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July 2023 in “Nature communications” MOF controls key genes for skin development by regulating mitochondrial and ciliary functions.
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July 2022 in “Вопросы современной педиатрии” Progeria causes early aging due to a gene mutation, affecting skin, bones, and heart, with treatments aimed at improving life quality.
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June 2022 in “JCRPE” Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
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June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” Activating β-catenin in mammary cells leads to changes that cause early-stage abnormal growths similar to skin structures.
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February 2021 in “Scholars international journal of anatomy and physiology” Different forms of FGF5 either promote or inhibit hair growth.
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August 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
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January 2015 in “Case reports in endocrinology” Women with nonclassical congenital adrenal hyperplasia may have a higher risk of fertility issues and miscarriages, and should get genetic counseling.
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February 2013 in “Clinical pediatrics” The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
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May 2011 in “Molecular Medicine Reports” The -866G/A polymorphism in the UCP2 gene is not linked to polycystic ovary syndrome.
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January 2009 in “Trepo - Institutional Repository of Tampere University” Vitamin D may help regulate cholesterol and influence prostate cancer development.
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October 1990 in “The Lancet” Using minoxidil for hair growth may cause skin lesions in some people, and taking breaks from nitrate patches for angina might worsen symptoms.
October 2025 in “Scientific Reports” AR gene variations don't affect aging markers in men.
October 2025 in “Communications Medicine” Combining genetic and physical data improves diagnosis and treatment for early-onset monogenic diabetes.
Correcting EDA fibronectin organization and YAP translocation can improve wound healing in fibrotic conditions.
ARHGEF3 is essential for proper hair follicle development.
April 2024 in “Research Square (Research Square)” A 27-year-old with APS-1 showed improvement in symptoms after treatment.
January 2024 in “Theranostics” HDAC6 helps keep ovarian follicles dormant, extending female fertility.
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 2022 in “Journal of Biomedical Research & Environmental Sciences” Certain gene variations may increase the risk of PCOS in South Indian women.
November 2018 in “Atlas of genetics and cytogenetics in oncology and haematology” WNT10B is linked to cancer development and affects survival and disease progression in various cancers.
May 2018 in “European Journal of Dermatology” The first Japanese family with Marie Unna hereditary hypotrichosis showed hair condition improvement in a child and highlighted the risk of misdiagnosis.
May 2018 in “European Journal of Dermatology” Adjusting the medication tacrolimus resolved a boy's red nail beds after a stem cell transplant.
May 2017 in “American Society of Health-System Pharmacists eBooks”
November 2014 in “Elsevier eBooks” Gene mutations can cause problems in male genital development.
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July 2006 in “Endocrine Reviews” Estrogens significantly influence hair growth by interacting with receptors in hair follicles and may help regulate the hair growth cycle.
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January 2011 in “Blood” Thymus transplantation successfully restored immune function in infants with FOXN1 deficiency.
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July 2012 in “PLoS Genetics” A mutation in the KRT75 gene causes frizzle feathers in chickens.
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June 2001 in “Endocrinology” Prolactin affects when mice shed and grow hair.
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June 2012 in “Annales d'Endocrinologie” The document concludes that recognizing and properly diagnosing lipodystrophy syndromes is crucial for effective management and treatment.