August 2025 in “Biomedicines” Half-siblings with a rare skin condition improved with treatment for a fungal infection, but hair loss remained.
January 2025 in “EXPERIMENTAL ANIMALS” Gamma-ray exposure improves genome editing efficiency in mice using the i-GONAD method.
43 citations
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September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
June 2005 in “Journal of Investigative Dermatology” A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
September 2019 in “Journal of Investigative Dermatology” Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
1 citations
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September 2017 in “Zhonghua neifenmi daixie zazhi” Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.
April 2026 in “Development” Hemidesmosomes and Notch signaling help skin cells mature by moving them to the outer layer.
6 citations
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February 2020 in “Journal of Cutaneous Pathology” Nevus psiloliparus lacks mature hair follicles but keeps other skin structures intact.
1 citations
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November 2021 in “Biomedicines” Understanding how acne develops in different diseases could lead to new treatments.
April 2026 in “Human Genome Variation” The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
556 citations
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September 2008 in “Genes & Development” Wnt signaling is vital for cell growth, development, and cancer research.
November 2025 in “Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin” Sporadic trichoblastic neoplasms generally don't recur or spread, with one case showing a specific genetic fusion.
33 citations
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September 2017 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes woolly hair and hair loss.
MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.
August 2018 in “Pediatric Dermatology” A baby had a unique skin condition with a pale patch and surrounding dark hairs, not linked to other health issues.
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
4 citations
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January 2023 in “Journal of Clinical Investigation” Specific mutations in a receptor cause facial abnormalities and hair loss.
24 citations
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October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
152 citations
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April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
85 citations
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August 2015 in “Journal of Applied Genetics” Mutations in specific genes disrupt development of sweat glands, teeth, hair, skin, and nails in HED.
85 citations
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March 2008 in “Journal of Cell Science” The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
52 citations
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October 2012 in “Journal of Dermatological Science” The document concludes that mouse models are crucial for studying hair biology and that all mutant mice may have hair growth abnormalities that require detailed analysis to identify.
36 citations
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October 1996 in “Dermatologic Clinics” Mice are useful for researching human hair loss and testing treatments, despite some differences between species.
29 citations
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January 2010 in “Methods in Enzymology” The document concludes that careful design of genetic fate mapping experiments is crucial for accurate cell lineage tracing in mice.
25 citations
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January 2000 in “Hormone Research in Paediatrics” Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.
18 citations
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January 2015 in “Experimental Dermatology” New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
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.
3 citations
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October 2011 in “JAT. Journal of applied toxicology/Journal of applied toxicology” Doxazosin mesylate and saw palmetto cause genetic changes in fruit flies.