12 Result(s)
within
Human Genetics
**-yuan Niu
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Article
Open AccessGenome assemblies of 11 bamboo species highlight diversification induced by dynamic subgenome dominance
Polyploidy (genome duplication) is a pivotal force in evolution. However, the interactions between parental genomes in a polyploid nucleus, frequently involving subgenome dominance, are poorly understood. Here...
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Article
Open AccessHearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy
Studies suggest that enzyme-replacement therapy (ERT) is crucial to the survival of patients with infantile-onset Pompe disease (IOPD). Hearing impairment (HI) is one of the clinical sequelae observed in long-...
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Article
SNP rs12794714 of CYP2R1 is associated with serum vitamin D levels and recurrent spontaneous abortion (RSA): a case–control study
Vitamin D (VD) deficiency seems to be associated with the risk of recurrent spontaneous abortion (RSA). Vitamin D receptor (VDR) and cytochrome P450 family 2 subfamily R member 1 (CYP2R1) are two genes which a...
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Article
Open AccessAudiological and otologic manifestations of glutaric aciduria type I
Glutaric aciduria type 1 (GA-1) is a rare disease connected with speech delay and neurological deficits. However, the audiological and otologic profiles of GA-1 have not yet been fully characterized. To our kn...
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Article
S100A14 suppresses metastasis of nasopharyngeal carcinoma by inhibition of NF-kB signaling through degradation of IRAK1
Nasopharyngeal carcinoma (NPC) is a unique head and neck cancer with highly aggressive and metastatic potential in which distant metastasis is the main reason for treatment failure. Till present, the underlyin...
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Article
Interleukin-26 upregulates interleukin-22 production by human CD4+ T cells in tuberculous pleurisy
IL-26 is a potentially important player in host defense and may be a pathogenic factor in the chronic inflammatory disorders of humans. However, the involvement of IL-26 in tuberculous pleural effusion (TPE) h...
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Article
Mechanism of Lycium barbarum polysaccharides on primary cultured rat hippocampal neurons
Lycium barbarum polysaccharides (LBP) have been reported to have a wide range of beneficial effects including neuroprotection, anti-aging and anticancer. However, the anti-inflammation me...
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Article
Two Frequent Mutations Associated with the Classic Form of Propionic Acidemia in Taiwan
Propionyl-CoA carboxylase (PCC) is involved in the catabolism of branched chain amino acids, odd-numbered fatty acids, cholesterol, and other metabolites. PCC consists of two subunits, α and β, encoded by the PCC...
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Article
Open AccessNatural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA
Mucopolysaccharidosis IVA (MPS IVA) is a rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase deficiency, which catalyzes a step in the catabolism of glycosaminoglycans, keratan sulfate and...
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Article
Open AccessObligate mutualism within a host drives the extreme specialization of a fig wasp genome
Fig pollinating wasps form obligate symbioses with their fig hosts. This mutualism arose approximately 75 million years ago. Unlike many other intimate symbioses, which involve vertical transmission of symbion...
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Article
Erratum to: Enzyme replacement therapy for mucopolysaccharidosis VI—experience in Taiwan
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Article
Enzyme replacement therapy for mucopolysaccharidosis VI—experience in Taiwan
Information regarding the clinical outcome of enzyme replacement therapy (ERT) with recombinant human N-acetylgalactosamine 4-sulfatase (rhASB) for mucopolysaccharidosis (MPS) VI in Asian patients is limited. We ...
