May 2023 in “Pharmaceuticals” Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
15 citations
,
January 1991 in “Mammalian Genome”
137 citations
,
September 2005 in “Proceedings of the National Academy of Sciences of the United States of America” The HR protein helps hair grow by blocking a hair growth inhibitor, aiding in hair follicle regeneration.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
30 citations
,
January 2009 in “Nuclear Receptor Signaling” Hairless protein is crucial for healthy skin and hair, and its malfunction can cause hair loss.
3 citations
,
January 1992 in “Clinical Pediatric Endocrinology” Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
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.
10 citations
,
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.
25 citations
,
August 2014 in “Endocrinology” Researchers created a mouse model of a type of rickets that does not cause hair loss.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
January 2026 in “MDPI (MDPI AG)” The hairy ear mutation in mice is linked to changes in gene expression affecting hair growth.
54 citations
,
December 2011 in “American Journal Of Pathology” A Gsdma3 mutation causes hair loss due to stem cell damage from skin inflammation.
September 2022 in “Research Square (Research Square)” 5% topical minoxidil improves hair density and quality in monilethrix patients.
24 citations
,
July 1994 in “Molecular Endocrinology” Researchers found an RNA transcript that might help control a growth factor linked to tumor development.
December 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” Hedgehog signaling controls hair follicle development and can affect skin cancer growth.
December 2023 in “JCEM case reports” A new gene variant causes glucocorticoid resistance in a mother and son.
11 citations
,
October 2023 in “mSphere” PrrH sRNA controls pyochelin production in *Pseudomonas aeruginosa*.
2 citations
,
September 2020 in “International Journal of Molecular Sciences” Removing certain hair follicle stem cells worsens skin reactions to allergens.
48 citations
,
January 2011 in “Hormone Research in Paediatrics” The conclusion is that genetic changes in the glucocorticoid receptor can lead to conditions affecting stress response, immunity, and metabolism, requiring personalized treatment.
55 citations
,
April 2008 in “Clinical Genetics” A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
1 citations
,
September 2011 in “Journal of Dermatology” A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
8 citations
,
December 2003 in “Experimental Dermatology” Altering the keratin 17 gene in mice hair follicles caused temporary hair issues, but changes were minimal and short-lived.
303 citations
,
October 2000 in “Nature” RXRα is crucial for hair growth and skin cell function.
2 citations
,
November 2004 in “Blood” RXRa is crucial for Th2 immune cell development and may link nutrition to immune health.
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the KRT82 gene is significantly associated with Alopecia Areata.
December 2016 in “Springer eBooks” Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.
19 citations
,
May 2004 in “The American Journal of Dermatopathology” The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
40 citations
,
September 2004 in “Biomacromolecules” The Glu413Lys mutation in keratin affects hair stability, while Glu413Asp does not.
4 citations
,
May 2020 in “Cureus” A new genetic mutation causing Werner's syndrome was found in an Indian man.
Defective protein folding due to a mutation is key in ANE syndrome.