7 citations
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February 2024 in “ACS Applied Materials & Interfaces” A new light-activated treatment speeds up healing of infected wounds without antibiotics.
309 citations
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June 2001 in “Molecular and Cellular Endocrinology” Mutations in the androgen receptor gene cause androgen insensitivity, leading to female traits in genetically male individuals.
3 citations
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February 2013 in “Actas dermo-sifiliográficas/Actas dermo-sifiliográficas” A 6-year-old boy developed excessive hair growth after taking diazoxide for low blood sugar.
September 2023 in “Acta dermato-venereologica” Pilonidal sinus disease is linked to more severe hidradenitis suppurativa.
1 citations
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January 1985 in “IRIS UNIMORE (University of Modena and Reggio Emilia)” September 2012 in “Annals of saudi medicine/Annals of Saudi medicine” The twins' condition is unique and doesn't match any known syndromes.
1 citations
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March 2023 in “European Journal of Human Genetics” The UK's EDS National Diagnostic Service found that early diagnosis, lifestyle advice, and regular check-ups are crucial for managing vascular Ehlers-Danlos syndrome. A combination of losartan and bisoprolol can reduce vascular events, improving survival and quality of life.
May 2017 in “American Society of Health-System Pharmacists eBooks”
26 citations
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June 2018 in “The journal of immunology/The Journal of immunology” AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
13 citations
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July 2009 in “Pediatrics in Review” Early diagnosis and treatment of congenital adrenal hyperplasia are crucial to manage symptoms and prevent complications.
January 2017 in “International journal of biomedical engineering and clinical science” Cri-du-chat syndrome can cause skin and oral lesions affecting nutrition and quality of life.
24 citations
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March 2022 in “Genome biology” scINSIGHT accurately identifies cell clusters and gene patterns in complex data.
April 2023 in “Journal of Investigative Dermatology” Interface dermatitis is the most common skin change in drug-induced hypersensitivity syndrome.
November 2020 in “Zenodo (CERN European Organization for Nuclear Research)”
1 citations
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June 2023 in “The FASEB journal” LSD1 and HSP90 help heal skin wounds by changing hair follicle stem cells' metabolism.
December 2016 in “Asian Pacific journal of cancer biology” PCOS is a hereditary disorder that can lead to diabetes and heart disease if not treated early.
3 citations
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October 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” scINSIGHT helps understand single-cell gene expression better than current methods.
September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
January 2023 in “Brazilian Journals Editora eBooks”
5 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” The research linked PLCD1 gene variants to the development of trichilemmal cysts.
September 2014 in “Archives of disease in childhood” A 12-year-old boy had severe shingles and skin damage after a stem-cell transplant.
234 citations
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April 2000 in “Gene” Msx and Dlx genes are crucial for development, controlling cell behaviors like growth and differentiation through their roles as gene regulators.
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June 2023 in “Curēus” PCOS affects nearly 25% of female medical and dental students, impacting their academic and social lives.
February 2023 in “Default Digital Object Group”
1 citations
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December 2019 in “Acta Medica Medianae” Connubial contact dermatitis is often missed, making treatment harder.
1 citations
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November 2021 in “World Family Medicine Journal /Middle East Journal of Family Medicine” The document outlines a plan to test if certain methods can prevent developmental delays in children at Pakistani public healthcare centers.
11 citations
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January 2010 in “Current problems in dermatology” Ichthyoses are genetic skin disorders that affect the skin's barrier function.
December 2024 in “Frontiers in Pediatrics” Baricitinib improved platelet counts and alopecia in a 16-year-old with chronic immune thrombocytopenia.