5 citations
,
September 2015 in “BMC Medical Genetics” The EDAR gene mutation leads to thinner and more deformed hair shafts.
27 citations
,
November 2007 in “Genomics” Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
223 citations
,
January 2014 in “International Journal of Molecular Sciences” The conclusion is that proper signaling is crucial for hair growth and development, and errors can lead to cancer or hair loss.
81 citations
,
March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause specific hair and scalp issues.
75 citations
,
September 2007 in “Journal of Heredity” FGF5 gene mutations cause long hair in domestic cats.
74 citations
,
January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
41 citations
,
November 2011 in “The Journal of Dermatology” Some hair loss disorders are caused by genetic mutations affecting hair growth.
35 citations
,
August 2009 in “Differentiation” Desmoglein 4 is controlled by specific proteins that affect hair growth.
26 citations
,
December 2003 in “Experimental Dermatology” Specific keratin gene mutations can cause monilethrix.
11 citations
,
March 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A gene mutation causes early keratinocyte maturation leading to hair loss in Olmsted syndrome.
8 citations
,
July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
6 citations
,
March 2017 in “Journal of the European Academy of Dermatology and Venereology” Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
September 2023 in “Cutis” A baby girl has a hair disorder called monilethrix, causing fragile hair that may improve over time.
854 citations
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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.
139 citations
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September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
107 citations
,
March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
93 citations
,
July 2006 in “Journal of Investigative Dermatology” K25, K27, and K28 are found in all inner root sheath layers of hair, while K26 is only in the cuticle.
76 citations
,
December 2011 in “Journal of Cell Science” Different keratin types have unique amino acid patterns that are evolutionarily conserved.
66 citations
,
October 2002 in “Human molecular genetics online/Human molecular genetics” A gene mutation in mice causes skin defects and early death.
55 citations
,
November 2018 in “American journal of human genetics” Mutations in the LSS gene cause a rare type of hereditary hair loss.
44 citations
,
March 2012 in “Molecular Carcinogenesis” Keratin 15 cells from hair follicles help develop and maintain skin tumors in mice.
39 citations
,
December 2012 in “The American Journal of Human Genetics” Mutations in the SNRPE gene cause hereditary hair loss.
33 citations
,
June 2016 in “Pediatric Dermatology” Some congenital hair disorders improve in childhood or with treatments like minoxidil and retinoids, while others like Netherton syndrome and trichothiodystrophy have a poor prognosis.
30 citations
,
October 2010 in “Biochemical and biophysical research communications” The Gsdma3 gene is essential for normal hair development in mice.
28 citations
,
February 2010 in “British journal of dermatology/British journal of dermatology, Supplement” WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
25 citations
,
March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene mutation causes varying hair loss severity in a Pakistani family.
24 citations
,
November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
24 citations
,
January 2018 in “Development” Frizzled 3 and Frizzled 6 together control the orientation of mouse hair follicles.
22 citations
,
October 1996 in “Dermatologic clinics” Understanding intermediate filaments helps explain hair health and related diseases.
18 citations
,
November 2009 in “Calcified tissue international” A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.