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.
February 2024 in “Skin research and technology” The research suggests that immune cells and a specific type of cell death called ferroptosis are involved in Frontal fibrosis alopecia.
109 citations
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September 2011 in “Human molecular genetics online/Human molecular genetics” New treatments targeting specific genes show promise for treating keratin disorders.
4 citations
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January 2018 in “International Journal of Trichology” A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
5 citations
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September 2013 15 citations
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June 2011 in “Journal of Investigative Dermatology” Overexpressing 14-3-3σ in mice skin reduces cell growth and hair density.
11 citations
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December 2014 in “The American journal of pathology” A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” Robertsonian translocation can cause recurrent miscarriages.
33 citations
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December 1982 in “Developmental Medicine & Child Neurology” Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.
16 citations
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March 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The Notch signaling pathway helps in mouse hair development through a noncanonical mechanism that does not rely on RBPj or transcription.
12 citations
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June 2020 in “Frontiers in Cell and Developmental Biology” The PP2A-B55α protein is essential for brain and skin development in embryos.
September 2017 in “Journal of Investigative Dermatology” Loss of COL17A1 causes hair follicle stem cells to age and leads to hair loss.
2 citations
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January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
29 citations
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January 2003 in “Genomics” A new mouse mutation causes skin and hair issues, influenced by another gene.
September 2025 in “Digital Commons - RU (Rockefeller University)” Nfib in hair follicle stem cells boosts melanocyte stem cell growth and differentiation.
2 citations
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July 1994 in “Journal of Dermatological Science” Grafted human scalp samples on mice can produce human hair, useful for studying hair genetics.
January 2022 in “SSRN Electronic Journal” LncRNA RP11-818024.3 helps hair growth and recovery in hair loss by boosting cell survival and reducing cell death.
14 citations
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December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
40 citations
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November 1966 in “Archives of Dermatology” Trichorrhexis nodosa is mainly caused by hair trauma and improves with gentler hair care.
37 citations
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July 1999 in “The EMBO Journal” Overexpression of certain genes can shorten hair by disrupting the hair-growth cycle.
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.
101 citations
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September 2006 in “Journal of Biological Chemistry” Human mitochondrial DNA polymerase makes very few errors, crucial for preventing degenerative diseases.
July 2022 in “Journal of Investigative Dermatology” A specific mutation in Kras causes abnormal tissue changes by making a cell signal continuously active, which disrupts normal cell coordination.
1 citations
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September 2012 in “Journal of Investigative Dermatology” Aging reduces stem cell activation, leading to hair loss in mice lacking a specific enzyme.
5 citations
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September 2015 in “BMC Medical Genetics” The EDAR gene mutation leads to thinner and more deformed hair shafts.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
21 citations
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July 2018 in “International Journal of Molecular Sciences” Foxn1 is crucial for skin development and healing, and altering its expression may aid regenerative medicine.
11 citations
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November 2014 in “Behavior Genetics” 3 citations
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March 2009 in “Hirosaki University Repository for Academic Resources (Hirosaki University)” Hirosaki hairless rats have sparse, twisted hair due to missing hair keratin genes.
14 citations
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October 2018 in “PloS one” Deleting the Far2 gene in mice causes sebaceous gland issues and patchy hair loss.