6 citations
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March 2018 in “The American journal of dermatopathology/American journal of dermatopathology” BerEP4 and CD34 staining can help tell apart tricholemmoma from basal cell carcinoma.
September 2023 in “Journal of the American Academy of Dermatology” Children with alopecia areata, especially with Down syndrome or thyroid issues, should be screened for thyroid disease.
January 2010 in “China Animal Husbandry & Veterinary Medicine” RORs may influence cashmere growth cycles.
January 2005 in “Enlighten: Publications (The University of Glasgow)” Melanocyte pathology requires keratinocyte hyperplasia and regulation dysfunction.
June 2025 in “Biomolecules” RORA affects hair follicle stem cells' structure and movement, potentially helping treat hair loss.
260 citations
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July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
October 2025 in “Journal of the Endocrine Society” Rathke’s cleft cysts can rarely cause Cushing disease, and surgery can improve symptoms.
Ribonucleotide excision repair is crucial to prevent skin cancer.
175 citations
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August 1997 in “Nature Genetics”
May 2024 in “British journal of dermatology/British journal of dermatology, Supplement” CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.
September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
18 citations
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January 2015 in “Experimental Dermatology” New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
6 citations
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April 2021 in “Scientific Reports” Phytochrome A is crucial for normal metabolism and development in tomato seedlings under far-red light.
9 citations
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December 2015 in “Journal of Dermatological Case Reports” Narrowband UVB therapy significantly improved a child's rare skin condition.
49 citations
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March 1996 in “Experimental Brain Research” January 2026 in “Human Mutation” T cell subsets are crucial in kidney cancer, and a new model predicts patient outcomes using key genes.
May 2020 in “Research Square (Research Square)” Human stem cells can turn into functional eye cells that might help treat retinal diseases.
68 citations
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August 2009 in “American Journal of Medical Genetics Part A” A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
June 2023 in “British Journal of Dermatology” Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
25 citations
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December 2005 in “Molecular Genetics and Metabolism” Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
21 citations
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January 2006 in “Hormone Research in Paediatrics” A mutation in the VDR gene affects hair cycling without needing ligand binding.
Loss of the p53 gene alone causes tumors, and losing both p53 and Rb genes speeds up aggressive skin cancer.
5 citations
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April 2023 in “Life” CCCA affects adolescents too, with genetic and environmental links, requiring careful diagnosis.
79 citations
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March 2005 in “Journal of Medical Genetics” A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
67 citations
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September 2001 in “American Journal Of Pathology” Inhibiting ODC can prevent UV-induced skin cancer.
September 2024 in “Portuguese Journal of Dermatology and Venereology” CCCA and LPP may be related hair loss conditions influenced by genetics and environment, needing early treatment.
151 citations
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June 2010 in “Endocrinology and metabolism clinics of North America” Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
22 citations
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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.
46 citations
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December 2018 in “Biomedical Optics Express” Raman spectroscopy could effectively guide skin cancer surgery by identifying tumor margins.
Ribonucleotide excision repair is crucial to prevent skin cancer.