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Article
A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia
We report the first identified mutation in the gene encoding human cytochrome c (CYCS). Glycine 41, invariant throughout eukaryotes, is substituted by serine in a family with autosomal dominant thrombocytopenia c...
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Protocol
Approaches for Classifying DNA Variants Found by Sanger Sequencing in a Medical Genetics Laboratory
Diagnostic applications of DNA sequencing technologies present a powerful tool for the clinical management of patients. Applications range from better diagnostic classification to identification of therapeutic...
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Article
Open AccessThe severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6
Hereditary porphyrias are caused by mutations in genes that encode haem biosynthetic enzymes with resultant buildup of cytotoxic metabolic porphyrin intermediates. A long-standing open question is why the same...
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Article
Open AccessFactors influencing recruitment and retention of male nurses in Macau and mainland China: a collaborative, qualitative study
Macau and the Mainland China have different political and socio-economic policies but are both influenced by Chinese culture. By comparing the professional development experiences of male nurses from Macau and...
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Article
Open Access“I am called girl, but that doesn’t matter” -perspectives of male nurses regarding gender-related advantages and disadvantages in professional development
Exploration of professional development experiences of male nurses can help develop evidence-based strategies to attract males into nursing. The study aims to investigate the advantages and disadvantages of be...
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Article
A Case of VEXAS Syndrome Complicated by Hemophagocytic Lymphohistiocytosis
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Article
Open AccessThe chromatin remodeller ATRX facilitates diverse nuclear processes, in a stochastic manner, in both heterochromatin and euchromatin
The chromatin remodeller ATRX interacts with the histone chaperone DAXX to deposit the histone variant H3.3 at sites of nucleosome turnover. ATRX is known to bind repetitive, heterochromatic regions of the gen...
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Article
Open AccessGender similarities and differences in the perception of caring among nurses during the COVID-19 pandemic: a mixed-methods study
Caring is the essence and core of nursing. Current studies on the effect of gender on nurses’ perception of caring have been inconsistent. Most of these studies were quantitative and conducted before the COVID...
