86 citations
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November 2015 in “Journal of Gastroenterology” The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.
36 citations
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August 2016 in “The Plant cell” A specific enzyme is crucial for the bean plant's relationship with certain beneficial soil bacteria and fungi.
12 citations
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June 2019 in “Psychoneuroendocrinology” Allopregnanolone is needed for certain brain processing issues caused by D1 dopamine receptor activation.
11 citations
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March 2020 in “American Journal of Medical Genetics Part A” A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
9 citations
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September 2023 in “Viruses” The XBB lineage of the Omicron variant spread rapidly in Southeastern Wisconsin.
May 2024 in “JAMA Dermatology” Oral contraceptive use may increase the risk of frontal fibrosing alopecia in women with a specific CYP1B1 gene variant.
September 2019 in “Journal of Investigative Dermatology” Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
13 citations
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June 2017 in “Biochimie open” All five human steroid 5α-reductase enzymes are found in the endoplasmic reticulum.
12 citations
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January 2022 in “The Egyptian Journal of Internal Medicine” Continued vaccine and drug development is crucial due to new virus variants and regional infection spikes.
March 2026 in “Journal of Investigative Dermatology” Genetic factors, especially PADI3 gene variants, contribute to CCCA in women of African descent.
38 citations
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September 2021 in “Signal Transduction and Targeted Therapy” Genetic differences affect COVID-19 severity and treatment development.
2 citations
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October 2018 in “The journal of pediatrics/The Journal of pediatrics” The document concludes that specific hair and blood vessel abnormalities in infants with seizures and developmental issues may indicate Menkes disease, which lacks a cure and is often fatal by age 3.
249 citations
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April 2002 in “The FASEB journal” Human skin can make serotonin and melatonin.
123 citations
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May 2020 in “Drug Development Research” Men's sensitivity to male hormones might affect how severe COVID-19 gets for them.
115 citations
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March 2019 in “Nature Communications” Frontal fibrosing alopecia is linked to four genetic areas, especially the HLA-B*07:02 allele.
21 citations
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May 2024 in “American Journal of Medical Genetics Part A” Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
11 citations
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February 2018 in “Archives of Pharmacal Research” Finasteride reduces melanin production, possibly treating hyperpigmentation and melanoma, but needs more safety research.
10 citations
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November 2018 in “Genetics in medicine” Lack of cystatin M/E causes thin hair and dry skin.
4 citations
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July 2024 in “Animals” The KRTAP19-5 gene affects wool curvature in Chinese Tan sheep, with Variant B reducing curvature.
November 2025 in “Clinical Cosmetic and Investigational Dermatology” LIPH mutations cause woolly hair in some Chinese people.
December 2023 in “Biointerface Research in Applied Chemistry” Stiripentol shows promise as a potential treatment for androgen-related diseases but needs more testing.
February 2022 in “International journal of KIU” Certain genes and nutrients like vitamin D, zinc, and omega fatty acids affect COVID-19 severity and infection risk.
20 citations
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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.
2 citations
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January 2021 in “Case reports in endocrinology” The girl's condition improved with treatment, showing no new autoimmune diseases and hair regrowth.
667 citations
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May 2008 in “Genes & Development” Histone demethylases can change gene expression and may be linked to diseases like cancer.
258 citations
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July 2016 in “Reproductive Biology and Endocrinology” The document concludes that insulin resistance is key in PCOS development and early treatment is crucial to prevent complications.
253 citations
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April 2014 in “Drugs” Teriflunomide helps reduce multiple sclerosis symptoms and is safe for most patients.
129 citations
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January 2019 in “Clinical medicine insights” Obesity worsens PCOS symptoms, and PCOS may lead to more weight gain; managing both requires a holistic approach that includes mental health.
121 citations
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November 2020 in “Endocrine” Male hormones like testosterone may make COVID-19 worse, and testing for sensitivity to these hormones could help predict how severe a patient's symptoms might be. Treatments that reduce these hormones are being explored.
103 citations
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October 2003 in “Birth Defects Research” Both genes and environmental factors like chemicals may contribute to the increase in hypospadias, but the exact causes are still unclear.