66 citations
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October 2002 in “Human molecular genetics online/Human molecular genetics” A gene mutation in mice causes skin defects and early death.
The study aims to create a model to improve personalized and preventive health care.
1 citations
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October 2023 in “Heliyon” An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
26 citations
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October 2002 in “Journal of Investigative Dermatology” A specific gene mutation causes congenital hair loss.
10 citations
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July 2001 in “PubMed” A new type of pachyonychia congenita may exist, caused by a different keratin mutation.
June 2026 in “arXiv (Cornell University)” The new method improves SNP analysis in genetic studies by combining tests, enhancing accuracy and cost-effectiveness.
16 citations
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April 2024 in “Proceedings of the National Academy of Sciences” HDAC4 and HDAC7 are crucial for Th17 cell development and could be targeted to treat inflammatory diseases.
October 2023 in “Research Square (Research Square)” The new composite scaffold may effectively treat chronic and deep wounds.
85 citations
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March 2008 in “Journal of Cell Science” The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
99 citations
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September 2004 in “Development” Proper hedgehog signaling is crucial for maintaining healthy skin stem cells.
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July 2021 in “Acta dermatovenerologica Croatica” Adalimumab significantly improved symptoms and quality of life in two patients with Hidradenitis Suppurativa.
4 citations
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January 2012 in “International Journal of Cardiology” Dihydrotestosterone (DHT) worsens heart enlargement, and blocking it may help prevent heart issues.
18 citations
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December 2010 in “The Journal of Steroid Biochemistry and Molecular Biology” Increased HSD11B1 enzyme expression is linked to higher body fat and insulin resistance.
4 citations
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September 2011 in “American Journal of Clinical Dermatology” Ethinylestradiol/chlormadinone acetate may be an effective and well-tolerated treatment for skin conditions caused by excess androgens.
19 citations
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July 2017 in “Pediatric Dermatology” Finasteride improves hidradenitis suppurativa in children with no adverse effects.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin organoids with NCSTN mutation show changes in hair follicle development and higher inflammation, key features of Hidradenitis Suppurativa.
June 2023 in “GSC Advanced Research and Reviews” Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
January 2024 in “Clinical, cosmetic and investigational dermatology” A child with a rare vitamin D-resistant condition improved with treatment.
December 2022 in “Archives of Clinical Trials” Treating PCOS patients with HP HMG significantly raises the risk of ovarian hyperstimulation syndrome, needing careful dose management.
1 citations
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September 2025 in “Viruses” Hantavirus survivors often face long-term health issues, needing ongoing care.
3 citations
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December 2022 in “The Neurologist” CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.
1 citations
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September 2002 in “European Journal of Endocrinology” Triple H syndrome exists and can vary in symptoms.
January 2011 in “Revista Portuguesa de Endocrinologia Diabetes e Metabolismo” Congenital adrenal hyperplasia may be linked to adrenal myelolipoma.
1 citations
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December 2018 in “Veterinary dermatology” The hair coat disorder in Schipperkes is similar to Alopecia X and involves increased androstenedione levels and hair cycle arrest.
January 2020 in “Acta dermato-venereologica” People with certain hair disorders may also have missing permanent teeth.
1 citations
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August 2023 in “Nature communications” Hdac1 and Hdac2 help maintain and protect the cells that control hair growth.
37 citations
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January 1993 in “Journal of Investigative Dermatology”
7 citations
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December 2015 in “International Journal of Dermatology” New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
1 citations
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April 2022 in “AACE clinical case reports” A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.