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June 2017 in “Journal of biomedicine and translational research” Lychee fruit polyphenol (Oligonol®) may regulate genes linked to cell growth and inflammation in human scalp cells.
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June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
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January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
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January 2015 in “Indian Dermatology Online Journal” PEODDN is a rare skin disorder with limited treatment options, best treated with laser therapy.
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January 2008 in “World Journal of Gastroenterology” Pegylated interferon-alpha 2a can cause a rare nerve disorder, but early treatment can lead to full recovery.
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April 2011 in “British Journal of Dermatology” New mutations in the DSG4 gene cause a rare hair condition.
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September 2021 in “Hormone and Metabolic Research” Different forms of the Vitamin D receptor can impact metabolic and hormone issues in Polycystic Ovary Syndrome.
February 2026 in “Frontiers in Medicine” Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
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July 2020 in “European Journal of Human Genetics” The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
November 2024 in “Journal of Investigative Dermatology” Understanding snoRNA regulation may help slow skin aging.
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May 2022 in “The FASEB journal” The document concludes that biotin, folate, and RGD peptides are promising for targeting cancer cells with prodrugs, but the conjugates are not yet tested for use.
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January 2021 in “Theranostics” The targeted nanohybrids effectively reduced psoriasis symptoms and improved skin health.
July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology” DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
April 2017 in “Journal of Investigative Dermatology” Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
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August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
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December 2012 in “The American Journal of Human Genetics” Mutations in the SNRPE gene cause hereditary hair loss.
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August 2004 in “Endocrinology” A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.
April 2018 in “Journal of Investigative Dermatology” Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.
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June 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” Putting thymidine dinucleotide on newborn mice's skin can delay and reduce skin cancer.
April 2025 in “Journal of Biophotonics” PBM therapy improves mitochondrial function and promotes tissue regeneration in dental pulp stem cells.
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January 2021 in “Frontiers in genetics” Inherited color dilution in rabbits is linked to DNA methylation changes.
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May 1988 in “Journal of Molecular Evolution” November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.