October 2023 in “Scientific Reports” Gene therapy helped rats with a specific type of rickets grow hair without severe inflammation.
December 2004 in “SUNScholar (Stellenbosch University)” Certain genetic markers can indicate a person's risk of developing prostate cancer.
147 citations
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October 2021 in “Cancer Communications” RC48 shows promise for treating certain advanced cancers, but more research is needed.
15 citations
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March 2021 in “EMBO Reports” PRSS35 enzyme may help start skin tumors and could be a target for cancer treatment.
25 citations
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September 2005 in “Journal of the American Academy of Dermatology” Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
The microenvironment affects the behavior and survival of melanocytes with the GNAQ oncogene in melanoma.
4 citations
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January 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A faulty KLHL24 gene leads to hair loss by damaging hair follicle stem cells.
6 citations
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February 2004 in “Clinical and Experimental Ophthalmology” The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.
5 citations
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January 2012 in “Indian Journal of Dermatology Venereology and Leprology” Werner's syndrome causes early aging and increases cancer risk, requiring early diagnosis and symptom management.
153 citations
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April 1998 in “Current Biology” The risk of skin tumors becoming malignant depends on the specific skin cell type affected.
2 citations
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July 2011 in “AFRICAN JOURNAL OF BIOTECHNOLOGY” Seven genetic variations in sheep's DSG4 gene are linked and affect wool traits.
February 2026 in “International Journal of Dermatology” Ritlecitinib shows promise in improving hair regrowth in adolescents with alopecia areata.
July 2025 in “Human Genomics” New LSS gene variants help understand congenital hypotrichosis 14 better.
5 citations
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January 2017 in “Arquivos Brasileiros de Oftalmologia” A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
1 citations
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September 2024 in “Animals” Specific gene variants affect wool traits in Chinese Tan sheep.
1 citations
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January 2024 in “Pediatric Endocrinology Diabetes and Metabolism” Cinacalcet may help treat hereditary vitamin D resistant rickets safely.
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.
May 2026 in “Frontiers in Medicine” The patient's hair improved after treatment, but the genetic link is unclear.
62 citations
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January 2010 in “Hormone research in paediatrics” Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
24 citations
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January 2019 in “Theranostics” Loss of Pten in certain hair follicle stem cells increases skin cancer risk.
125 citations
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August 2003 in “Development” Mice with human-like EGFR had growth issues, skin defects, heart problems, and unusual bone development.
4 citations
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June 2020 in “DOAJ (DOAJ: Directory of Open Access Journals)” A woman with Rhupus and Rowell syndrome was treated successfully with medication adjustments.
7 citations
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March 2024 in “Skin Research and Technology” miR-200c-3p could help diagnose and treat alopecia areata.
4 citations
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March 2000 in “Journal of Investigative Dermatology” The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21, near the hairless gene.
44 citations
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January 2017 in “Journal of Investigative Dermatology” Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
April 2023 in “Journal of Investigative Dermatology” PTEN was identified as a specific marker for the skin disease cutaneous lupus erythematosus, and it helps increase the expression of harmful type I interferons.
165 citations
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September 2001 in “Genes & development” CDP is crucial for lung and hair follicle cell development.
13 citations
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February 2025 in “Journal of the European Academy of Dermatology and Venereology” Ritlecitinib shows promise for treating alopecia areata, especially with early and extended treatment.
September 2024 in “Drugs & Therapy Perspectives” Ritlecitinib effectively regrows hair in severe alopecia areata and is well tolerated.
12 citations
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July 2016 in “British journal of dermatology/British journal of dermatology, Supplement” Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.