July 2024 in “Journal of Investigative Dermatology” Brepocitinib improves cicatricial alopecia and reduces key immune markers.
1 citations
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July 2017 in “PubMed” Two patients with Cronkhite-Canada syndrome achieved remission after treatment.
32 citations
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June 2013 in “Journal of Investigative Dermatology” Mice without certain skin proteins had abnormal skin and hair development.
November 2022 in “Journal of Investigative Dermatology” The medicine Cyclosporin A might cause excessive hair growth by reducing a protein that controls hair growth.
July 2024 in “Journal of Investigative Dermatology” Targeting TCR-Vβ2 in cutaneous T cell lymphoma shows promise for safer, more specific treatment.
January 2026 in “Biomolecules” TSC22D genes are key in metabolic diseases and cancer, offering potential as treatment targets.
5 citations
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July 1996 in “Journal of Cutaneous Medicine and Surgery” TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.
SNP rs2479106 in the DENND1A gene may increase PCOS risk in Saudi Arabian females.
October 1993 in “The Journal of Clinical Pharmacology” 13 citations
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June 2024 in “Frontiers in Genetics” About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
September 2022 in “JAAD case reports” The man has a genetic skin condition called pachyonychia congenita.
April 2024 in “Research Square (Research Square)” A 27-year-old with APS-1 showed improvement in symptoms after treatment.
August 2024 in “Veterinary Dermatology” Topical ceramide treatment partially improves the skin condition in Jack Russell Terriers with a genetic skin disorder.
26 citations
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December 2020 in “Nature metabolism” Rapamycin treatment helps with mitochondrial disease by reducing PKC levels.
April 2024 in “Journal of the American Academy of Dermatology” Diagnosing and treating CCCA requires understanding multiple causes and using various diagnostic tools.
175 citations
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September 1998 in “British Journal of Dermatology” Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
1 citations
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March 2022 in “Journal of Dermatological Science” Adding TERT and BMI1 to certain skin cells can improve their ability to create hair follicles in mice.
August 2019 in “Journal of Investigative Dermatology” Frog skin cells need the protein desmoplakin for proper development and cell layer formation.
5 citations
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September 2017 in “Medicine” A patient with Cronkhite-Canada Syndrome developed colon cancer that spread to the liver, showing the need for regular cancer checks in such patients.
12 citations
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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.
1 citations
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June 2015 in “Australasian Journal of Dermatology” A patient with Cronkhite-Canada syndrome improved with nutritional support and steroids, but early diagnosis is key due to high mortality.
June 2025 in “Stem Cells and Cloning Advances and Applications” CFx-δ2 from stem cells helps heal burn wounds faster.
56 citations
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December 2011 in “Steroids” The document suggests treating individuals with nonclassic congenital adrenal hyperplasia who show symptoms, especially those related to excess male hormones.
37 citations
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September 2012 in “Archives of dermatology” Diphencyprone can help some children with alopecia areata regrow hair, but it often causes side effects.
2 citations
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February 2025 Merkel cell polyomavirus can infect and persist in skin cells, evading the immune system, but certain treatments can control it.
November 2023 in “Frontiers in pharmacology” Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.
48 citations
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January 2003 in “Fertility and Sterility” There's no significant link between the D19S884 marker at the insulin receptor gene and polycystic ovary syndrome.
24 citations
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January 2018 in “Development” Frizzled 3 and Frizzled 6 together control the orientation of mouse hair follicles.
10 citations
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October 2018 in “Journal of molecular and cellular cardiology/Journal of Molecular and Cellular Cardiology” The gene NM_026333 slows down aging by affecting the NCX1 pathway and could be targeted for anti-aging treatments.
94 citations
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July 2020 in “European Journal of Human Genetics” The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.