4 citations
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January 2017 in “Acta dermato-venereologica” A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
November 2025 in “Journal of Diabetes Investigation” Dapagliflozin improved blood sugar control in a man with Werner syndrome without side effects.
August 2025 in “American Journal of Case Reports” Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
October 2023 in “Pediatric dermatology” Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
May 2022 in “The journal of immunology/The Journal of immunology” FOXN1 is crucial for thymus development and immune response in Xenopus laevis.
January 2022 in “Indian dermatology online journal” A baby with a skin condition improved with treatment but developed a rare form of the condition affecting only his trunk.
April 2016 in “Journal of Investigative Dermatology” Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
May 2014 in “The journal of immunology/The Journal of immunology” Early over-expression of FoxN1 harms immune and skin development.
April 2010 in “The journal of immunology/The Journal of immunology” FoxN1 gene is crucial for proper thymus structure and normal skin appearance.
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January 2000 in “Developmental Dynamics” Mutations in the Whn gene affect hair keratin gene expression differently.
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September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
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July 2022 in “Journal of Medicinal Chemistry” Adding a second method to PROTACs could improve cancer treatment.
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December 2015 in “International journal of immunopathology and pharmacology” AE can have varied symptoms and genetic causes, but zinc therapy helps.
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May 2024 in “BMC Medical Genomics” A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
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August 2023 in “Autophagy” Autophagy helps control skin inflammation and cancer responses and regulates hair growth by affecting stem cell activity.
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September 2014 in “Hormones” Over a third of women thought to have non-classical congenital adrenal hyperplasia didn't have it confirmed by genetic tests.
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May 2015 in “PloS one” GALT5 and GALT2 are important for plant growth and development because they help with protein glycosylation.
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May 2024 in “American Journal of Medical Genetics Part A” Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
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January 2014 in “Indian Journal of Paediatric Dermatology” Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
June 2025 in “Molecular Genetics & Genomic Medicine” Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
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January 2022 in “Signal Transduction and Targeted Therapy” The Wnt/β-catenin pathway is important for body functions and diseases, and targeting it may treat conditions like cancer, but with safety challenges.
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April 2010 in “Developmental Biology” Sebaceous glands can form new hair follicles when activated, but hair follicle bulges cannot.
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February 2024 in “The Journal of Physiology” Reduced plakoglobin and steroid abuse increase the risk of heart rhythm issues.
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September 2012 in “BMJ case reports” Ashwagandha may improve hormone levels and reduce hair loss in non-classical adrenal hyperplasia.
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May 2023 in “Cells” Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
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December 2022 in “International Journal of Molecular Sciences” Zinc is crucial for skin health and treating various skin disorders.
December 2025 in “Journal of Clinical Medicine” Surgical debridement and targeted therapies can effectively heal chronic wounds in KID syndrome.
288 citations
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January 2001 in “Journal of Biological Chemistry” Tgm2 helps stabilize dying cells and aids fibroblast attachment to the extracellular matrix.
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February 2023 in “International Journal of Molecular Sciences” Flavonoids can help heal wounds effectively due to their beneficial properties.