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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.
January 2026 in “Frontiers in Medicine” A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
September 2025 in “Experimental & Molecular Medicine” Small molecules KY19382 and KY19334 may help treat skin cancer by reducing CDK1 levels and blocking harmful cell signals.
December 2024 in “Journal of Clinical Research in Pediatric Endocrinology” 21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.
September 2019 in “Romanian Journal of Pediatrics” Fetal skin can heal without scars, offering insights for better wound treatments.
ETS2 is crucial in squamous cell carcinoma development and could be a therapeutic target.
July 2020 in “Research Square (Research Square)” A 3D co-culture model improved stem cell function and wound healing.
June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Lef1 helps adult skin cells maintain their ability to heal wounds and regenerate hair, but the study's methods and conclusions have been questioned.
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January 2022 in “Burns & Trauma” WNT5A contributes to keloid scars by promoting cell changes through specific signaling pathways.
April 2019 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” PCOS shares similar genetic traits across different diagnosis criteria and is linked to other health conditions.
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August 2010 in “PLoS ONE” Selenoproteins are crucial for healthy skin and hair.
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September 2005 in “The American journal of pathology” Activin helps skin growth and healing mainly through stromal cells and affects keratinocytes based on its amount.
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October 2010 in “Mammalian genome” Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
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June 2010 in “PLoS Genetics” A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
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April 2010 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
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August 2018 in “Nature Communications” JunB is crucial for maintaining healthy skin and hair follicles.
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July 2018 in “Frontiers in Neurology” Myotonic dystrophy may be classified as a segmental progeroid disorder.
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November 2015 in “Experimental Cell Research” Sebum from sebocytes is important for skin health and linked to conditions like acne and hair loss.
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September 2021 in “Fertility and Sterility” A blood test level of 3.2 ng/mL of Antimüllerian hormone is good for identifying polycystic ovarian morphology in European women aged 25–45.
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July 2018 in “International Journal of Molecular Sciences” Foxn1 is crucial for skin development and healing, and altering its expression may aid regenerative medicine.
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February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
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September 2018 in “Clinical Biochemistry” The document concludes that more research is needed to fully understand the causes of PCOS.
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March 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The Notch signaling pathway helps in mouse hair development through a noncanonical mechanism that does not rely on RBPj or transcription.
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May 2019 in “Human gene therapy” MC-DNA vector-based gene therapy can temporarily treat CBS deficiency in mice.
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July 2022 in “British Journal of Pharmacology” Blocking the mineralocorticoid receptor improves wound healing by reducing inflammation and promoting blood vessel growth.
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November 2016 in “Pediatric Clinics of North America” The document explains the difficulty in diagnosing and treating brain diseases caused by the immune system and stresses the need for quick and accurate tests.
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September 2025 in “Frontiers in Cardiovascular Medicine” Women with PCOS have a higher risk of heart disease.
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June 2023 in “European heart journal open” Women with irregular periods have a higher risk of heart disease.
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May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.