November 2024 in “Journal of Investigative Dermatology” Blocking the JAK/STAT pathway may help reduce skin sensitivity in Xeroderma pigmentosum.
3 citations
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July 2022 in “Brain and Behavior” The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
5 citations
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July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
July 2025 in “SVU-International Journal of Medical Sciences” Children with Vitamin D-dependent rickets type II may have severe dental issues that need a team of specialists for proper care.
6 citations
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June 2016 in “Journal of cellular biochemistry” The Hr protein binds to DNA, interacts with p53, and affects cell cycle genes.
6 citations
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March 2016 in “PLoS ONE” The patient's hair was thinner and had fewer lipids due to a genetic mutation.
5 citations
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February 2008 in “Histopathology” 35 citations
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May 2006 in “Journal of Investigative Dermatology” Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
August 2018 in “Journal of the American Academy of Dermatology” Reflectance confocal microscopy helped diagnose and manage a woman's hair loss without needing a biopsy.
11 citations
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April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
13 citations
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July 2004 in “Pediatric dermatology” A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
2 citations
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January 2011 in “Dental Medicine Research” Keratin 75 might be important in oral cancer progression.
November 2025 in “BMC Genomics” Wrinkled skin in Xiang pigs is linked to gene changes related to oxidative stress and the extracellular matrix.
July 2022 in “Skin research and technology” Skin CT can help diagnose rosacea by identifying specific skin features, but should be used with clinical signs to avoid misdiagnosis.
4 citations
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January 1994 in “Current Opinion in Endocrinology & Diabetes” PTHrP regulates various normal body functions, including bone development, skin, and muscle function.
June 1999 in “Connective tissue” 39 citations
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January 1977 in “Dermatology” The treatment cleared psoriasis in some patients but caused side effects in most.
December 2024 in “Animals” RORA may help regulate hair growth by affecting hair follicle stem cells.
4 citations
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February 2023 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” The study found that certain mutations in the vitamin D receptor can cause rickets and potentially affect hair growth.
April 2019 in “Journal of Investigative Dermatology” Researchers created a new mouse model for studying scleroderma.
36 citations
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January 2007 in “Archives of Histology and Cytology” Type IV collagen chains vary in different parts of human skin, with specific patterns linked to melanocytes.
January 2004 in “Pharmaceutical biotechnology” Finasteride effectively inhibits the enzyme steroid 5 alpha-reductase II.
September 2016 in “Hair transplant forum international” The document's content couldn't be processed to provide a conclusion.
March 2016 in “Hair transplant forum international” The document's content couldn't be processed to provide a conclusion.
12 citations
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January 2001 in “Der Hautarzt” Trichorhinophalangeal syndrome causes hair, facial, and bone issues, with no specific treatment beyond gentle care.
2 citations
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January 2016 in “Scientifica” Researchers created a reliable method to measure dexpanthenol and resorcinol in hair products.
1 citations
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January 2023 in “Pediatric Dermatology” Early diagnosis and teamwork are crucial for managing ILVASC effectively.
January 2025 in “JCEM Case Reports” Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
6 citations
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August 2012 in “The Journal of Pediatrics” A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.