[Genetic analysis of a pedigree affected with Intellectual disability due to variants of two different genes].

Objective: To explore the genetic etiology of a pedigree with intellectual disability and explore its pathogenesis.

Methods: A Chinese pedigree which had presented at the Henan Provincial People's Hospital in March 2023 was selected as the study subject. Clinical data of the pedigree were collected, along with peripheral venous blood samples from its members.

Combined miR-181a-5p and Ag Nanoparticles are Effective Against Oral Cancer in a Mouse Model.

Purpose: Oral squamous cell carcinoma is the most common type of malignant tumor in the head and neck region. Despite advancements, metastasis and recurrence rates remain high, and patient survival has not significantly improved. Although miRNA therapies are promising for cancer gene therapy, their applications in treating oral cancer are limited.

SP110 Could be Used as a Potential Predictive and Therapeutic Biomarker for Oral Cancer.

The morbidity of oral squamous cell carcinoma (OSCC) has been rising year after year, making it a major global health issue. But the molecular pathogenesis of OSCC is currently unclear. To study the potential pathogenesis of OSCC, the differentially expressed genes (DEGs) were screened, and multiple databases were used to perform the tumor stage, expression, prognosis, protein-protein interaction (PPI) networks, modules, and the functional enrichment analysis.

[Clinical features and genetic analysis of 17 Chinese pedigrees affected with X-linked intellectual disability].

Objective: To analyze the clinical features and genetic etiology of 17 Chinese pedigrees affected with X-linked intellectual disability (XLID).

Methods: Seventeen pedigrees affected with unexplained intellectual disability which had presented at Henan Provincial People's Hospital from May 2021 to May 2023 were selected as the study subjects. Clinical data of the probands and their pedigree members were collected.

Risk factors and healing factors for pharyngocutaneous fistula after total laryngectomy for laryngeal cancer: An epidemiological study.

To analyse the risk factors and healing factors of pharyngocutaneous fistula (PCF) in patients with laryngeal cancer after total laryngectomy, and to explore the relevant epidemiology. A retrospective analysis was conducted on laryngeal cancer patients who underwent total laryngectomy in our hospital from January 2010 to December 2022. The 349 patients included in the study were divided into a PCF group of 79 and a non-PCF group of 270.

Identification of novel gene splice variants and pathological findings in a fetus with Meckel Syndrome.

Meckel Syndrome (MKS, OMIM #249000) is a rare and fatal autosomal recessive ciliopathy with high clinical and genetic heterogeneity. MKS shows complex allelism with other related ciliopathies such as Joubert Syndrome (JBTS, OMIM #213300). In MKS, the formation and function of the primary cilium is defective, resulting in a multisystem disorder including occipital encephalocele, polycystic kidneys, postaxial polydactyly, liver fibrosis, central nervous system malformations and genital anomalies.

Functional analysis of a novel nonsense variant c.91A>T of the gene in a Chinese family with X-linked recessive autosomal spondyloepiphyseal dysplasia tarda.

Spondyloepiphyseal dysplasia tarda (SEDT) is a condition involving late-onset, X-linked recessive skeletal dysplasia caused by mutations in the gene. In this paper, we identified a novel nonsense variant in a SEDT pedigree and analyzed the function of the variant in an attempt to explain the new pathogenesis of the TRAPPC2 protein in SEDT. Briefly, DNA and RNA samples from the peripheral blood of SEDT individuals were prepared.

Frizzled 6 mutation regulates reserpine-induced depression-like behavior and Wnt signaling pathway in mice.

Background: Frizzled 6 (Fzd6) is involved in the development of various disorders; however, its role in the etiology of depression remains unclear. We aimed to determine the potential regulatory mechanisms of Fzd6 as a Wnt receptor in depression.

Methods: Mice were divided into four groups: wild-type control (Fzd6-control), Fzd6 mutant control (Fzd6-control), wild-type reserpine (Fzd6-reserpine), and Fzd6 mutant reserpine (Fzd6-reserpine).

Three-way contact analysis characterizes the higher order organization of the Tcra locus.

The generation of highly diverse antigen receptors in T and B lymphocytes relies on V(D)J recombination. The enhancer Eα has been implicated in regulating the accessibility of Vα and Jα genes through long-range interactions during rearrangements of the T-cell antigen receptor gene Tcra. However, direct evidence for Eα physically mediating the interaction of Vα and Jα genes is still lacking.

Identification of a novel de novo mutation of SETBP1 and new findings of SETBP1 in tumorgenesis.

Background: In the past decade, SETBP1 has attracted a lot of interest on that the same gene with different type or level (germline or somatic) of variants could provoke different pathologic consequences such as Schinzel-Giedon syndrome, SETBP1 Haploinsufficiency Disorder (SETBP1-HD) and myeloid malignancies. Whole exome sequencing was conducted to detect the etiology of a pregnant woman with mental retardation. As a new oncogene and potential marker of myeloid malignancies, somatic SETBP1 variants in other cancers were rarely studied.

RNA sequencing revealed the multi-stage transcriptome transformations during the development of gallbladder cancer associated with chronic inflammation.

Gallbladder cancer (GBC) is a highly malignant tumor with extremely poor prognosis. Previous studies have suggested that the carcinogenesis and progression of GBC is a multi-stage and multi-step process, but most of them focused on the genome changes. And a few studies just compared the transcriptome differences between tumor tissues and adjacent noncancerous tissues.

Screening and identification of miR-181a-5p in oral squamous cell carcinoma and functional verification in vivo and in vitro.

