A Novel Missense Mutation in the FGF3 Gene of a Chinese Patient with LAMM Syndrome.

Labyrinthine aplasia, type I microtia and microdontia (LAMM) syndrome, a rare autosomal recessive disease, is characterized by labyrinthine aplasia, microtia, and microdontia initially described in 2007 by Tekin. It is evident that the syndrome is associated with FGF3, and several mutations within the FGF3 gene have been reported in individuals with LAMM syndrome. We have identified a novel mutation (c.

Zebrafish Affects Rod Cell Phototransduction Through Regulating Ca Transport and MAPK Signaling Pathway.

Mutations in the pathogenic gene are known to cause Usher syndrome, affecting both auditory and visual functions. Our previous results provided valuable insights into the mechanisms underlying congenital hearing loss associated with mutations. However, the molecular mechanisms and signaling pathways that influence vision remain largely unknown.

Using T7 endonuclease I to detect SLC26A4 mutations in children with large vestibular aqueduct syndrome, with or without Mondini malformation and assess cochlear implant outcomes.

Objective: To analyze SLC26A4 gene mutations in children with large vestibular aqueduct syndrome (LVAS) with or without Mondini malformation, and to compare their hearing phenotypes, rehabilitation outcomes, and learning performance after cochlear implantation.

Methods: We used T7 Endonuclease I enzyme digestion to detect SLC26A4 mutations in 48 children with LVAS without Mondini malformation (EVA group), 29 children with LVAS and Mondini malformation (EVA + MD group). Negative results were confirmed by Sanger sequencing.

Revealing the role of cancer-associated fibroblast senescence in prognosis and immune landscape in pancreatic cancer.

Cancer-associated fibroblasts (CAFs) represent a major contributor to tumor growth. Cellular senescence is a state of cell-cycle arrest characterized by a pro-inflammatory phenotype. The potential impact of CAF senescence on tumor progression and the tumor microenvironment (TME) remains to be elucidated.

CD69 Expression is Negatively Associated With T-Cell Immunity and Predicts Antiviral Therapy Response in Chronic Hepatitis B.

Background: The function of CD69 expressed on T cells in chronic hepatitis B (CHB) remains unclear. We aimed to elucidate the roles of CD69 on T cells in the disease process and in antiviral therapy for CHB.

Methods: We enrolled 335 treatment-naive patients with CHB and 93 patients with CHB on antiviral therapy.

Gα13 controls pharyngeal endoderm convergence by regulating E-cadherin expression and RhoA activation.

Pharyngeal endoderm cells undergo convergence and extension (C&E), which is essential for endoderm pouch formation and craniofacial development. Our previous work implicates Gα13/RhoA-mediated signaling in regulating this process, but the underlying mechanisms remain unclear. Here, we have used endoderm-specific transgenic and Gα13 mutant zebrafish to demonstrate that Gα13 plays a crucial role in pharyngeal endoderm C&E by regulating RhoA activation and E-cadherin expression.

Zebrafish regulates lipid homeostasis via the RA signaling pathway.

Background: The gene has been implicated in human central obesity, fasting insulin levels, type 2 diabetes, and blood lipid profiles. However, its molecular mechanisms remain largely unexplored.

Methods: In this study, we established mutant lines using the CRISPR/Cas9-mediated gene knockout technique.

Comprehensive Analysis of Sideroflexin 4 in Hepatocellular Carcinoma by Bioinformatics and Experiments.

Sideroflexins (SFXNs) are a family of highly conserved mitochondrial transporters which regulate iron homeostasis and mitochondrial respiratory chain. However, the roles and mechanisms of SFXNs in HCC remain unknown. SFXNs expression and prognostic value in HCC was comprehensively analyzed.

cdh23 affects congenital hearing loss through regulating purine metabolism.

Introduction: The pathogenic gene plays a pivotal role in tip links, which is indispensable for mechanoelectrical transduction in the hair cells. However, the underlying molecular mechanism and signal regulatory networks that influence deafness is still largely unknown.

Methods: In this study, a congenital deafness family, whole exome sequencing revealed a new mutation in the pathogenic gene , subsequently; the mutation has been validated using Sanger sequencing method.

Simultaneous detection of enterovirus-D68 and vaccine-related poliovirus 3 in the stool samples of a 5-month hospitalized child with acute respiratory disease: A case report.

Human enterovirus (EV) infections can lead to various manifestations, with variable correlations between genotypes and symptoms. Human enterovirus D68 (EV-D68) was considered to be associated with acute respiratory disease and acute flaccid myelitis. In this short report, both EV-D68 and poliovirus 3 were detected in the stool of a hospitalized 5-month child who presented with acute respiratory symptoms and who was recently vaccinated with oral polio vaccine (OPV), using a metatranscriptomic high-throughput sequencing method.

MTAP-ANRIL gene fusion promotes melanoma epithelial-mesenchymal transition-like process by activating the JNK and p38 signaling pathways.

