5 citations
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January 2016 in “Dermatology” No significant link between CAG repeat numbers and female pattern hair loss in Han Chinese population.
153 citations
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June 2015 in “GenomeBiology.com” The environment around the time of conception can change the VTRNA2-1 gene in a way that lasts for years and may affect disease risk.
32 citations
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February 2008 in “Journal of the American Academy of Dermatology” KFSD is a genetic disorder causing hair loss and skin issues, with no effective treatment.
Researchers made a mouse model with curly hair and hair loss by editing a gene.
Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.
4 citations
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December 2020 in “Mammalian genome” Harlequin mutant mice have hair loss due to low AIF protein levels and retroviral element activity.
March 2024 in “International journal of molecular sciences” Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
2 citations
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April 2018 in “Journal of Investigative Dermatology” Frontal fibrosing alopecia shows increased inflammation and JAK-STAT pathway activity without reduced hair proteins.
7 citations
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January 2020 in “Journal of Dermatology” Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.
14 citations
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May 2016 in “International Journal of Molecular Sciences” PP2Acα is essential for proper hair and skin development.
9 citations
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May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
11 citations
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March 2021 in “Molecular Carcinogenesis” Twist1 is crucial for UVB-induced skin cancer development.
Understanding genetics is crucial for treating heart and skin diseases.
36 citations
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September 2015 in “Forensic Science International: Genetics” Certain DNA variants can predict straight hair in Europeans but are not highly specific.
May 2014 in “JAMA Dermatology” Mother and son diagnosed with a rare genetic hair loss condition with no effective treatment.
August 2024 in “JAAD Case Reports” Upadacitinib successfully regrew hair in a child with alopecia universalis and specific genetic mutations.
39 citations
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March 2008 in “Journal of biological chemistry/The Journal of biological chemistry” GLI2 increases follistatin production in human skin cells.
January 2005 in “Experimental Dermatology” Genetic factors play a major role in acne.
8 citations
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December 2019 in “Molecular genetics and metabolism reports” Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
March 2009 in “Encyclopedia of Life Sciences” Mutations in keratin genes cause skin disorders, but new treatments show promise.
14 citations
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April 2008 in “PROTEOMICS” Increased 14-3-3 proteins may block hair cycle regression, causing hair loss.
153 citations
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April 1998 in “Current Biology” The risk of skin tumors becoming malignant depends on the specific skin cell type affected.
September 2022 in “JAAD case reports” The man has a genetic skin condition called pachyonychia congenita.
27 citations
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January 2000 in “Developmental Dynamics” Mutations in the Whn gene affect hair keratin gene expression differently.
August 2024 in “OSMANGAZİ JOURNAL OF MEDICINE” The visfatin GT genotype may increase the risk of Alopecia Areata.
22 citations
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March 2019 in “The Journal of Cell Biology” The Wave complex controls skin growth by suppressing certain signals.
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.
88 citations
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June 2000 in “Journal of Investigative Dermatology” Keratin 17 is important for hair and nail structure and affects pachyonychia congenita symptoms.
12 citations
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July 2016 in “British journal of dermatology/British journal of dermatology, Supplement” Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.
January 2026 in “Biomolecules” TSC22D genes are key in metabolic diseases and cancer, offering potential as treatment targets.