April 2023 in “Journal of Investigative Dermatology” PTEN was identified as a specific marker for the skin disease cutaneous lupus erythematosus, and it helps increase the expression of harmful type I interferons.
20 citations
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August 2003 in “Clinical and Experimental Dermatology” A new genetic mutation in the hairless gene causes a rare hair loss disorder.
May 2025 in “Dermatology Reports” A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
April 2023 in “Journal of Investigative Dermatology” A protein called MPZL3 in mitochondria slows down hair growth and could be a target for treating hair growth disorders.
September 2025 in “Science Advances” PADI4 enzyme slows down cell growth in developing hair follicles.
Plakophilin 1 helps control skin cell immune responses to prevent excessive inflammation.
1 citations
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September 2020 in “Journal of dermatology” Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
39 citations
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December 1998 in “Journal of Cell Science” The LEF-1 binding site enhances gene expression in hair follicles, with other proteins aiding specific regulation.
71 citations
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January 2011 in “Orphanet Journal of Rare Diseases” IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
7 citations
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July 2008 in “Experimental Dermatology” The study concluded that a protein important for hair strength is regulated by certain molecular processes and is affected by growth phases.
77 citations
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April 2005 in “Journal of Investigative Dermatology” Repetin is a protein involved in skin and hair development, binding calcium and compensating for other proteins when needed.
32 citations
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January 2000 in “Human Heredity” Monilethrix severity varies and may be influenced by other genetic or environmental factors.
July 2024 in “British journal of dermatology/British journal of dermatology, Supplement” A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
June 2010 in “Chinese Journal of Dermatology” A new gene mutation is linked to monilethrix in the studied family.
16 citations
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July 2021 in “American Journal of Medical Genetics Part A” Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
81 citations
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January 2003 in “The FASEB Journal” Follistatin helps hair growth and cycling, while activin prevents it.
September 2025 in “Indian Journal of Dermatology” A Turkish woman has a hair condition caused by a LIPH gene mutation.
Not having the gene PLAAT3 leads to fat loss, high insulin resistance, and abnormal fat levels in the blood due to a disruption in fat cell development and function.
April 2023 in “Journal of Investigative Dermatology” The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
3 citations
,
February 2019 in “Animal biotechnology” The PLP2 gene affects cashmere fiber quality in goats and is linked to hair growth and loss.
62 citations
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March 2017 in “Journal of Investigative Dermatology” Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
February 2026 in “Advanced Science” TTNPB helps turn stem cells into neural stem cells, improving depression-like behaviors in rats.
6 citations
,
March 2016 in “PLoS ONE” The patient's hair was thinner and had fewer lipids due to a genetic mutation.
3 citations
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April 2020 in “American Journal of Case Reports” A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
May 2019 in “CINECA IRIS Institutial Research Information System (University of Genoa)” MITF+ melanoma patients are more likely to have multiple melanomas and unique skin patterns.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” The STRIPAK complex is crucial for skin cell organization and creating a functional skin barrier.
9 citations
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July 2007 in “Circulation Research” Defects in certain proteins cause major heart abnormalities during early development.
29 citations
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August 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes cause the rare hair disorder monilethrix.
Understanding genetics is crucial for treating heart and skin diseases.