60 citations
,
July 2020 in “ACS Nano” Using CRISPR for gene editing in the body is promising but needs better delivery methods to be more efficient and specific.
32 citations
,
January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
32 citations
,
August 2003 in “Journal of the European Academy of Dermatology and Venereology” cGVHD often severely affects the skin, causing rapid aging and other issues.
25 citations
,
March 2021 in “Australasian Journal of Dermatology” Ustekinumab successfully treated a man's resistant skin condition when other treatments failed.
23 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” A boy with chromosome 13q deletion syndrome developed eye cancer, a woman with breast cancer lost vision due to a rare side-effect of her treatment, a man's vision worsened after using a hair loss drug, and two rare disorders were discussed. Optical Coherence Tomography is useful for diagnosing and monitoring these conditions.
21 citations
,
April 2004 in “Australasian Journal of Dermatology” A 3-year-old girl has a rare condition causing sparse hair and nail issues, with minimal improvement from treatment.
20 citations
,
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
,
January 1977 in “Annals of Nutrition and Metabolism” Genetic disorders can disrupt mineral and trace element metabolism, affecting health.
16 citations
,
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
,
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
,
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
,
November 2020 in “The FASEB journal” Intermediate filaments are crucial for cell differentiation and stem cell function.
9 citations
,
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
,
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
,
September 2017 in “Multiple Sclerosis and Related Disorders” Nail loss may be a side effect of the MS drug teriflunomide.
5 citations
,
January 2016 in “Open Journal of Regenerative Medicine” Myoblast transplantation shows promise for treating various muscle and heart conditions.
4 citations
,
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
,
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
,
October 2015 in “Human Gene Therapy” The congress highlighted new gene therapy techniques and cell transplantation methods for treating diseases.
1 citations
,
July 2023 in “Journal of Ayub Medical College Abbottabad” A woman with Lupus Vasculitis improved after treatment with steroids and other medications.
1 citations
,
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
,
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
,
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
,
January 1986 in “PubMed” The boy's symptoms suggest a possible new medical condition.
July 2026 in “Pharmaceuticals” Aging and chronic diseases impair muscle repair, but integrated therapies like exercise and gene editing may help.
April 2026 in “Regenerative Medicine” Significant progress and investment in advanced therapies and regenerative medicine continue.
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.