31 citations
,
January 2014 in “Clinical Endocrinology” The study suggests that being overweight or obese, not PCOS itself, is strongly linked to insulin resistance.
2 citations
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November 2019 in “Journal für Klinische Endokrinologie und Stoffwechsel” PCOS is a common hormonal disorder in women, treated with lifestyle changes and hormonal therapy.
58 citations
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April 1998 in “Journal of biological chemistry/The Journal of biological chemistry” CYP2B12 enzyme in skin cells converts arachidonic acid into specific bioactive lipids.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
January 2024 in “SAGE Open Medical Case Reports” The brothers have congenital ichthyosis, and the older brother's eye issues are due to different genetic mutations.
December 2023 in “Clinical Cosmetic and Investigational Dermatology” An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
A boy on a ketogenic diet and anti-epileptic drugs developed skin issues due to stopping vitamin supplements, which improved with proper supplementation.
Early diagnosis and lifelong zinc supplementation are crucial for treating acrodermatitis enteropathica effectively.
1 citations
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May 2009 in “Wiley-Blackwell eBooks” Early treatment of PCOS in teens is crucial to prevent long-term health issues like diabetes and heart disease.
12 citations
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January 2005 in “Pediatric Dermatology” Fox Fordyce disease might be more common in prepubertal girls than thought and can be managed with treatment.
21 citations
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April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
117 citations
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August 1999 in “Nature Genetics”
September 1997 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Alopecia patients have a less active liver monoxygenase system, which can be treated with photochemotherapy and system inducers.
The document's conclusion cannot be provided because the document is not available or cannot be read.
17 citations
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August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
3 citations
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June 2025 in “Drug Design Development and Therapy” Targeting glycolysis may help treat PCOS by improving insulin sensitivity and ovarian function.
59 citations
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May 2017 in “Scientific reports” ZDHHC13 is important for normal liver function and metabolism, affecting mitochondrial activity.
Defective nuclear transport may cause gene expression changes in Progeria.
5 citations
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January 2017 in “Arquivos Brasileiros de Oftalmologia” A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
5 citations
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January 2017 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” Porokeratotic eccrine and hair follicle nevus is a very rare skin disorder possibly caused by a GJB2 gene mutation.
May 2023 in “Zaporožskij Medicinskij Žurnal” Preventing childhood obesity can reduce the risk of developing polycystic ovary syndrome in adolescents.
September 2023 in “Reproductive health of woman” PCOS is common, affects fertility, and requires personalized treatment to manage symptoms and health risks.
June 2020 in “Journal of genetic medicine” The document's conclusion cannot be provided because the document is not accessible or understandable.
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
January 2018 in “Murdoch Research Repository (Murdoch University)” Improved genetic diagnosis of PCOS can lead to better patient outcomes.
Mutations in specific genes cause different types of ectodermal dysplasias.
11 citations
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April 2019 in “Bioscience Reports” Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
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.
Melanocytes can regenerate around hair follicles in bullous pemphigoid, especially in patients with darker skin.
September 2022 in “JAAD case reports” The man has a genetic skin condition called pachyonychia congenita.