59 citations
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September 2021 in “Journal of Allergy and Clinical Immunology” Netherton syndrome has two subtypes with shared immune traits but different allergic and immune responses, suggesting targeted treatments.
39 citations
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August 1998 in “FEBS Letters” Two new enzymes, PAD-R11 and PAD-R4, were cloned and showed activity, with PAD-R11 resembling epidermal enzymes.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
4 citations
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January 1993 in “Clinical Chemistry and Laboratory Medicine (CCLM)” The new method is 1000 times more sensitive for measuring hair growth.
May 2025 in “International Journal of Trichology” Oral Acitretin effectively resolved symptoms in a child with Netherton syndrome.
19 citations
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November 1971 in “Clinica Chimica Acta” The document concludes that measuring γ-glutamyl transpeptidase activity is more accurate with a higher substrate concentration and using diluted acetic acid to stop the reaction.
May 2024 in “Physiologia Plantarum” Bacillus subtilis helps plants get more phosphorus and grow better roots.
April 2018 in “Journal of Investigative Dermatology” Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.
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January 2021 in “Journal of Pharmaceutical Investigation”
5 citations
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January 2018 The conclusion is that a new test was created to find substances that affect specific ion channels, and it works well for drug discovery.
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October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
65 citations
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February 2018 in “The Plant Journal” PLDζ2 and NPC4 have different roles in lipid changes and root hair growth in Arabidopsis under low phosphate, with PLDζ2 reducing root hair growth and NPC4 promoting it.
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January 1977 in “Advances in experimental medicine and biology” Hair follicles have an enzyme that converts arginine to citrulline in proteins.
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September 2008 in “Current Pharmaceutical Design” Allergic reactions to blood thinners are rare but can be serious, requiring careful management and alternative treatments.
60 citations
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March 2006 in “Journal of Medical Genetics” A mutation in the KRTHB5 gene causes hair and nail issues.
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June 1989 in “Steroids” Researchers successfully made new compounds for hormone level tests, but one attempt led to an unexpected product, correcting a past error.
79 citations
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March 2005 in “Journal of Medical Genetics” A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
5 citations
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February 1997 in “Bioorganic & Medicinal Chemistry” New compounds were made that effectively block a specific enzyme related to androgen conditions.
19 citations
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February 2001 in “Journal of paediatrics and child health” A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
12 citations
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January 2018 in “Journal of Drug Delivery Science and Technology” The new particle system could be a promising treatment for diseases related to the 5-α reductase enzyme.
2-Hydroxy-1,4-naphthoquinone is a strong 5α-reductase inhibitor.
January 2009 in “ScholarlyCommons (University of Pennsylvania)” The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
10 citations
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September 2015 in “PLoS ONE” New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
11 citations
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June 2013 in “Journal of Chemical Education” Minoxidil detects nitrite in water, creating a simple, cheap test.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” The DNMT3B -579G>T polymorphism may increase the risk of colorectal cancer.
32 citations
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January 2000 in “Human Heredity” Monilethrix severity varies and may be influenced by other genetic or environmental factors.
Defective nuclear transport may cause gene expression changes in Progeria.
1 citations
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January 2003 in “Chinese Journal of Pharmaceuticals” A new method to make Finasteride is more cost-effective and yields 16%.
March 2023 in “Reactions Weekly” January 2023 in “Reactions Weekly”