1 citations
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June 2022 in “JCRPE” Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
5 citations
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April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The gene therapy showed significant wound healing and was safe for treating severe RDEB.
8 citations
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September 2022 in “Human genomics” Key genes and pathways involved in thyroid eye disease were identified, aiding potential treatment and diagnosis.
August 2017 in “Academic Commons (Stony Brook University)” Acer1 is essential for skin health and affects hair growth and skin cancer risk.
April 2018 in “Journal of Investigative Dermatology” Id2 gene helps keep hair follicle stem cells inactive.
11 citations
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December 2013 in “Clinical and experimental dermatology” A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
25 citations
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February 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” Blocking SCD1 in the skin with XEN103 shrinks sebaceous glands in mice.
March 2025 in “International Journal of Trichology” Janus kinase inhibitors may effectively treat resistant scalp conditions like folliculitis decalvans and dissecting cellulitis.
January 2018 in “Stem cell biology and regenerative medicine” ATP-dependent chromatin remodeling is crucial for skin development and stem cell function.
23 citations
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June 2010 in “Journal of Investigative Dermatology” A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.
May 2018 in “The journal of immunology/The Journal of immunology” Mutations in the FOXN1 gene cause severe immune issues but don't affect hair and nails.
37 citations
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April 2011 in “Journal of Biological Chemistry” LEF1 interacts with Vitamin D Receptor, affecting hair follicle regeneration and this could be linked to hair loss conditions.
10 citations
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December 2015 in “International Journal of Molecular Sciences” PDCD4 is important for controlling skin cell growth and healing.
4 citations
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December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
67 citations
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August 2004 in “Endocrinology” A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.
29 citations
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July 2014 in “PloS one” Meis1 is crucial for skin health and tumor development.
19 citations
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December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
33 citations
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June 2007 in “Gene Expression Patterns” CTIP2 may help in skin development and maintenance.
99 citations
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March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
New pyridine compounds effectively inhibit GSK3, a diabetes treatment target.
86 citations
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May 2008 in “Cytokine & growth factor reviews” TNF family proteins are crucial for the development of skin features like hair, teeth, and mammary glands.
April 2008 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” The vitamin D receptor helps control hair growth and may protect against certain skin tumors.
15 citations
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December 2014 in “PLoS ONE” A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
Newly designed proteins can effectively degrade specific proteins in cells, offering a potential new therapy method.
1 citations
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March 2022 in “Journal of Dermatological Science” Adding TERT and BMI1 to certain skin cells can improve their ability to create hair follicles in mice.
5 citations
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January 2011 in “Archives de Pédiatrie” A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
1 citations
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October 2022 in “International journal of endocrinology” Dihydrotestosterone changes some hormone-related gene expressions in rat pituitary glands but doesn't affect the estrous cycle.
64 citations
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March 2004 in “Journal of Clinical Investigation” Targeting ornithine decarboxylase can help prevent skin cancer.
April 2010 in “The journal of immunology/The Journal of immunology” FoxN1 gene is crucial for proper thymus structure and normal skin appearance.