40 citations
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November 2021 in “International Journal of Molecular Sciences” Mutant keratins cause inflammation in Epidermolysis Bullosa Simplex, suggesting targeting them could help treat the disorder.
April 2026 in “International Journal of Molecular Sciences” Wnt signaling is crucial for skin, hair, and nail health and regeneration.
26 citations
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July 2019 in “Dermatology and Therapy” The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
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August 2020 in “Genes” Different genes are active in dogs' hair growth and skin, similar to humans, which helps understand dog skin and hair diseases and can relate to human conditions.
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April 2022 in “Genes” The study found that the hair loss condition in Cesky Fousek dogs is influenced by multiple genes affecting skin and muscle structure, fat metabolism, and immunity.
192 citations
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January 2018 in “Burns & Trauma” Current skin substitutes help heal severe burns but don't fully replicate natural skin features.
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October 2021 in “Frontiers in Cell and Developmental Biology” Non-coding RNAs are important for hair growth and could lead to new hair loss treatments, but more research is needed.
October 2025 in “Medical Journal of Babylon” Higher testosterone and lower Vitamin D levels are linked to hair loss in female COVID-19 patients.
67 citations
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August 2007 in “American Journal of Pathology” Overexpressing the mineralocorticoid receptor in mouse skin causes skin thinning, early skin barrier development, eye issues, and hair loss.
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March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
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June 1991 in “Journal of Medical Genetics” X-linked mental retardation includes various syndromes with both mental and physical abnormalities.
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April 2013 in “Proceedings of the National Academy of Sciences of the United States of America” FGF13 gene changes cause excessive hair growth in a rare condition.
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January 2000 in “Dermatology” Gene linked to common hair loss found, may lead to new treatments.
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September 2003 in “Journal of Investigative Dermatology” New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
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January 2000 in “Dermatology” Men with X-linked recessive ichthyosis can still experience male-pattern baldness.
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January 1999 in “Dermatology” Men with X-linked recessive ichthyosis may not experience typical male-pattern baldness.
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March 2012 in “European Journal of Pediatrics” A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
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January 2020 in “BMC Medical Genetics” A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
6 citations
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January 2003 in “Dermatology” Men with X-linked recessive ichthyosis often experience male-pattern baldness.
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April 2012 in “Journal of the American Academy of Dermatology” Men with Addison disease should be screened for X-linked adrenoleukodystrophy if they have hair loss.
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November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
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.
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January 2010 in “GenomeBiology.com (London. Print)” The research concluded that selection significantly shaped the genetic variation of the X chromosome, with certain regions affected by past selective events.
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September 1987 in “Acta Dermato Venereologica” Recessive X-linked ichthyosis involves a less efficient enzyme in hair follicles, suggesting two distinct enzymes.
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May 1971 in “Clinical genetics” A specific metabolite, not a receptor protein, triggers the production of certain kidney enzymes, but this process is disrupted in mice with a mutation causing testicular feminization.
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August 2009 in “Journal of Pediatric Gastroenterology and Nutrition” Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
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March 2004 in “International Journal of Dermatology” A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.
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November 2023 in “Cureus” Early diagnosis of Bloch-Sulzberger Syndrome is crucial to prevent severe complications.
January 2025 in “Scholarly Commons (University of Pennsylvania)” UTX is important for skin health and its loss can lead to skin issues, especially in females.
1 citations
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February 2023 in “Pediatric Dermatology” Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.