Gene fusions caused by cytogenetic aberrations play important roles in the initiation and progression of cancers. The recurrent MTAP-ANRIL fusion gene was reported to have a frequency of greater than 7% in melanoma in our previous study. However, its functions remain unclear.

Transcriptomics and Phenotypic Analysis of Knockout in Zebrafish.

The adhesion G-protein-coupled receptor is a seven-transmembrane receptor protein with a complex structure. Impaired has been found to cause developmental damage to the human brain, resulting in intellectual disability and motor dysfunction. To date, studies on deficiency in zebrafish have been limited to the nervous system, and there have been no reports of its systemic effects on juvenile fish at developmental stages.

Seroprevalence of human enterovirus A71 in Guangzhou, China, 2019-2021.

Enterovirus A71 (EV-A71) is a significant hand-foot-mouth disease (HFMD) etiology. The inactivated EV-A71 vaccines were approved in China in 2016. However, the seroprevalence of EV-A71 after the vaccine application and its potential association with the EV-A71 epidemic in the population are rarely studied.

Roles of miR-196a and miR-196b in Zebrafish Motor Function.

Background: The exertion of motor function depends on various tissues, such as bones and muscles. miR-196 has been widely studied in cancer and other fields, but its effect on bone and skeletal muscle is rarely reported. In order to explore the role of miR-196 family in bone and skeletal muscle, we used the previously successfully constructed miR-196a-1 and miR-196b gene knockout zebrafish animal models for research.

Screening and Mechanism of Novel Angiotensin-I-Converting Enzyme Inhibitory Peptides in Seed Meal: A Computer-Assisted Experimental Study Method.

Angiotensin-I-converting enzyme (ACE) inhibitors are used extensively to control hypertension. In this study, a computer-assisted experimental approach was used to screen ACE-inhibiting peptides from seed meal (XSM). The process conditions for XSM hydrolysis were optimized through the orthogonal experimental method combined with a database.

Soybean protein isolate treated with transglutaminase (TGase) enhances the heat tolerance of selected lactic acid bacteria strains to spray drying.

TGase treated soy protein isolate (SPI) was confirmed to improve the survival of Lb. bulgaricus CICC 6047 subjected to spray drying. The viability of this strain increased from 70.

A Serotype-Specific and Multiplex PCR Method for Whole-Genome Sequencing of Dengue Virus Directly from Clinical Samples.

Dengue virus (DENV) is the most globally prevalent member of the genus in the family , which can be classified into four serotypes. Historically, molecular epidemiological studies of DENV depended on E gene sequencing. The development of next-generation sequencing (NGS) allowed its application to viral whole-genome sequencing (WGS).

Fibronectin and Integrin α5 play overlapping and independent roles in regulating the development of pharyngeal endoderm and cartilage.

Craniofacial skeletal elements are derived from cranial neural crest cells (CNCCs), which migrate along discrete paths and populate distinct pharyngeal arches, structures that are separated by the neighboring endodermal pouches (EPs). Interactions between the CNCCs and the endoderm are critical for proper craniofacial development. In zebrafish, integrin α5 (Itga5) functions in the endoderm to regulate formation of specifically the first EP (EP1) and the development of the hyoid cartilage.

Clinical benefit of tunnel endoscopic submucosal dissection for esophageal squamous cancer: a multicenter, randomized controlled trial.

Background And Aims: Endoscopic submucosal dissection (ESD) is widely accepted as a primary treatment modality for dysplastic and early cancerous lesions of the GI tract. However, prolonged procedure time and life-threatening adverse events remain obstacles to the successful treatment of esophageal cancer. This study aimed to compare the efficacy and safety of tunnel ESD (T-ESD) with conventional ESD (C-ESD) for superficial esophageal squamous neoplasms.

Contact tracing period and epidemiological characteristics of an outbreak of the SARS-CoV-2 Delta variant in Guangzhou.

Objectives: An outbreak of the SARS-CoV-2 Delta variant occurred in Guangzhou in 2021. This study aimed to identify the transmission dynamics and epidemiological characteristics of the Delta variant outbreak to formulate an effective prevention strategy.

Methods: A total of 13102 close contacts and 69 index cases were collected.

The Rise in Norovirus-Related Acute Gastroenteritis During the Fight Against the COVID-19 Pandemic in Southern China.

There has been a significant decline in the morbidity of almost all infectious diseases during the COVID-19 pandemic. However, while the incidence of norovirus-related acute gastroenteritis declined in Guangzhou, China during the initial period of the pandemic, incidence increased significantly once the new school year began in September 2020. Norovirus-related acute gastroenteritis clusters and outbreaks were assessed in Guangzhou from 2015 to 2020.

Fabrication and Characterization of Gel Beads of Whey Isolate Protein-Pectin Complex for Loading Quercetin and Their Digestion Release.

In this study, emulsion gel beads for loading quercetin were prepared through an emulsification/gelation process using whey protein isolate (WPI) and pectin. Emulsion gel beads' properties were investigated by different pectin content. Additionally, the physicochemical properties, morphology and quercetin release properties from beads were explored.