De Novo Missense Mutation in FREM1 Identified in a Chinese Patient with Comorbid Congenital Microtia and Pulmonary Hypoplasia.

Cases of microtia combined with pulmonary hypoplasia are occasionally in clinics, and its genetic etiology has so far proved inconclusive. Here, aiming to contribute to a better understanding of microtia-related comorbid respiratory anomalies, the authors provide a clinical and genetic description of a rare trio family of which the son suffers combined deformities of right microtia, left pulmonary hypoplasia, and dextrocardia using whole-genome sequence (WGS). A novel potential pathologic compound heterozygosity in the FREM1 gene was identified and validated by the trio and bioinformatics analysis.

A novel mutation in the BTB domain impairs transcriptional repression function of KCTD1 leading to syndromic microtia.

Microtia is a common birth defect affecting the external ears and encompasses a spectrum of congenital anomalies of the auricle. For some of the microtia-associated syndromes, the additional abnormalities are not easily observed or with variable expressivity. Identifying pathogenic mutations through genetic testing is of great help in recognizing these highly heterogeneous syndromes in clinical practice.

Corrigendum: Novel FOXL2 variants in two Chinese families with blepharophimosis, ptosis, and epicanthus inversus syndrome.

[This corrects the article DOI: 10.3389/fgene.2024.

The effect of perceived stress on binge eating behavior among Chinese university students: a moderated mediation model.

Introduction: Previous studies have demonstrated a strong link between perceived stress and binge eating behavior, but the psychological mechanisms underlying such phenomenon are not fully understood. The present study further addressed this issue in a life history framework, focusing on life history strategy and distress tolerance.

Methods: Firstly, we investigated the mediation role of life history strategy on the relationship between perceived stress and binge eating behavior.

The pathogenic mechanism of syndactyly type V identified in a Hoxd13Q50R knock-in mice.

Syndactyly type V (SDTY5) is an autosomal dominant extremity malformation characterized by fusion of the fourth and fifth metacarpals. In the previous publication, we first identified a heterozygous missense mutation Q50R in homeobox domain (HD) of HOXD13 in a large Chinese family with SDTY5. In order to substantiate the pathogenicity of the variant and elucidate the underlying pathogenic mechanism causing limb malformation, transcription-activator-like effector nucleases (TALEN) was employed to generate a Hoxd13Q50R mutant mouse.

Novel variants in two Chinese families with blepharophimosis, ptosis, and epicanthus inversus syndrome.

Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a rare inherited disorder. This study was aimed to identify and functionally validate variants in two Chinese families with BPES. The proband and his family members were subjected to whole-exome sequencing to identify disease-associated variants.

The effect of gender in binge eating behavior in Chinese culture: the serial mediation model of body dissatisfaction and self-acceptance.

Introduction: The gender difference of binge eating behavior been highlighted by previous studies. However, psychological mechanisms underlying the gender difference of binge eating behavior remain unclear. This study addressed this issue from a sociocultural perspective.

The effect of mindfulness on social media addiction among Chinese college students: A serial mediation model.

Introduction: The COVID-19 pandemic has exacerbated social media addiction (SMA), making it urgent to find effective interventions for social media addiction. Evidence has shown that mindfulness might be an effective intervention for social media addiction. However, psychological mechanisms by which mindfulness reduce social media use remain unclear.

Discovery and Biosynthesis of the Amodesmycins, Aromatic Polyketide-Siderophore Hybrid Conjugates.

A type II polyketide synthase biosynthetic gene cluster () containing three P450 genes was identified from a soil metagenomic library, and novel benz[]isoquinoline-desferrioxamine B conjugated compound amodesmycins were isolated from J1074 harboring the gene cluster. Genetic evidence showed that the benz[]isoquinoline part and desferrioxamine B part in amodesmycins were derived from the gene cluster and J1074, respectively, while P450 enzymes played critical roles in the conjunction of these two parts.

Bacillus amyloliquefaciens SC06 attenuated high-fat diet induced anxiety-like behavior and social withdrawal of male mice by improving antioxidant capacity, intestinal barrier function and modulating intestinal dysbiosis.

Anxiety-like behavior and social withdrawal induced by obesity and oxidative stress are significant health concerns in contemporary society. Our previously study found that Bacillus amyloliquefaciens SC06 (SC06) decreased the body weight of high-fat diet (HFD)-fed male mice and protected porcine intestinal epithelial cells against oxidative stress. The present study further investigated the effect of SC06 on HFD-induced obesity, anxiety-like behavior and social withdrawal of male mice and explored its mechanism.

Functional Pathway and Process Enrichment Analysis of Genes Associated With Morphological Abnormalities of the Outer Ear.

Congenital anomalies of the outer ear are common birth defects, including a variety of congenital deformities or malformations ranging from mild structural anomalies to total absence of the ear. Despite its high incidence and detrimental impact on patients, the etiology of outer ear abnormalities remains poorly understood. The goal of this study was to summarize the related genes and improve our understanding of the genetic etiology of morphological abnormalities of the outer ear.

Effect of Self-Efficacy on Bedtime Procrastination Among Chinese University Students: A Moderation and Mediation Model.

