10 citations
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January 2014 in “Journal of Pediatric Endocrinology and Metabolism” Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
October 2020 in “The American Journal of Gastroenterology” Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
216 citations
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June 2015 in “PLANT PHYSIOLOGY” OsPHR3 can help breed rice that efficiently uses phosphate without growth issues.
1 citations
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January 2025 in “Frontiers in Oncology” REV7 is crucial for genome stability and cancer treatment, making it a potential target for therapy.
132 citations
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February 2002 in “Journal of Biological Chemistry” HOXC13 is crucial for regulating hair keratin genes in hair follicles.
22 citations
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April 2010 in “Journal of Cellular Biochemistry” Certain mutations in the hairless protein disrupt its ability to regulate the hair cycle.
5 citations
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March 2019 in “Experimental dermatology” Activating TLR3 may help produce retinoic acid, important for tissue regeneration.
18 citations
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January 2015 in “Experimental Dermatology” New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
September 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” A new staining method shows a special area in the hair's skin layer with lots of proteoglycans.
50 citations
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September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
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.
13 citations
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November 2017 in “Journal of Cellular and Molecular Medicine” The workshop discussed the role of a protein called calreticulin in health and disease, its potential as a treatment target, and its possible use as a disease marker.
12 citations
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September 2014 in “Bone” A vitamin D receptor mutation causes rickets and affects immune responses.
20 citations
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December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
20 citations
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October 1995 in “Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression” hHb1, hHb3, and hHb6 mRNAs start expressing at the same time in hair follicles.
5 citations
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March 2011 in “Journal of proteomics” Histone H4, released by cells exposed to colchicine, can cause hair loss by inhibiting cell growth and enzyme activity.
23 citations
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July 2016 in “JAMA Ophthalmology” CDH3-related disease causes worsening eye and hair issues.
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.
11 citations
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July 2010 in “European Journal of Dermatology” The condition is linked to chromosome 12, but no mutations were found in the known genes.
December 2022 in “Frontiers in plant science” CCDC22 and CCDC93 are essential for root and root hair growth in Arabidopsis.
1 citations
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December 2023 in “Curēus” Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
7 citations
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January 2021 in “Frontiers in genetics” Inherited color dilution in rabbits is linked to DNA methylation changes.
April 2019 in “Journal of Investigative Dermatology” Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.
2 citations
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September 2022 The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
June 2025 in “Albus Scientia” MC1R gene variations affect skin, hair color, UV sensitivity, and melanoma risk.
62 citations
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January 2009 in “Biochemistry” Vitamin D receptor binds similarly to natural and synthetic ligands, affecting gene regulation.
55 citations
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November 2010 in “Journal of Allergy and Clinical Immunology” The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.
1 citations
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May 2019 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Intravenous calcium therapy is a safe and effective treatment for a rare type of rickets.
RXR and RAR proteins in skin may help with cell growth, hair growth, and gland function.
4 citations
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June 2020 in “DOAJ (DOAJ: Directory of Open Access Journals)” A woman with Rhupus and Rowell syndrome was treated successfully with medication adjustments.