20 citations
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February 2004 in “Clinical and Experimental Ophthalmology” Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.
18 citations
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January 1977 in “Annals of Nutrition and Metabolism” Genetic disorders can disrupt mineral and trace element metabolism, affecting health.
16 citations
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July 2019 in “Journal of Cellular Biochemistry” Wnt7a protein is crucial for development and tissue maintenance and plays varying roles in diseases and potential treatments.
13 citations
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February 2004 in “Clinical and Experimental Ophthalmology” A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.
11 citations
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March 2001 in “Clinics in Dermatology” Hair microscopy is useful for diagnosing hair disorders, but clear definitions are needed for accurate genetic analysis.
9 citations
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November 2020 in “The FASEB journal” Intermediate filaments are crucial for cell differentiation and stem cell function.
9 citations
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December 2012 in “Indian Journal of Dermatology Venereology and Leprology” Two sisters had rare, widespread cysts and complete hair loss, suggesting a genetic link.
8 citations
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February 2012 in “International Journal of Dermatology” Runners often face skin problems like blisters and infections, and both prevention and early treatment are important.
6 citations
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September 2017 in “Multiple Sclerosis and Related Disorders” Nail loss may be a side effect of the MS drug teriflunomide.
5 citations
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January 2016 in “Open Journal of Regenerative Medicine” Myoblast transplantation shows promise for treating various muscle and heart conditions.
4 citations
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April 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
3 citations
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May 2019 in “BMJ case reports” A boy with severe immune deficiency and Epstein-Barr virus died from high-grade B-cell lymphoma.
2 citations
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October 2015 in “Human Gene Therapy” The congress highlighted new gene therapy techniques and cell transplantation methods for treating diseases.
1 citations
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July 2023 in “Journal of Ayub Medical College Abbottabad” A woman with Lupus Vasculitis improved after treatment with steroids and other medications.
1 citations
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July 2021 in “Organoid (Online)” Organoid technology is advancing and entering commercial use, with applications in disease modeling, drug development, and personalized medicine.
1 citations
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August 2016 in “Journal of Investigative Dermatology” Vδ1+ T-cells in the skin contribute to hair loss in alopecia areata and could be targeted for treatment.
1 citations
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February 2014 in “Italian journal of medicine” An 80-year-old woman with Cronkhite-Canada syndrome had multiple polyps and symptoms like diarrhea, hair loss, nail issues, and dark skin.
1 citations
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January 1986 in “PubMed” The boy's symptoms suggest a possible new medical condition.
November 2025 in “The Journal of Immunology” BTNL2 helps protect hair follicles from immune attacks, which could aid in treating alopecia areata.
January 2025 in “Dermatology Reports” Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
September 2024 in “Clinical Case Reports” Early recognition and multidisciplinary management of Whitaker syndrome can improve patient outcomes.
January 2024 in “Wiadomości Lekarskie” AI and advanced technologies are improving medical diagnostics and treatments.
January 2024 in “Wiadomości Lekarskie” AI and new therapies show promise in medicine, especially for cancer and regenerative treatments.
August 2023 in “Gastroenterology” A 78-year-old man with Cronkhite-Canada syndrome improved significantly after treatment and remains symptom-free.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Prostaglandin E2 helps prevent hair loss from radiotherapy by protecting hair cells.
September 2021 in “Pediatrics in review” A baby with KID syndrome died from infections and organ failure at 18 months old.
March 2019 in “SLAS TECHNOLOGY” New technologies show promise in healing wounds, treating cancer, autoimmune diseases, and genetic disorders.
September 2017 in “Pediatric Dermatology” The document concludes that an experimental drug may help wound healing in Epidermolysis Bullosa, links Hydroa vacciniforme to EBV, discusses diagnosing hair loss disorders, finds many children with eczema have allergies, reviews the safety of a skin medication in children, notes side effects of a Duchenne's treatment, and identifies a marker for pediatric mastocytosis.
May 2017 in “The journal of immunology/The Journal of immunology” Patients with certain FoxN1 gene mutations have severe immune issues but normal skin and hair.
November 2016 in “Therapeutic Delivery” New drugs for Alzheimer's and rheumatoid arthritis advanced, a Zika vaccine is in development, and there were business deals in anesthesia and oncology.