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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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January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
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August 2024 in “Molecular Genetics & Genomic Medicine” Biotin mega-dose therapy led to dramatic improvement in a newborn with a rare metabolic disorder.
December 2025 in “BMC Medical Genomics” Hair follicles can be used to study gene expression and understand conditions like COPD.
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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December 2021 in “Molecular genetics and genomics” Cats with abnormal hair had DSG4 gene changes causing hair problems.
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September 2016 in “Reviews in endocrine and metabolic disorders” The skin's ability to produce hormones is linked to various skin conditions, and better understanding this process could lead to new treatments.
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April 2016 in “Molecular Genetics and Genomics” Thymosin beta 4 may help hair growth and could be a treatment for hair issues.
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July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
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September 2018 in “International journal of genomics” Genetic mutations that disrupt homocysteine breakdown lead to increased damage in mouse hair keratin.
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December 2017 in “Journal of neuroendocrinology” Sex and stress steroids quickly change brain cell structures in the hippocampus.
September 2025 in “Psychoneuroendocrinology” Hair glucocorticoids link to type 2 diabetes but not to socioeconomic status.
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April 2017 in “British Journal of Dermatology” Hair loss involves immune responses, inflammation, and disrupted signaling pathways.
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November 2024 in “Blood” PI3Kδ inhibition may effectively treat cutaneous chronic graft-versus-host disease.
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January 2020 in “Journal of Translational Genetics and Genomics” Certain genes may help Bulgarians live longer.
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October 1996 in “Dermatologic clinics” Genes affect cytokine production, which can influence chronic diseases, and certain interventions may help prevent related molecular damage.
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September 2010 in “UEF eRepo (University of Eastern Finland)” Androgen receptors help prostate cancer cells grow and resist drugs.
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December 2023 in “Journal of Molecular Cell Biology” Removing Gsdma1/2/3 genes reduces skin cell overgrowth by blocking a specific cell pathway.
April 2019 in “Journal of Investigative Dermatology” Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.