Not having the gene PLAAT3 leads to fat loss, high insulin resistance, and abnormal fat levels in the blood due to a disruption in fat cell development and function.
102 citations
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August 2008 in “Genes & Development” Laminin-511 is crucial for early hair growth and maintaining important hair development signals.
21 citations
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March 2003 in “Clinical and Experimental Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
8 citations
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December 2009 in “Journal of The European Academy of Dermatology and Venereology” Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
78 citations
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October 2007 in “Journal of Investigative Dermatology” Delta1 is crucial for controlling skin cell growth and preventing tumors in mice.
December 2023 in “The Sri Lanka Journal of Dermatology” A 12-year-old girl's hair loss was linked to a rare genetic condition called ALX4-related frontonasal dysplasia.
21 citations
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April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
6 citations
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June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
83 citations
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October 1998 in “The American Journal of Human Genetics” A specific gene mutation causes complete hair loss in an Irish Traveller family.
March 2011 in “Open Archive (Karolinska Institutet)” The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
January 2006 in “Advances in developmental biology” The Hairless gene is crucial for healthy skin and hair growth.
1 citations
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October 2024 in “Medicina” CLEC4D gene variants may increase the risk of alopecia areata in Jordanians.
Blocking 11β-HSD1 reduces stress hormone damage in hair growth cells.
7 citations
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January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
January 2001 in “Biomedical Research” THH and PAD type III appear together early in hair growth, but deiminated THH appears later, suggesting another factor is involved.
February 2023 in “Journal of dermatology” The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
20 citations
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August 2005 in “Journal of Cutaneous Pathology” The protein ARA70/ELE1 is involved in male pattern baldness, and lower levels of its short form may lead to hair thinning.
18 citations
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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.
2 citations
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August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
5 citations
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January 2017 in “Arquivos Brasileiros de Oftalmologia” A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
September 2024 in “Journal of the American Academy of Dermatology” AH-001 could be a safer and more effective treatment for hair loss.
October 2025 in “Nature Reviews Disease Primers” October 2025 in “Nature Reviews Disease Primers” 1 citations
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July 2007 in “Journal of Investigative Dermatology” The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” A unique gene mutation was found in a family with monilethrix.
23 citations
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July 2016 in “JAMA Ophthalmology” CDH3-related disease causes worsening eye and hair issues.
26 citations
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October 1998 in “Experimental Dermatology” A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
November 2025 in “The Journal of Immunology” BTNL2 helps protect hair follicles from immune attacks, which could aid in treating alopecia areata.