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Open AccessClinical and genetic architecture of a large cohort with auditory neuropathy
Auditory neuropathy (AN) is a unique type of language developmental disorder, with no precise rate of genetic contribution that has been deciphered in a large cohort. In a retrospective cohort of 311 patients ...
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Dietary L-carnitine supplementation changes lipid metabolism and glucose utilization of Rhynchocypris lagowskii fed diets with different lipid sources
The widely available crop oil is an effective alternative to the increasingly scarce marine fish oil. However, simple alternative strategies have led to declining growth and the edible value of farmed fish. It...
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Open AccessGenetic correction of induced pluripotent stem cells from a DFNA36 patient results in morphologic and functional recovery of derived hair cell-like cells
TMC1 is one of the most common deafness genes causing DFNA36. Patient-derived human induced pluripotent stem cells (iPSCs) provide an opportunity to modelling diseases. TMC1 p.M418K mutation in human is orthologo...
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Open AccessA promising predictive biomarker combined EBV NDA with PNI for nasopharyngeal carcinoma in nonendemic area of China
In endemic areas, EBV DNA is used to guide diagnosis, detect recurrence and distant metastasis of NPC. Until now, the importance of EBV DNA in the prediction of NPC has received little attention in non-endemic...
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Open AccessImpaired AIF-CHCHD4 interaction and mitochondrial calcium overload contribute to auditory neuropathy spectrum disorder in patient-iPSC-derived neurons with AIFM1 variant
Auditory neuropathy spectrum disorder (ANSD) is a hearing impairment caused by dysfunction of inner hair cells, ribbon synapses, spiral ganglion neurons and/or the auditory nerve itself. Approximately 1/7000 n...
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Article
Rice straw biochar alters inorganic nitrogen availability in paddy soil mainly through abiotic processes
Nitrogen (N) is an important element for crop yield and its availability may be affected by biochar. The mechanisms through which biochar influences N availability and thus crop productivity remain largely unc...
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Effects of victim justice sensitivity on envy: The role of upward social comparison and perceived control
Victim justice sensitivity might be positively associated with envy; however, there is little understanding of the mechanism of this relationship. For the first time, we explored the effect of victim justice s...
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Article
SPK1/S1P axis confers gastrointestinal stromal tumors (GISTs) resistance of imatinib
Imatinib mesylate (IM) is highly effective in the treatment of gastrointestinal stromal tumors (GISTs). However, the most of GISTs patients develop secondary drug resistance after 1–3 years of IM treatment. Th...
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Comparative study of female Chinese mitten crabs based on their sizes and weights
The Chinese mitten crab (Eriocheir sinensis) is an important aquaculture species in China. While the price of a large crab will generally be 2–5 times higher than that of smaller crabs, it remains unknown whether...
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Article
The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study
Pathogenic variations in the OTOF gene are a common cause of hearing loss. To refine the natural history and genotype–phenotype correlations of OTOF-related auditory neuropathy spectrum disorders (ANSD), audiogra...
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Evaluating the probiotic potential and adhesion characteristics of Bacillus spp. isolated from the intestine of Rhynchocypris lagowskii Dybowski
Probiotics have been widely used in aquaculture worldwide especially in China as antibiotics have been banned in aquaculture. In the present study, 27 potential strains were isolated from Rhynchocypris lagowskii ...
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Article
Microbispora cellulosiformans sp. nov., a novel actinomycete with cellulase activity isolated from soil in the cold region
A novel cellulase-producing actinomycete strain Gxj-6T, isolated from soil in the cold region (Heihe city, Heilongjiang province, the northernmost part of China), subjected to a taxonomic study using a polyphasic...
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Open AccessConstruction of in situ degradation bacteria of corn straw and analysis of its degradation efficiency
The highly efficient degradation bacteria were selected from the humus from the very cold straw in China for many years to construct the in situ degradation bacteria, and the degradation efficiency of corn str...
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Identification of the Nrf2 in the fathead minnow muscle cell line: role for a regulation in response to H2O2 induced the oxidative stress in fish cell
The Nrf2 (nuclear factor erythroid 2-related factor 2) plays a central role in cell protection against a wide variety of environmental stressors through the Nrf2-Keap1 (Kelch-like ECH-associated protein 1) pathwa...
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Article
Tocilizumab treatment in Felty’s syndrome
Felty’s syndrome (FS) is a deforming disease, characterized by the triad of rheumatoid arthritis (RA), neutropenia, and splenomegaly. Currently, FS patients are treated mainly with immunosuppressants, such as ...
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Molecular genetic studies of familial Meniere’s disease
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Open AccessGenotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss
MYO15A variants are responsible for human non-syndromic autosomal recessive deafness (DFNB3). The majority of MYO15A variants are associated with a congenital severe-to-profound hearing loss phenotype, except for...
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Open AccessPhenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy
Mohr-Tranebjaerg syndrome (MTS) is a rare X-linked recessive neurodegenerative disorder resulting in early-onset hearing impairment, gradual dystonia and optic atrophy. MTS is caused by variations in the nucle...
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Hedgehog/GLI1 activation leads to leukemic transformation of myelodysplastic syndrome in vivo and GLI1 inhibition results in antitumor activity
Myelodysplastic syndromes (MDSs) are stem cell disorders with risk of transformation to acute myeloid leukemia (AML). Gene expression profiling reveals transcriptional expression of GLI1, of Hedgehog (Hh) signali...
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Open AccessAstragalus membranaceus (Fisch.) Bunge repairs intestinal mucosal injury induced by LPS in mice
Astragalus membranaceus (Fisch.) Bunge is one of the most widely used traditional Chinese herbal medicines. It is used as immune stimulant, tonic, antioxidant, hepatoprotectant, diuretic, antidiabetic, anticancer...