May 2025 in “Frontiers in Genetics” A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
August 2023 in “Frontiers in Endocrinology” Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
July 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” The Arabidopsis rhd2 mutant is more sensitive to drought because of changes in cell membrane proteins and cell structure.
October 2014 in “Dialnet (Universidad de la Rioja)” Snail2 is crucial for hair growth and affects skin cancer development.
89 citations
,
January 2020 in “PubMed” Early detection and biotin treatment improve outcomes for biotinidase deficiency.
71 citations
,
January 2011 in “Orphanet Journal of Rare Diseases” IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
18 citations
,
January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
16 citations
,
January 2010 in “Journal of Korean medical science/Journal of Korean Medical Science” A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
12 citations
,
September 2017 in “JDR Clinical & Translational Research” Early detection of specific VDR mutations is crucial for effective treatment and better dental outcomes in children with hereditary vitamin D–resistant rickets.
1 citations
,
January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
October 2025 in “Frontiers in Medicine” Zinc supplements improved symptoms in a Uyghur infant with a rare genetic disorder affecting zinc absorption.
18 citations
,
January 2020 in “Acta dermato-venereologica” Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
13 citations
,
March 2020 in “Genes” Disrupting the FGF5 gene in rabbits leads to longer hair by extending the hair growth phase.
1 citations
,
November 2005 in “Journal of Andrology” The meeting highlighted promising genetic treatments for male fertility issues but noted concerns about certain cancer risks and ICSI safety.
22 citations
,
September 2011 in “Journal of Investigative Dermatology” TCF/Lef1 is essential for skin barrier function by regulating lipid metabolism.
272 citations
,
September 2001 in “Journal of Biological Chemistry” Human hair keratins were cataloged, showing their roles in hair differentiation stages.
260 citations
,
January 2020 in “Nature” Stress can cause hair to turn gray by depleting stem cells.
182 citations
,
May 2003 in “Development” Myc activation reduces skin stem cells by affecting cell adhesion.
170 citations
,
January 2010 in “animal” Hair follicle growth and fiber production in animals are influenced by chemical signals, proteins, pigmentation, genetics, and nutrients.
152 citations
,
April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
134 citations
,
July 2020 in “Experimental dermatology” Hair follicles are normally protected from the immune system, but when this protection fails, it can cause hair loss in alopecia areata.
118 citations
,
October 2013 in “Trends in Genetics” The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
100 citations
,
November 2017 in “EMBO Reports” Metabolic signals and cell shape influence how cells develop and change.
99 citations
,
July 2012 in “PLoS Genetics” A mutation in the KRT75 gene causes frizzle feathers in chickens.
85 citations
,
January 2018 in “Cell stem cell” Different signals work together to change gene activity and guide hair follicle stem cells to become specific cell types.
75 citations
,
March 1998 in “Journal of Investigative Dermatology” The transgene likely activated an oncogene or interrupted a tumor suppressor gene, causing melanoma in mice.
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.
47 citations
,
June 2017 in “The FEBS journal” Disabling the FGF5 gene in sheep leads to longer wool.
45 citations
,
August 2018 in “Stem Cells International” Stem cells, especially from fat tissue and Wharton's jelly, can potentially regenerate hair follicles and treat hair loss, but more research is needed to perfect the treatment.
41 citations
,
December 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” Deleting MED1 in skin cells causes hair loss and skin changes.