16 citations
,
January 2010 in “American Journal of Neuroradiology” Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
April 2025 in “The Egyptian Journal of Hospital Medicine” Expanding premarital screening to include skin conditions, STDs, infertility, and male disorders can improve marriage stability.
11 citations
,
December 2013 in “Clinical and experimental dermatology” A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
September 2017 in “Current Issues in Pharmacy and Medical Sciences” Mesenchymal stem cells are effective and safe for treating various diseases in children.
189 citations
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July 2009 in “The Journal of clinical investigation/The journal of clinical investigation” Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
32 citations
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June 2024 in “Pharmaceutics” Nanoformulations improve drug delivery through the skin, reducing side effects and enhancing effectiveness.
June 2020 in “Comparative medicine” NSG mice had the most mites, and genetic factors affect immune response and susceptibility.
June 2026 in “Drug Delivery and Translational Research” The solid microneedle booster improves hair regrowth and follicle enrichment when used with minoxidil.
February 2026 in “Frontiers in Immunology” Human amniotic stem cells can safely treat psoriasis-like skin in mice.
6 citations
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November 2008 in “Journal of Dermatological Science” Certain proteins involved in DNA modification may affect the genetic changes in systemic lupus erythematosus and could indicate the disease's activity.
November 2024 in “JAAD Case Reports” A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
26 citations
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April 2011 in “British Journal of Dermatology” New mutations in the DSG4 gene cause a rare hair condition.
3 citations
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January 2019 in “Journal of Dermatology” The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
January 2024 in “Kafkas Universitesi Veteriner Fakultesi Dergisi” A specific genetic variation affects wool quality in sheep.
8 citations
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January 2014 in “Indian Dermatology Online Journal” Trichostasis spinulosa is a common but often unnoticed skin condition involving bundled vellus hairs, especially in people with darker skin or UV exposure.
June 2024 in “British Journal of Dermatology” Scalp disease in dermatomyositis causes significant symptoms and has unique features.
January 2009 in “Epsilon: Revista de la Sociedad Andaluza de Educación Matemática "Thales"” A CCS patient with severe complications was successfully treated using combined therapies.
4 citations
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July 2012 in “Genesis” The Megsin-Cre transgene is a new tool for genetic manipulation in the skin and upper digestive tract.
2 citations
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September 2021 in “Universal Journal of Pharmaceutical Research” PCOS is linked to hormone disorders and issues like infertility and irregular periods.
100 citations
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March 2006 in “Journal of biological chemistry/The Journal of biological chemistry” Cystatin M/E strongly inhibits cathepsin V and cathepsin L, important for skin formation.
25 citations
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December 2021 in “Stem Cell Research & Therapy” MSCs and their exosomes may speed up skin wound healing but need more research for consistent use.
18 citations
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January 2002 in “Pediatric Dermatology” A rare skin condition in children can look like other diseases.
October 2023 in “Journal of dermatological science” New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
July 2021 in “British Journal of Dermatology” The boy's genetic diagnosis of ectodermal dysplasia helped improve management and counseling for him and his sister.
8 citations
,
February 2021 in “Journal of Clinical Medicine” Hair follicle stem cells are promising for blood vessel formation and tissue repair.
December 2011 in “Journal of the Turkish Academy of Dermatology” Pityriasis rubra pilaris can occur with myasthenia gravis.
3 citations
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October 2010 in “Dermatologic Surgery” The new surgical technique for vitiligo is effective, safe, and cost-efficient.
January 2026 in “Frontiers in Medicine” A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
March 2022 in “Research Square (Research Square)” A new growth medium doubles Malassezia restricta yield by using artificial sebum.
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.