8 citations
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July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
8 citations
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January 2009 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” A specific thyroid hormone resistance mutation may be linked to different types of hair loss.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
4 citations
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January 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A faulty KLHL24 gene leads to hair loss by damaging hair follicle stem cells.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
26 citations
,
December 2003 in “Experimental Dermatology” Specific keratin gene mutations can cause monilethrix.
50 citations
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September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
2 citations
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September 2017 in “Journal of Investigative Dermatology” Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.
March 2021 in “Research Square (Research Square)” Patients with RASopathies have a higher risk of autoimmune disorders and should be routinely screened.
38 citations
,
September 1997 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
1 citations
,
September 2019 in “Steroids” Two new mutations in the AR gene linked to severe androgen insensitivity were found.
2 citations
,
March 2022 in “Portuguese Journal of Nephrology & Hypertension” A rare EGFR mutation in newborns leads to severe health issues and early death.
January 2025 in “Clinical Cosmetic and Investigational Dermatology” Genetic testing is crucial for diagnosing rare hair loss disorders.
46 citations
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September 2007 in “Journal of Investigative Dermatology”
January 2026 in “MDPI (MDPI AG)” The hairy ear mutation in mice is linked to changes in gene expression affecting hair growth.
53 citations
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May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
36 citations
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October 2000 in “British Journal of Dermatology” A different gene near the hairless gene on chromosome 8p21 causes a rare hair loss condition in a German family.
1 citations
,
May 2022 in “International journal of molecular sciences” Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
2 citations
,
September 2016 in “Journal of Dermatological Science” Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.
6 citations
,
July 2017 in “Biochemical and Biophysical Research Communications” The Hairless gene is crucial for hair cell development, affecting whether skin cells become hair or skin and oil gland cells.
The naked mutation in mice causes hair loss and helps identify keratin genes.
22 citations
,
March 1994 in “Journal of Heredity” A mutation in mice causes hair loss and immune problems.
19 citations
,
April 2024 in “Nature Cell Biology” 15 citations
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January 1991 in “Mammalian Genome” January 2005 in “Enlighten: Publications (The University of Glasgow)” Melanocyte pathology requires keratinocyte hyperplasia and regulation dysfunction.
July 2025 in “Frontiers in Medicine” Mutations in the LIPH gene cause woolly hair in a child.
2 citations
,
June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.
24 citations
,
May 2019 in “PLOS genetics” Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.