Background: Oral squamous cell carcinoma (OSCC) is a common malignant tumor associated with poor prognosis. MicroRNAs (miRNAs) play crucial regulatory roles in the cancer development. However, the role of miRNAs in OSCC development and progression is not well understood.

The Treatment Effect of Non-Surgical Ear Molding Correction in Children with Mild Cryptotia Deformity.

Objective: To investigate the treatment effect of non-surgical ear molding correction in children with mild cryptotia deformity.

Methods: 51 cases were collected from 2016 to 2021. They were divided into four groups (6 months-1 year group, 1-3 years group, 3-6 years group, and ≥6 years group).

Chromatin organizer SATB1 controls the cell identity of CD4 CD8 double-positive thymocytes by regulating the activity of super-enhancers.

CD4 and CD8 double-positive (DP) thymocytes play a crucial role in T cell development in the thymus. DP cells rearrange the T cell receptor gene Tcra to generate T cell receptors with TCRβ. DP cells differentiate into CD4 or CD8 single-positive (SP) thymocytes, regulatory T cells, or invariant nature kill T cells (iNKT) in response to TCR signaling.

METTL3-Mediated mA RNA Methylation of ZBTB4 Interferes With Trophoblast Invasion and Maybe Involved in RSA.

N-methyladenosine (mA) was the most abundant modification of mRNA and lncRNA in mammalian cells and played an important role in many biological processes. However, whether mA modification was associated with recurrent spontaneous abortion (RSA) and its roles were still unclear. Methylated RNA immunoprecipitation sequencing (MeRIP-Seq) was used to study the global mA modification pattern in RSAs and controls.

A gonadal mosaicism novel KMT2D mutation identified by haplotype construction and clone sequencing strategy.

Here we reported a pedigree that gave birth to two characteristic clinical signs of Kabuki syndrome daughters. They had an intellectual disability with special facial features. Their eyebrows were relatively wide and the rear 1/3 of the eyebrows were light and sparse.

Epicardium-Derived Tbx18 CDCs Transplantation Improve Heart Function in Infarcted Mice.

Cardiosphere-derived cells (CDCs) constitute a cardiac stem cell pool, a promising therapeutics in treating myocardial infarction (MI). However, the cell source of CDCs remains unclear. In this study, we isolated CDCs directly from adult mouse heart epicardium named primary epicardium-derived CDCs (pECDCs), which showed a different expression profile compared with primary epicardial cells (pEpiCs).

Phase separation of Epstein-Barr virus EBNA2 protein reorganizes chromatin topology for epigenetic regulation.

Epstein-Barr virus nuclear antigen 2 (EBNA2) is a transactivator of viral and cellular gene expression, which plays a critical role in the Epstein-Barr virus-associated diseases. It was reported that EBNA2 regulates gene expression by reorganizing chromatin and manipulating epigenetics. Recent studies showed that liquid-liquid phase separation plays an essential role in epigenetic and transcriptional regulation.

Autosomal Recessive Retinitis Pigmentosa Associated with Three Novel Variants in Chinese Population.

Retinitis pigmentosa 77 is caused by mutations of (MIM: 609346), which encodes a protein for the development of photoreceptors. Our study was to identify disease-causing variants in three Chinese families using targeted next-generation sequencing (NGS). Multiple lines of computational predictions combined with in vitro cellular experiments were applied to evaluate the pathogenicity of the newly found variants.

The role of chromatin organizer Satb1 in shaping TCR repertoire in adult thymus.

T cells recognize the universe of foreign antigens with a diverse repertoire of T cell receptors generated by V(D)J recombination. Special AT-rich binding protein 1 (Satb1) is a chromatin organizer that plays an essential role in T cell development. Previous study has shown that Satb1 regulates the re-induction of recombinase Rag1 and Rag2 in CD4CD8 thymocytes, affecting the secondary rearrangement of the gene.

[Genotype and clinical phenotype analysis of 42 patients with delayed nonsyndromic hearing loss].

The aim of this study is to analyze the mutation characteristics of GJB2 and SLC26A4 gene in patients with delayed non-syndromic hearing loss, which is beneficial to the early detection and intervention of delayed deafness. Sanger sequencing technology was used to detect two common genes in 139 patients with non-syndromic deafness, six hot spot mutations in GJB2 gene and SLC26A4 gene, and single heterozygous mutations found in GJB2 gene and SLC26A4 gene were detected by whole exome sequencing. Among the 25 patients with deafness caused by GJB2 gene mutation, 12 of them passed universal newborn hearing screening and then developed delayed extremely severe hearing loss.

Integrative Analysis Extracts a Core ceRNA Network of the Fetal Hippocampus With Down Syndrome.

Accumulating evidence suggests that circular RNAs (circRNAs)-miRNA-mRNA ceRNA regulatory network-may play an important role in neurological disorders, such as Alzheimer's disease (AD). Interestingly, neuropathological changes that closely resemble AD have been found in nearly all Down syndrome (DS) cases > 35 years. However, few studies have reported circRNA transcriptional profiling in DS cases, which is caused by a chromosomal aberration of trisomy 21.

[Identification of SPAST gene variant in a pedigree affected with hereditary spastic paraplegia type 4].

Objective: To explore the genetic basis for a pedigree affected with hereditary spastic paraplegia type 4 (HSP4).

Methods: Peripheral venous blood samples were taken from members of the four-generation pedigree and 50 healthy controls for the extraction of genomic DNA. Genes associated with peripheral neuropathy and hereditary spastic paraplegia were captured and subjected to targeted capture and next-generation sequencing.