermatology” A new keratin, hK6irs1, is found in all layers of the hair follicle's inner root sheath.
41 citations
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February 2005 in “Experimental Cell Research” MAEG helps in mouse hair follicle development by aiding cell adhesion.
17 citations
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August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
Epimorphin helps shape and develop epithelial cells, like those in hair follicles.
19 citations
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April 1999 in “British Journal of Dermatology” Keratin 2e shows a unique pattern in developing fetal skin, different from other keratins.
18 citations
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September 2003 in “International Journal of Cancer” EBV infection increases a specific keratin variant in carcinoma cells, possibly affecting cell structure and cancer progression.
67 citations
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January 1992 in “Journal of Investigative Dermatology” 43 citations
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April 1996 in “Journal of Investigative Dermatology” 4 citations
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August 2013 in “Chinese Medical Journal” A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
June 2025 in “Preprints.org” EDA is vital for bone and cartilage formation and could help treat skeletal disorders.
3 citations
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January 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin cells from people with Epidermolysis Bullosa Simplex have abnormally placed and less active mitochondria.
67 citations
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December 1990 in “The journal of cell biology/The Journal of cell biology” Researchers found genes for cysteine-rich proteins that form the protective layer of hair in humans and sheep.
January 1997 in “Purdue e-Pubs (Purdue University)” Whole hair strands can reliably measure gamma ray exposure using ESR techniques, but samples should be analyzed quickly or stored in liquid nitrogen.
January 2025 in “JCEM Case Reports” Enzyme replacement therapy may help alleviate symptoms in complex cases like this.