139 citations
,
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.
July 2024 in “Journal Archives of Health” Woolly hair is a rare genetic condition with no effective treatments.
December 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” AP-2α and AP-2β proteins are essential for healthy adult skin and hair.
January 2026 in “PLoS Biology” ARHGEF3 is essential for proper hair follicle development in mice.
6 citations
,
January 2008 in “Indian Journal of Dermatology” Monilethrix, a genetic hair disorder causing fragile hair, affects three generations in a family.
4 citations
,
January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.
10 citations
,
November 2017 in “Journal of Investigative Dermatology” A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
5 citations
,
December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
43 citations
,
December 2013 in “Seminars in Cell & Developmental Biology” Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.
5 citations
,
August 2015 in “Bioscience, Biotechnology, and Biochemistry” Obese mice with a leptin gene mutation have a longer resting phase in their hair cycle, which may help understand certain hair loss conditions.
75 citations
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September 1985 in “Archives of dermatology” Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.
April 2016 in “Journal of Investigative Dermatology” Iron deficiency causes hair loss by affecting hair differentiation and cycling.
2 citations
,
April 2008 in “PubMed” A gene mutation causes monilethrix in a Chinese family.
37 citations
,
April 2015 in “Development Growth & Differentiation” The Hippo signaling pathway helps control organ size during regeneration by regulating gene expression.
175 citations
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September 1998 in “British Journal of Dermatology” Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
19 citations
,
July 2020 in “EBioMedicine” A gene variant increases the risk of a type of hair loss by affecting hair protein production.
1 citations
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October 2025 in “International Journal of Molecular Sciences” Mutating the gmds gene in zebrafish increases hair cell numbers and regeneration.
36 citations
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March 2014 in “Cell death and differentiation” Disrupting β-catenin signaling in certain cells causes anorectal malformations.
8 citations
,
January 2014 in “Indian Journal of Paediatric Dermatology” Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
Inhibiting AP-1 changes skin tumor types and affects tumor cell identity.
46 citations
,
December 1992 in “The Journal of Steroid Biochemistry and Molecular Biology” Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.
Mutations in the hairless protein gene cause hair loss.
Sox13 is a marker for early hair follicle development but not essential for skin and hair growth.
1 citations
,
April 2022 in “AACE clinical case reports” A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
1 citations
,
January 2024 in “Veterinary Dermatology” Alopecia X in Pomeranians is likely genetic, not environmental.
10 citations
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January 2003 in “Dermatology” The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
April 2016 in “Journal of Investigative Dermatology” Wnt ligands, produced by dermal papilla cells, are essential for adult hair growth and regeneration.
16 citations
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August 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” MED1 is essential for normal hair growth and maintaining hair follicle stem cells.