13 citations
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August 1985 in “The Journal of Dermatology” HKN-2 antibody targets specific skin and hair cells, showing keratin complexity.
March 2024 in “Research Square (Research Square)” Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
46 citations
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September 2007 in “Journal of Investigative Dermatology”
January 2019 in “Clinical neuropharmacology” A girl's hair-pulling condition improved greatly after she started vitamin D treatment.
31 citations
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November 1991 in “Brain Research” Aδ-LTMRs have complex synapses with glycine, while Aβ-LTMRs have simpler ones.
8 citations
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January 2017 in “Journal of Biological Chemistry” Astrotactin-2 is cleaved in a specific way that helps understand its maturation.
July 2021 in “Journal of dermatology & dermatologic surgery” IMTA can help regrow hair in severe alopecia areata when JAK inhibitors don't work well.
6 citations
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June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
4 citations
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November 1999 in “PubMed” Monilethrix is a rare hair disorder causing beaded, fragile hair, often improving on its own over time.
September 2023 in “Journal of the American Academy of Dermatology” Bullous pemphigoid can look like erythema multiforme, so awareness is needed for proper treatment.
April 2017 in “Medicina Clínica (english Edition)” A woman with a rare form of multiple myeloma had a headache and a skull mass, which led to her diagnosis after tests and a biopsy.
Mutant Cx43 causes slower wound healing and hair growth issues in ODDD.
55 citations
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April 2008 in “Clinical Genetics” A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
January 2012 in “Modern Plastic Surgery” Toe Tourniquet Syndrome is often misdiagnosed.
May 2017 in “Journal of The American Academy of Dermatology” An intact skin barrier is crucial to prevent infection in cases of tether-induced tenosynovitis.
March 2020 in “Research Square (Research Square)” Type 2 diabetic stem cells can still help heal wounds effectively.
67 citations
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August 2004 in “Endocrinology” A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.
19 citations
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December 2006 in “Journal of Structural Biology” Type I and Type II keratin chains can form heterodimers despite sequence differences.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
November 2023 in “Biomolecules” The research showed that Vitamin D and its receptor are important for healthy bones and normal hair and skin in rats.
175 citations
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August 1997 in “Nature Genetics”
September 2022 in “Annals of medicine and surgery” Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
April 2023 in “Journal of Investigative Dermatology” CD8+ T cells attack hair follicle stem cells, causing scarring and hair loss.
1 citations
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September 2022 in “Journal of Medical Case Reports” Rehabilitation therapy helped a severe COVID-19 patient regain muscle mass and return to normal life.
4 citations
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April 2019 in “JAAD Case Reports” DPR can cause skin, hair, and nail issues, sometimes appearing later in life.
12 citations
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July 2015 in “Tissue Antigens” The A allele of the C2 gene increases the risk of lupus, while the G allele may protect against it.
July 2019 in “Journal der Deutschen Dermatologischen Gesellschaft” A mother and daughter have a rare genetic hair loss disorder with no effective treatment.
January 1982 in “Clinical Cosmetic and Investigational Dermatology” Familial dyskeratotic comedones are a rare, inherited skin condition that is hard to treat but may improve slightly with topical retinoids and urea cream.
7 citations
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January 2020 in “Dermatology online journal” An adult with a rare skin condition improved with tazarotene treatment.
2 citations
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March 2016 in “Serbian Journal of Dermatology and Venerology” A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.