7 citations
,
June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
64 citations
,
March 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” GPRC5D is linked to the formation of hair, nails, and certain tongue areas.
51 citations
,
December 2006 in “Mammalian Genome”
May 2024 in “Animal genetics” A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” A unique gene mutation was found in a family with monilethrix.
11 citations
,
October 2023 in “mSphere” PrrH sRNA controls pyochelin production in *Pseudomonas aeruginosa*.
4 citations
,
January 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” PrrH sRNA controls pyochelin gene expression in Pseudomonas aeruginosa based on heme levels.
3 citations
,
February 2022 in “Frontiers in cell and developmental biology” A specific RNA molecule, circCOL1A1, affects the growth and quality of goat hair by interacting with miR-149-5p and influencing cell growth pathways.
14 citations
,
March 2022 in “Plant Cell & Environment” The protein AtRXR3 limits root hair growth in Arabidopsis, affecting phosphorus uptake.
10 citations
,
September 2019 in “Experimental Eye Research” The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
6 citations
,
June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
15 citations
,
December 2014 in “PLoS ONE” A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
3 citations
,
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.
1 citations
,
January 2020 in “Research Square (Research Square)” Inherited color dilution in Rex rabbits is linked to DNA methylation changes in hair follicles.
79 citations
,
March 2005 in “Journal of Medical Genetics” A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
17 citations
,
August 2018 in “BMC Genomics” The HOXC13 gene affects different hair proteins in cashmere goats in varied ways and is controlled by a feedback loop and other factors.
37 citations
,
January 1993 in “Journal of Investigative Dermatology” 37 citations
,
August 2011 in “Journal of Bone and Mineral Research” A girl had rickets due to a gene mutation affecting vitamin D response.
126 citations
,
October 1998 in “Experimental Dermatology” The hr gene is crucial for skin and hair health, with mutations causing hair disorders.
6 citations
,
November 2017 in “Scientific reports” The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.
3 citations
,
February 2011 in “Journal of Biomedical Research/Journal of biomedical research” A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
October 2020 in “The American Journal of Gastroenterology” Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
2 citations
,
July 2021 in “Biochemical and Biophysical Research Communications” CTHRC1 helps hair grow back, and plantar dermis mixture boosts it.
15 citations
,
June 2012 in “British Journal of Dermatology” A new mutation in the KRT86 gene causes a hair disorder with variable expression.
9 citations
,
January 2018 in “Acta dermato-venereologica” A substance called poly(I:C) increases a protein called carbonic anhydrase II in skin cells, which might help with skin defense and healing.
January 2026 in “Journal of Dermatological Science” DcR3 helps heal wounds and regrow hair by changing macrophages to a repair-focused type.
76 citations
,
September 1992 in “Endocrinology” The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.
3 citations
,
February 2018 in “Experimental and Molecular Medicine/Experimental and molecular medicine” A protein called PCBP2 controls the production of a hair growth protein by interacting with its genetic message and is linked to hair loss when this control is disrupted.
178 citations
,
October 2001 in “Genes & Development” The mutated hairless gene causes hair loss by acting as a new type of corepressor affecting thyroid hormone receptors.