3 citations
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March 2017 in “Pediatric Dermatology” FOXN1 duplication can cause excessive hair growth.
February 2026 in “Indian Journal of Dermatology” Upadacitinib may effectively treat twenty-nail dystrophy without causing pain.
2 citations
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June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.
47 citations
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September 2012 in “Human molecular genetics online/Human molecular genetics” Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
2 citations
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April 2010 in “The Open Dermatology Journal” Corneodesmosin is essential for skin and hair health, and its dysfunction can lead to skin and hair disorders.
January 2025 in “Dermatology Reports” Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
November 2018 in “Journal of dermatology & cosmetology” The document reports the first case of a rare skin condition in Colombia, the 19th case worldwide.
37 citations
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June 2000 in “Experimental dermatology” The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
February 2025 in “Journal of Investigative Dermatology” DMG-Na may help reduce hair loss and improve hair growth, but more research is needed.
December 2024 in “Turkish Journal of Forensic Medicine” Next-Generation Sequencing improves forensic analysis by providing detailed genetic information quickly.
87 citations
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March 2017 in “Journal of Clinical Investigation” PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
12 citations
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June 2022 in “FARMACIA” Transethosomal gels improve naftifine skin delivery better than Exoderil cream.
17 citations
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June 2017 in “Gene” A rare genetic mutation found in an Indian family can be detected through prenatal screening.
1 citations
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April 2007 in “The FASEB Journal” Lack of certain fatty acids causes skin, immune, and fertility issues in mice.
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May 2012 in “Indian drugs” Finasteride, a hair loss treatment, works better and is more stable when delivered through specially prepared gels, leading to increased hair growth.
4 citations
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December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
21 citations
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September 2003 in “Journal of Clinical Investigation” Overexpressing noggin in mice causes severe osteoporosis.
30 citations
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January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
17 citations
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June 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” The G60S Connexin43 mutation causes hair growth issues and poor hair quality in mice, similar to human ODDD patients.
43 citations
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September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
April 2023 in “Journal of Investigative Dermatology” Dkk4 protein helps control how hair grows and its arrangement.
1 citations
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May 2016 in “Pharmaceutical Biology” Aspergillus niger culture creates two finasteride derivatives with enzyme-inhibiting effects.
November 2010 in “International Journal of Developmental Neuroscience”
June 2010 in “Melanoma research” LDE225 is a promising skin-applied treatment for basal cell carcinoma with good skin penetration and effectiveness.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
July 2025 in “Cermin Dunia Kedokteran” Nasopharyngeal carcinoma is a common cancer in Indonesia, with risk factors including genetics, diet, and Epstein-Barr virus, and is treated with advanced radiotherapy.
August 2016 in “Journal of Investigative Dermatology” January 2023 in “Toxicological Research”