Atypical deletion of Williams–Beuren syndrome reveals the mechanism of neurodevelopmental disorders

Zhou, Jianrong; Zheng, Ying; Liang, Guiying; Xu, Xiu; Liu, Jian; Chen, Shaoxian; Ge, Tongkai; Wen, Pengju; Zhang, Yong; Liu, Xiaoqing; Zhuang, Jian; Wu, Yueheng; Chen, Jimei

doi:10.1186/s12920-022-01227-7

Cited by 11 publications

(6 citation statements)

References 61 publications

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“…Another BP-associated candidate gene, FZD9, is located in the Williams syndrome (WS) deletion region; WS is a genetic neurodevelopmental disorder characterized by cognitive, behavioral, emotional and social symptoms, which is dependent on the genes involved in the deletion [30]. Research has shown that FZD9, as an important factor in neural cell regulation, is highly expressed in the hippocampus, and the deletion of the FZD9 gene could affect the development of the nervous system and cause cognitive impairment by increasing the doubling and apoptosis of nerve cells [31,32]. HTR7, associated with ST, is considered an important candidate gene because it was a candidate locus in several neuropsychiatric disorders based on pharmacological studies [33].…”

Section: Discussionmentioning

confidence: 99%

The Effect of Sow Maternal Behavior on the Growth of Piglets and a Genome-Wide Association Study

Liu,

Li,

Wang

et al. 2023

Animals

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Sows’ maternal behavior is important for improving piglet survival and growth; thus, breeding for good mothering sows is necessary for pig production. However, there is little research on the genetic mechanism of maternal behavior. In this study, a comparative analysis of piglets’ growth traits between good and bad maternal behavior groups and a genome-wide association study (GWAS) was performed to elucidate the impact of sows’ maternal behavior on piglet growth and identify candidate genes and markers of sow’s maternal behaviors. Comparing the growth traits of piglets between good and bad sows’ maternal behavior groups, the results showed that the growth traits of piglets from sows with good maternal behavior were better than those from sows with bad maternal behavior and especially for the multiparous sows group, this comparative difference was significant. For the intensive study of the genetic mechanisms of sows’ maternal behavior, a total of 452 sows were genotyped using the Illumina Porcine 50K SNP Chip, and 4 traits, including biting piglets (BP), crushing piglets (CP), trampling piglets (TP) and screaming test (ST), were examined. Using a GWAS, 20 single nucleotide polymorphisms (SNPs) were found to be associated with these traits. Within 1 Mb upstream and downstream of the significant SNPs screened, 138 genes were obtained. After pathway enrichment and gene annotation, HIP1, FZD9 and HTR7 were identified as important candidate genes affecting sows’ maternal behaviors. These findings preliminarily elucidate the genetic basis of sows’ maternal behavior traits and provide candidate genes and markers for molecular breeding in pigs.

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Section: Discussionmentioning

confidence: 99%

The Effect of Sow Maternal Behavior on the Growth of Piglets and a Genome-Wide Association Study

Liu,

Li,

Wang

et al. 2023

Animals

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“…Recently, it has been revealed that native vesicle docking can be mediated by a single trans binary Sx1A-Sb2 complex in the absence of SNAP25 [ 39 , 40 ]. And STX1A may be involved in Williams-Beuren syndrome and Parkinson's disease [ 41 , 42 ]. To date, the link between STX1A and dopaminergic neurons is not fully disclosed.…”

Section: Discussionmentioning

confidence: 99%

Striatal Syntaxin 1A Is Associated with Development of Tourette Syndrome in an Iminodipropionitrile-Induced Animal Model

Yang¹,

Wang

Liu

et al. 2022

Disease Markers

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Tourette syndrome (TS) is a neurodevelopmental movement disorder characterized by multiple motor and vocal tics. In this study, we used a TS rat model induced by 3,3 ′ -iminodipropionitrile (IDPN) and aimed to investigate the expression change of Syntaxin 1A (STX1A). Rats in the control group received intraperitoneal injection of normal saline, and TS rats were injected with IDPN (150 mg/kg/day). After 7 days of treatment, the stereotypic behaviors were assessed. Next, rats were sacrificed; brains were removed for RNA extraction and Western blotting analysis and fixed in 4% paraformaldehyde for immunofluorescence analysis. After 7 days of IDPN administration, stereotypic behaviors were successfully induced. The IDPN group exhibited more counts in biting, putting forepaws around mouth, licking, head twitching, shaking claws, body raising, and episodic utterance. The striatal STX1A mRNA, protein, and STX1A expression in striatal dopaminergic neurons were investigated. As expected, the total STX1A mRNA and protein levels were decreased in the TS model rats. In the striatal dopaminergic neurons, the IDPN group showed a slightly decreased STX1A/TH double positive area, but no statistical significance was found. Additionally, we assessed the expression of some genes closely related to STX1A, such as SNAP25, SY, and gephyrin, and no differences were found between the two groups. Together, reduced STX1A expression is associated with IDPN-induced TS development. Our findings suggested that decreased striatal STX1A expression is associated with the development of TS in the IDPN-induced rat model.

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“…Given the complexity of cancer etiology and unsatisfactory treatment outcomes, it is imperative to explore the role of more genes in pan-cancer. BAZ1B has been reported to maintain chromosomal structural stability, participate in neurodevelopment, and be involved in cellular biological processes such as chromosomal remodeling, transcriptional regulation, DNA repair [31][32][33][34][35].…”

Section: Discussionmentioning

confidence: 99%

Pan Cancer Insights into BAZ1B as a Prognostic and Immunological Marker

Xin¹,

Li²,

Zhang³

et al. 2022

J Biomed Res Environ Sci

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Background: The Bromodomain Adjacent to the Zinc Finger Domain 1B (BAZ1B) is a versatile nuclear protein. BAZ1B acts on chromatin remodeling, participates in DNA replication and damage repair, and is involved in RNA transcription based on its kinase activity. Although many experimental data support a close relationship between BAZ1B and cancer, its role in pan-cancer remains unclear. Our study aimed to analyze the prognostic and immune functions of BAZ1B expression in different cancers. Methods: Based on different databases, we investigated the potential carcinogenicity of BAZ1B, including the expression of all TCGA tumors, correlation with prognosis, Tumor Microenvironment (TME), protein phosphorylation, and functional enrichment. Results: The results showed that BAZ1B was overexpressed in a variety of cancers, and there was a significant correlation between gene mutations and poor prognosis associated with high expression in most cancer patients. We observed elevated phosphorylation levels in breast cancer and lung adenocarcinoma. A significant relationship was also found between BAZ1B expression and TME, including tumor-associated fibroblast infiltration. We also observed that the cellular function of DNA and hepatocellular carcinoma may be related to the molecular mechanism of BAZ1B. Conclusion: The prognostic and immunological markers of BAZ1B provides a new understanding for future studies in our first pan-cancer analysis.

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Atypical deletion of Williams–Beuren syndrome reveals the mechanism of neurodevelopmental disorders

Cited by 11 publications

References 61 publications

The Effect of Sow Maternal Behavior on the Growth of Piglets and a Genome-Wide Association Study

The Effect of Sow Maternal Behavior on the Growth of Piglets and a Genome-Wide Association Study

Striatal Syntaxin 1A Is Associated with Development of Tourette Syndrome in an Iminodipropionitrile-Induced Animal Model

Pan Cancer Insights into BAZ1B as a Prognostic and Immunological Marker

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