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Article
Open AccessNovel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms
Branchio-oto-renal syndrome (BOR, OMIM#113,650) is a rare autosomal dominant disorder that presents with a variety of symptoms, including hearing loss (sensorineural, conductive, or mixed), structural abnormal...
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Article
Open AccessCrosstalk between colorectal CSCs and immune cells in tumorigenesis, and strategies for targeting colorectal CSCs
Cancer immunotherapy has emerged as a promising strategy in the treatment of colorectal cancer, and relapse after tumor immunotherapy has attracted increasing attention. Cancer stem cells (CSCs), a small subse...
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Article
Open AccessNovel compound heterozygous pathogenic variants in the SLC3A1 gene in a Chinese family with cystinuria
Cystinuria is an autosomal recessive disorder characterized by a cystine transport deficiency in the renal tubules due to mutations in two genes: SLC3A1 and SLC7A9. Cystinuria can be classified into three forms b...
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Article
Open AccessPhenotypic variability in two female siblings with oocyte maturation arrest due to a TUBB8 variant
Tubulin beta-8 (TUBB8) is expressed exclusively in the oocyte and early embryo, encoding a beta-tubulin polypeptide that participates in the assembly of microtubules. TUBB8 was first attributed to being responsib...
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Article
Open AccessA likely pathogenic POLD1 variant associated with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome in a Chinese patient
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL; OMIM# 615381) is a rare autosomal dominant disorder, with only a few reported cases worldwide. Herein, we describe the cli...
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Article
Open AccessDetection and clinical significance of circulating tumor cells in colorectal cancer
Histopathological examination (biopsy) is the “gold standard” for the diagnosis of colorectal cancer (CRC). However, biopsy is an invasive method, and due to the temporal and spatial heterogeneity of the tumor...
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Article
Open AccessAn accessible insight into genetic findings for transplantation recipients with suspected genetic kidney disease
Determining the etiology of end-stage renal disease (ESRD) constitutes a great challenge in the context of renal transplantation. Evidence is lacking on the genetic findings for adult renal transplant recipien...
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Article
Open AccessDynamics of binding ability prediction between spike protein and human ACE2 reveals the adaptive strategy of SARS-CoV-2 in humans
SARS-CoV-2 (severe acute respiratory syndrome coronavirus 2) is a novel coronavirus causing the COVID-19 pandemic in 2020. High adaptive plasticity on the spike protein of SASR-CoV-2 enables it to transmit acr...
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Article
Open AccessMulti-faceted epigenetic dysregulation of gene expression promotes esophageal squamous cell carcinoma
Epigenetic landscapes can shape physiologic and disease phenotypes. We used integrative, high resolution multi-omics methods to delineate the methylome landscape and characterize the oncogenic drivers of esoph...
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Article
Open AccessRoles of HMGB1 in regulating myeloid-derived suppressor cells in the tumor microenvironment
Myeloid-derived suppressor cells (MDSCs) are notable contributors to the immunosuppressive tumor microenvironment (TME) and are closely associated with tumor progression; in addition, MDSCs are present in most...
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Article
Open AccessMyeloid-derived suppressor cells—new and exciting players in lung cancer
Lung cancer (LC) is the leading cause of cancer-related death worldwide due to its late diagnosis and poor outcomes. As has been found for other types of tumors, there is increasing evidence that myeloid-deriv...
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Article
Thermal Analysis of a Volumetric Solar Receiver
The volumetric receiver has received wide attention due to its high thermal efficiency. This paper studied a new type of a solid-liquid composite volumetric receiver. The heat transfer in a solid-liquid compos...
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Article
Open AccessInhibition of cyclooxygenase-2 by NS398 attenuates noise-induced hearing loss in mice
Noise-induced hearing loss (NIHL) is an important occupational disorder. However, the molecular mechanisms underlying NIHL have not been fully clarified; therefore, the condition lacks effective therapeutic me...
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Article
Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31
Mutations in the genes coding for connexin 26 (Cx26) and connexin 31 (Cx31) cause non-syndromic deafness. Here, we provide evidence that mutations at these two connexin genes can interact to cause hearing loss...
