21 citations
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September 1997 in “British Journal of Dermatology” Monilethrix is linked to the type II keratin gene on chromosome 12q13.
August 2025 in “International Journal of Molecular Sciences” AVT is highly conserved and may have antimicrobial properties.
1 citations
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January 2023 in “Annals of Indian Academy of Neurology” Recognizing CVG can help diagnose systemic amyloidosis early.
2 citations
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January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
2 citations
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June 2012 in “Dermatologica Sinica” Dermoscopy is useful for diagnosing and monitoring discoid lupus erythematosus by showing specific skin patterns.
April 2018 in “Journal of Investigative Dermatology” Ovol2 is important for proper skin healing and hair growth.
1 citations
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June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” GTL1 is needed to control root hair growth and prevent problems when there are too many nutrients.
14 citations
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February 2022 in “The Journal of clinical investigation/The journal of clinical investigation” Scientists made a mouse model of a serious skin cancer by changing skin cells with a virus and a specific gene, which is similar to the disease in humans.
53 citations
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September 2013 in “Journal of Investigative Dermatology” Hair follicle cells help protect against immune attacks by regulating T-cell activity.
4 citations
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February 2022 in “International Journal of Molecular Sciences” Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.
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.
108 citations
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July 2002 in “Molecular and cellular biology” Overexpressing Dsg3 in mice skin causes excessive cell growth and abnormal skin development.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
61 citations
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March 2009 in “The Journal of the American Board of Family Medicine” Early diagnosis and treatment of discoid lupus erythematosus improve outcomes.
July 2007 in “Hair transplant forum international” Patients may be at risk for deep vein thrombosis.
44 citations
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September 2019 in “The EMBO Journal” Lymphatic vessels are essential for hair follicle growth and skin regeneration.
89 citations
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March 1996 in “Proceedings of the National Academy of Sciences” CD18-deficient mice developed psoriasis-like skin disease, useful for studying inflammatory skin disorders.
3 citations
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October 2021 in “Research Square (Research Square)” The model can effectively help diagnose meibomian gland dysfunction automatically.
36 citations
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February 2007 in “Journal of biological chemistry/The Journal of biological chemistry” The vitamin D receptor can work without its usual activating molecule.
1 citations
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March 2015 in “Journal of the European Academy of Dermatology and Venereology” A clinically suspected melanoma appeared benign under the microscope but was confirmed by specific tests and a rare mutation.
3 citations
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April 2010 in “The American Journal of Dermatopathology” Most people with scarring and nonscarring hair loss show similar D2-40 levels, but some with scarring hair loss have higher levels.
45 citations
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January 1999 in “Dermatology” The VQ-Dermato is a reliable French questionnaire for measuring quality of life in chronic skin disorder patients.
1 citations
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January 2020 in “Benha Journal of Applied Sciences” Certain gene variations may increase the risk and severity of alopecia areata.
12 citations
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November 2003 in “Journal of the American Academy of Dermatology” Topical diphencyprone helped regrow hair in mice and rats with a condition similar to human hair loss.
1 citations
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November 2025 in “Wiener Medizinische Wochenschrift” Infectious cerebral vasculitis can be a severe complication of meningoencephalitis, regardless of the pathogen.
44 citations
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September 2011 in “Journal of Pediatric Gastroenterology and Nutrition” NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
23 citations
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January 2015 in “Journal of The American Academy of Dermatology” People with myotonic dystrophy type 1 have a higher chance of getting skin tumors, including melanoma.
February 2026 in “Biomedicine & Pharmacotherapy” MLPH helps hair grow by activating IGF-1 signaling in hair cells.
November 2025 in “Journal of Investigative Dermatology” KLHL24-mutant stem cells help understand skin and heart disease.
1 citations
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August 2013 in “The Journal of Cell Biology” Lack of Evi in skin causes psoriasis-like symptoms in mice.