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.
1 citations
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April 2016 in “British Journal of Dermatology” Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
November 2022 in “Journal of the Endocrine Society” The patient likely has Chrousos syndrome, a rare condition causing insensitivity to glucocorticoids, requiring high-dose dexamethasone treatment.
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
January 2026 in “Materials Today Bio” The hydrogel speeds up diabetic wound healing by reducing inflammation and promoting skin repair.
115 citations
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December 2019 in “The Plant Journal” Nitrate helps plants manage phosphate uptake and starvation responses through NIGT1 proteins.
26 citations
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April 2019 in “Genes” lncRNA XLOC_008679 and gene KRT35 affect cashmere fineness in goats.
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
December 2009 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Noggin promotes skin tumors by activating Wnt and Shh pathways.
17 citations
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August 2018 in “BMC Genomics” The HOXC13 gene affects different hair proteins in cashmere goats in varied ways and is controlled by a feedback loop and other factors.