75 citations
,
January 2004 in “Molecular and Cellular Biology” XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.
6 citations
,
January 2015 in “Biochemical Society Transactions” The Ysc84/SH3yl1 protein family is important for cell movement and the process of taking in materials by interacting with actin and cell membranes.
15 citations
,
June 2019 in “Journal of Neuroendocrinology” Isoallopregnanolone may be a safe and effective treatment for reducing tics in a mouse model of Tourette syndrome.
May 2024 in “LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas)” Certain gene combinations may affect prostate cancer risk, and GSTP1 methylation is linked to tumor aggressiveness.
April 2018 in “Journal of Investigative Dermatology” 3 citations
,
January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
28 citations
,
May 2000 in “Proceedings of the National Academy of Sciences” The Walleye dermal sarcoma virus cyclin causes excessive skin cell growth in mice.
4 citations
,
January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
1 citations
,
January 2023 in “The FASEB Journal” CircAGK affects cell death in hair cells by controlling the miR-3180-5p/BAX pathway, which can lead to hair loss.
1 citations
,
October 2023 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” A man developed skin lesions as a side effect of a gamma secretase inhibitor used for treating a tumor.
88 citations
,
August 1998 in “Carcinogenesis” High levels of ODC and a mutant Ha-ras gene cause tumors in mice.
53 citations
,
March 2006 in “Biopolymers” TTD hair is brittle due to fewer sulfur amino acids and unstable disulfide bonds.
January 2026 in “Biomaterials” 11 citations
,
January 1999 in “Dermatology” June 2020 in “Jurnal Penyakit Dalam Indonesia” Anti-DFS70 antibodies can help identify nonsystemic autoimmune conditions in SLE patients.
August 2025 in “Journal of Polymer Science” AcD scaffolds improve tissue repair and regeneration by combining stem cells with a supportive matrix.
10 citations
,
October 2018 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” Most skin conditions in Down syndrome are benign and involve dry or thickened skin.
10 citations
,
September 2022 in “Animals” Certain genes affect udder shape in Holstein cows, important for health and milk production.
July 2023 in “International Journal of Molecular Sciences” N,N-Dimethylglycine Sodium Salt helps reduce skin inflammation and improves skin cell growth and healing.
2 citations
,
July 2015 in “Case Reports in Dermatology” DDS treatment for LABD can cause severe side effects like anemia and hair loss, requiring careful monitoring.
April 2020 in “Journal of the Endocrine Society” The patient with a misplaced pituitary gland and interrupted pituitary stalk is being treated with hormone replacement.
July 2025 in “Pediatric Transplantation” A rare skin infection in a 10-year-old kidney transplant patient was successfully managed by adjusting medication.
March 2016 in “The Journal of Urology” The discovery of 5α-reductase deficiency in guevedoces led to the development of important urologic medications.
38 citations
,
May 1971 in “Clinical genetics” A specific metabolite, not a receptor protein, triggers the production of certain kidney enzymes, but this process is disrupted in mice with a mutation causing testicular feminization.
42 citations
,
August 2012 in “Psychoneuroendocrinology” Finasteride reduces certain behaviors caused by D1-like receptor agonists but not by D2-like receptor agonists in mice.
81 citations
,
March 1985 in “Journal of Clinical Investigation” Measuring 24-OHase induction helps identify defects in vitamin D processing and predict treatment response.
2 citations
,
October 2023 in “PubMed” Scientists created a cell model to study and find treatments for a skin disease called RDEB.
78 citations
,
August 2012 in “Human molecular genetics online/Human molecular genetics” A new gene, JMJD1C, may affect testosterone levels in men.
2 citations
,
April 2019 in “Journal of Investigative Dermatology” Gasdermin A3 causes hair follicle stem cells to activate too early, leading to hair loss.
April 2024 in “Research Square (Research Square)” A 27-year-old with APS-1 showed improvement in symptoms after treatment.