Search Results - Xiaodong Zhao
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Primary squamous cell carcinoma of the breast: A case report
Published 2025-07-01 Get full text
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Association between NOS3 polymorphisms and osteonecrosis of the femoral head
Published 2019-12-01Get full textPurpose This study aimed to detect the association between nitric oxide synthase 3 (NOS3) gene polymorphisms (rs1799983 and rs3918181) and the susceptibility to osteonecrosis of the femoral head (ONFH).Methods Total 88 ONFH patients (55 non-traumatic ONFH and 33 traumatic ONFH) and 90 healthy contro...
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Case Report: Heterozygous out-of-frame frameshift variant in ELANE without evidence of neutropenia
Published 2025-07-01Get full textMutations in the ELANE gene, which encodes neutrophil elastase, are known to cause cyclic neutropenia (CyN) and severe congenital neutropenia (SCN). Currently, targeting ELANE for insertion-deletion to trigger nonsense-mediated mRNA decay (NMD) may be a simple and universal method to treat SCN cause...
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Clinical relevance of loss-of-function mutations of NEMO/IKBKG
Published 2025-09-01Get full textDysfunctional inhibitor of nuclear factor-κB (NF-κB) kinase regulatory subunit gamma (IKBKG) is known to trigger incontinentia pigmenti (IP), anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID), immunodeficiency (ID), and IKBKG deleted exon 5 autoinflammatory syndrome (NDAS). The correlat...
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