1 citations
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April 2024 in “Animal Genetics” A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Lack of TG2 increases fat storage and lowers cell cleanup in skin oil cells.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
10 citations
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November 2017 in “Journal of Investigative Dermatology” A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
39 citations
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January 2015 in “Annals of dermatology/Annals of Dermatology” Three new types of a skin blistering disease were found, caused by specific gene mutations.
2 citations
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April 2019 in “Journal of Investigative Dermatology” Gasdermin A3 causes hair follicle stem cells to activate too early, leading to hair loss.
17 citations
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December 2006 in “Gene Expression Patterns” Scube3 gene affects mouse embryo growth in multiple areas, but needs more research.
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.
13 citations
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November 2012 in “PLoS ONE” A gene mutation in mice causes severe skin disorder similar to a human condition.
15 citations
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June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
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.
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.
April 2019 in “Journal of Investigative Dermatology” Researchers created a new mouse model for studying scleroderma.
November 2022 in “Journal of Investigative Dermatology” Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
January 2026 in “Animal Genetics” A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
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.
26 citations
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June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
June 2023 in “Journal of biological chemistry/The Journal of biological chemistry” Sdr16c5 and Sdr16c6 genes regulate a key point in lipid production that affects eye and skin gland function.
January 2018 in “VCU Scholars Compass (Virginia Commonwealth University)” Desmosomes are crucial for skin and heart development, and JNK may help regulate them.
30 citations
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August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
February 2026 in “bonndoc (University of Bonn)” New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
39 citations
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September 2007 in “BMC developmental biology” Neuregulin3 affects cell development in the skin and mammary glands.
23 citations
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July 2016 in “JAMA Ophthalmology” CDH3-related disease causes worsening eye and hair issues.
November 2023 in “Scientific Reports” A gene mutation in Lama3 is linked to a common type of hair loss.
November 2025 in “PubMed” Genetic variants in specific genes cause a type of hair loss.
39 citations
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September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
99 citations
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March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
40 citations
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November 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” S100A3 protein is crucial for hair shaft formation in mice.