30 citations
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June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
5 citations
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June 2020 in “Experimental dermatology” Redheaded people may have evolved to efficiently make vitamin D in areas with less sunlight.
December 2023 in “JCEM case reports” A new gene variant causes glucocorticoid resistance in a mother and son.
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April 2020 in “American Journal of Case Reports” A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
44 citations
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January 2017 in “Journal of Investigative Dermatology” Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
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.
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November 2007 in “Blood” TMPRSS6 is crucial for controlling hepcidin and normal iron absorption.
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December 2019 in “Molecular genetics and metabolism reports” Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
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November 1991 in “PubMed” Immunoadsorption successfully treated a man's resistant polymyositis.
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January 2012 in “Chinese Medicine” Urtica dioica (stinging nettle) is a potential natural antioxidant for medicinal and cosmetic use.
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June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
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December 2009 in “Organic and Biomolecular Chemistry” Mercuric triflate is an effective catalyst for various organic reactions, working well at room temperature with high yields.
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January 2020 in “Acta Dermato Venereologica” Netherton Syndrome can cause severe skin lesions in rare cases.
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May 2019 in “Drugs” Cannabinoids may help treat chronic and chemotherapy-induced neuropathic pain, but more research is needed to confirm their effectiveness and safety.
April 2026 in “Ankara Üniversitesi Veteriner Fakültesi Dergisi” Mueller-Hinton Agar is better for testing antifungal susceptibility in Microsporum canis and Nannizzia gypsea.
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August 2010 in “Pharmacology & therapeutics” Formyl-peptide receptor agonists could be new anti-inflammatory drugs.
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March 2018 in “Trends in Plant Science” pH, calcium, and reactive oxygen species regulate plant cell growth, with key roles for NADPH oxidases and plasma membrane H+-ATPases.
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September 2021 in “Journal of molecular endocrinology” ERβ has potential in treating prostate cancer and neurodegenerative diseases, but human studies are needed before clinical use.
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January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
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.
September 2020 in “arXiv (Cornell University)” Some existing drugs and natural products might work against COVID-19 by targeting the virus's main protease.
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February 2018 in “Journal of basic and clinical physiology and pharmacology/Journal of basic & clinical physiology & pharmacology” *Acorus calamus* has many medicinal benefits but needs more safety research.
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March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
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February 2021 in “Plant journal” OsUEV1B protein is essential for controlling phosphate levels in rice.
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March 2018 in “Frontiers in Immunology” The document concludes that anti-dsDNA antibodies are not unique to SLE and their use as indicators is doubtful, highlighting the need for better understanding and classification of the disease.
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December 2017 in “Molecular therapy” Enzyme replacement therapy improved multiple symptoms of homocystinuria in mice.
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June 2019 in “Endocrine Related Cancer” Mutations in certain receptors can cause diseases and offer new treatment options.
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January 2000 in “Hormone Research in Paediatrics” Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.
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September 2010 in “The American journal of pathology” High glucocorticoids cause pancreatic malfunction and malabsorption, reversible with enzyme supplements.