854 citations
,
February 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” Understanding hair follicle development can help treat hair loss, skin regeneration, and certain skin cancers.
717 citations
,
June 2010 in “Nature” Alopecia areata involves both innate and adaptive immunity, with specific genes linked to the disease.
191 citations
,
December 2003 in “Journal of Investigative Dermatology” Male pattern baldness is largely genetic, linked to the androgen receptor gene, and may relate to certain health issues.
151 citations
,
June 2010 in “Endocrinology and metabolism clinics of North America” Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
148 citations
,
May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.
134 citations
,
February 2005 in “Neuropsychopharmacology” GABRA2 gene variations impact alcohol response, and hair loss medication finasteride reduces some effects.
95 citations
,
February 2019 in “The New England Journal of Medicine” Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
78 citations
,
November 2005 in “Endocrinology” Hairless protein can block vitamin D activation in skin cells.
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.
57 citations
,
February 2006 in “Journal of Investigative Dermatology” Cylindromas likely originate from hair follicle stem cells, not sweat glands.
50 citations
,
February 2013 in “BMC evolutionary biology” Cetaceans lost hair due to changes in the Hr and FGF5 genes.
49 citations
,
November 2021 in “Annual review of pathology” Lysophospholipids like LPA and S1P are important for hair growth, immune responses, and vascular development, and could be targeted for treating diseases.
26 citations
,
October 2002 in “Journal of Investigative Dermatology” A specific gene mutation causes congenital hair loss.
23 citations
,
January 2017 in “BMC Medical Genetics” A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
20 citations
,
May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
18 citations
,
January 2018 in “Advances in experimental medicine and biology” Hair keratins evolved from ancient proteins, diversifying through gene changes, crucial for forming claws and later hair in mammals.
14 citations
,
July 2019 in “Experimental and Molecular Medicine” Nanog gene boosts stem cells, helps hair growth, and may treat hair loss.
13 citations
,
June 2024 in “Frontiers in Genetics” About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
12 citations
,
June 2024 in “Nutrients” Natural antioxidants like flavonoids and resveratrol may help prevent low testosterone in aging men.
11 citations
,
September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
8 citations
,
January 2015 in “Genetics and Molecular Research” Certain gene variations increase the risk of alopecia areata in Koreans.
8 citations
,
January 2011 in “International journal of trichology” Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
7 citations
,
September 2013 in “Familial cancer” Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.
7 citations
,
January 2013 in “Indian dermatology online journal” A rare skin condition with dark, thick, warty patches and some hair loss was found in a newborn boy.
5 citations
,
December 2021 in “Journal of Investigative Dermatology” Hedgehog signaling in certain cells is crucial for hair growth during wound healing.
5 citations
,
February 2005 in “Journal of the American Academy of Dermatology” Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
4 citations
,
October 2023 in “Children” Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
4 citations
,
January 2018 in “International Journal of Trichology” A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
2 citations
,
January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
2 citations
,
August 2019 in “Journal of skin and stem cell” The study concludes that regulating apoptosis could lead to new treatments for various skin and hair conditions.