Bedtime procrastination (BP) is generally considered to be a maladaptive behavior. However, BP may be an adaptive fast LH strategy within the LH framework, and further, personal beliefs about their abilities and resources promote this fast LH strategy. Here, the present study addressed this idea, focusing on the effect of self-efficacy on BP, the mediation of harm avoidance (HA), and the moderation of novelty seeking (NS).

Generation of an induced pluripotent stem cell line from a congenital microtia patient with 4p16.1 microduplication involving the long-range enhancer of HMX1.

Congenital microtia is a malformation of the middle and external ear. Duplications involving the ECR, an ear-specific long-range enhancer of HMX1, lead to ear malformation in different species. Use of electroporation of episomal plasmids encodes OCT4, SOX2, NANOG, LIN28, KLF4, and LMYC into peripheral blood mononuclear cells (PBMCs), we generated an induced pluripotent stem cell (iPSCs) line of a microtia patient carrying the duplication involving ECR.

Salumycin, a New Pyrazolequinone from a J1074 Mutant Strain.

Heterocyclic natural products with various bioactivities play significant roles in pharmaceuticals. Here, we isolated a heterocyclic compound salumycin () from a J1074 mutant strain. The structure of () was elucidated via single-crystal X-ray diffraction, mass spectrometry (MS), fourier transform infrared spectrometer (FTIR), and nuclear magnetic resonance (NMR) data analysis.

Identification of loss-of-function HOXA2 mutations in Chinese families with dominant bilateral microtia.

HOX genes are important regulatory genes patterning head formation, including development of the ear. Microtia is a congenital ear anomaly characterized by lacking all or part of the structures of the outer ear. To date, only four HOXA2 mutations were reported in families with autosomal-recessive or dominant microtia, with or without hearing impairment.

Duplications involving the long range HMX1 enhancer are associated with human isolated bilateral concha-type microtia.

Background: Microtia is a congenital anomaly of ear that ranges in severity from mild structural abnormalities to complete absence of the outer ears. Concha-type microtia is considered to be a mild form. The H6 family homeobox 1 transcription factor gene (HMX1) plays an important role in craniofacial structures development.

Stigma Among Chinese Medical Students Toward Individuals With Mental Illness.

The current study aimed to examine medical students' attitudes toward individuals with mental illness. Stratified cluster sampling was used to survey 735 Chinese medical students from three medical universities in Shandong, China. Participants completed the Perceived Devaluation and Discrimination Scale (PDD).

Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease.

Marfan syndrome (MFS) is a systemic connective tissue disease principally affecting the ocular, skeletal and cardiovascular systems. This autosomal dominant disorder carries a prevalence of 1:3,000 to 1:5,000. This study aims to define the mutational spectrum of MFS related genes in Chinese patients and to establish genotype-phenotype correlations in MFS.

A 105 kb interstitial insertion in the Xq27.1 palindrome from pseudoautosomal region PAR1 causes a novel X-linked recessive compound phenotype.

Background: Genomic disorders present a wide spectrum of unrelated clinical entities that result from genomic rearrangements. Interstitial insertions requiring three points of breakage are rare genomic rearrangement events. The pseudoautosomal region PAR1, homologous between the Xp22 and Yp11 loci, has a high crossover and recombination rate.

Enhancement of Aggression Induced by Isolation Rearing is Associated with a Lack of Central Serotonin.

Isolation rearing (IR) enhances aggressive behavior, and the central serotonin (5-hydroxytryptamine, 5-HT) system has been linked to IR-induced aggression. However, whether the alteration of central serotonin is the cause or consequence of enhanced aggression is still unknown. In the present study, using mice deficient in central serotonin Tph2 and Lmx1b, we examined the association between central serotonin and aggression with or without social isolation.

A novel MAF missense mutation leads to congenital nuclear cataract by impacting the transactivation of crystallin and noncrystallin genes.

The transcription factor v-maf avain musculoaponeurotic fibrosarcoma oncogene homolog (MAF) plays an important role in lens development. It contains a unique extended homology region (EHR) in the DNA binding domain. MAF mutations are associated with phenotypically distinct forms of congenital cataract and show different effects on the transactivation of target genes.

TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model.

Purpose: To characterize clinically measurable endophenotypes, implicating the TBX6 compound inheritance model.

Methods: Patients with congenital scoliosis (CS) from China(N = 345, cohort 1), Japan (N = 142, cohort 2), and the United States (N = 10, cohort 3) were studied. Clinically measurable endophenotypes were compared according to the TBX6 genotypes.

[Screening of LDLR gene mutations in nine patients with familial hypercholesterolemia].

Objective: To screen for LDLR gene mutations in 9 patients with familial hypercholesterolemia (FH).

Methods: All exons of the LDLR gene and flanking intronic sequences were amplified by PCR and subjected to automatic DNA sequencing. For patients with homozygous or compound heterozygous mutations, parental DNA sequencing or T cloning sequencing was carried out to determine the parental origin of the mutant alleles.

Differential effects of clomipramine on depression-like behaviors induced by the chronic social defeat paradigm in tree shrews.

Background: Anhedonia is a hallmark symptom in major depression that reflects deficits in hedonic capacity and it is also linked to motivation for reward. However, studies of the features of motivation in depressed tree shrews are rather sparse.

Aims: The study aimed to investigate the core feature of depression including lack of interest, motivation reduction, and social avoidance in tree shrews.