Circ1811 suppresses gastric cancer progression by regulating the miR-632/DAPK1 axis
In this study, attention is paid to a novel circular RNA circ1811, which exerts significant downregulated expression in GC tissues compared with adjacent non-cancerous tissues. The expression of circ1811 in GC tumor tissues is negatively correlated with the extent of lymphatic metastasis in GC patients. Overexpression of circ1811 inhibited GC cell proliferation, migration and invasion while promoting apoptosis, whereas knockdown of circ1811 led to the opposite effects. AGO2 RIP and dual luciferase reporter assays indicated that circ1811 directly sponges miR-632 to upregulate the expression of DAPK1. Collectively, circ1811 ...
Source: Gene - March 4, 2024 Category: Genetics & Stem Cells Authors: Min Fu Jianmei Gu Dan Yu Maoye Wang Jiahui Zhang Runbi Ji Pengcheng Jiang Xu Zhang Source Type: research

Identification and involvement of DAX1 gene in spermatogenesis of boring giant clam Tridacna crocea
Gene. 2024 Mar 2:148338. doi: 10.1016/j.gene.2024.148338. Online ahead of print.ABSTRACTDAX1 (dosage-sensitive sex reversal, adrenal hypoplasia congenital critical region on X chromosome gene 1), a key sex determinant in various species, plays a vital role in gonad differentiation and development and controls spermatogenesis. However, the identity and function of DAX1 are still unclear in bivalves. In the present study, we identified a DAX1 (designed as Tc-DAX1) gene from the boring giant clam Tridacna crocea, a tropical marine bivalve. The full length of Tc-DAX1 was 1877 bp, encoding 462 amino acids, with a Molecular weig...
Source: Gene - March 4, 2024 Category: Genetics & Stem Cells Authors: Zohaib Noor Shuming Guo Zhen Zhao Yanpin Qin Gongpengyang Shi Haitao Ma Yuehuan Zhang Jun Li Ziniu Yu Source Type: research

Compound heterozygous variants in MYBPC1 lead to severe distal arthrogryposis type-1 manifestations
Gene. 2024 Mar 2;910:148339. doi: 10.1016/j.gene.2024.148339. Online ahead of print.ABSTRACTDominant missense variants in MYBPC1 encoding slow Myosin Binding Protein-C (sMyBP-C) have been increasingly linked to arthrogryposis syndromes and congenital myopathy with tremor. Herein, we describe novel compound heterozygous variants - NM_002465.4:[c.2486_2492del];[c.2663A > G] - present in fibronectin-III (Fn-III) C7 and immunoglobulin (Ig) C8 domains, respectively, manifesting as severe, early-onset distal arthrogryposis type-1, with the carrier requiring intensive care and several surgical interventions at an early age. Co...
Source: Gene - March 4, 2024 Category: Genetics & Stem Cells Authors: Aishwarya Iyer Barbora Lauerova Jennifer Mariano Jana Haberlov á Petra Lassuthova Jana Zidkova Nathan T Wright Aikaterini Kontrogianni-Konstantopoulos Source Type: research

Circ1811 suppresses gastric cancer progression by regulating the miR-632/DAPK1 axis
In this study, attention is paid to a novel circular RNA circ1811, which exerts significant downregulated expression in GC tissues compared with adjacent non-cancerous tissues. The expression of circ1811 in GC tumor tissues is negatively correlated with the extent of lymphatic metastasis in GC patients. Overexpression of circ1811 inhibited GC cell proliferation, migration and invasion while promoting apoptosis, whereas knockdown of circ1811 led to the opposite effects. AGO2 RIP and dual luciferase reporter assays indicated that circ1811 directly sponges miR-632 to upregulate the expression of DAPK1. Collectively, circ1811 ...
Source: Gene - March 4, 2024 Category: Genetics & Stem Cells Authors: Min Fu Jianmei Gu Dan Yu Maoye Wang Jiahui Zhang Runbi Ji Pengcheng Jiang Xu Zhang Source Type: research

Identification and involvement of DAX1 gene in spermatogenesis of boring giant clam Tridacna crocea
Gene. 2024 Mar 2:148338. doi: 10.1016/j.gene.2024.148338. Online ahead of print.ABSTRACTDAX1 (dosage-sensitive sex reversal, adrenal hypoplasia congenital critical region on X chromosome gene 1), a key sex determinant in various species, plays a vital role in gonad differentiation and development and controls spermatogenesis. However, the identity and function of DAX1 are still unclear in bivalves. In the present study, we identified a DAX1 (designed as Tc-DAX1) gene from the boring giant clam Tridacna crocea, a tropical marine bivalve. The full length of Tc-DAX1 was 1877 bp, encoding 462 amino acids, with a Molecular weig...
Source: Gene - March 4, 2024 Category: Genetics & Stem Cells Authors: Zohaib Noor Shuming Guo Zhen Zhao Yanpin Qin Gongpengyang Shi Haitao Ma Yuehuan Zhang Jun Li Ziniu Yu Source Type: research

Compound heterozygous variants in MYBPC1 lead to severe distal arthrogryposis type-1 manifestations
Gene. 2024 Mar 2:148339. doi: 10.1016/j.gene.2024.148339. Online ahead of print.ABSTRACTDominant missense variants in MYBPC1 encoding slow Myosin Binding Protein-C (sMyBP-C) have been increasingly linked to arthrogryposis syndromes and congenital myopathy with tremor. Herein, we describe novel compound heterozygous variants - NM_002465.4:[c.2486_2492del];[c.2663A > G] - present in fibronectin-III (Fn-III) C7 and immunoglobulin (Ig) C8 domains, respectively, manifesting as severe, early-onset distal arthrogryposis type-1, with the carrier requiring intensive care and several surgical interventions at an early age. Comput...
Source: Gene - March 4, 2024 Category: Genetics & Stem Cells Authors: Aishwarya Iyer Barbora Lauerova Jennifer Mariano Jana Haberlov á Petra Lassuthova Jana Zidkova Nathan T Wright Aikaterini Kontrogianni-Konstantopoulos Source Type: research

Circ1811 suppresses gastric cancer progression by regulating the miR-632/DAPK1 axis
In this study, attention is paid to a novel circular RNA circ1811, which exerts significant downregulated expression in GC tissues compared with adjacent non-cancerous tissues. The expression of circ1811 in GC tumor tissues is negatively correlated with the extent of lymphatic metastasis in GC patients. Overexpression of circ1811 inhibited GC cell proliferation, migration and invasion while promoting apoptosis, whereas knockdown of circ1811 led to the opposite effects. AGO2 RIP and dual luciferase reporter assays indicated that circ1811 directly sponges miR-632 to upregulate the expression of DAPK1. Collectively, circ1811 ...
Source: Gene - March 4, 2024 Category: Genetics & Stem Cells Authors: Min Fu Jianmei Gu Dan Yu Maoye Wang Jiahui Zhang Runbi Ji Pengcheng Jiang Xu Zhang Source Type: research

Identification and involvement of DAX1 gene in spermatogenesis of boring giant clam Tridacna crocea
Gene. 2024 Mar 2:148338. doi: 10.1016/j.gene.2024.148338. Online ahead of print.ABSTRACTDAX1 (dosage-sensitive sex reversal, adrenal hypoplasia congenital critical region on X chromosome gene 1), a key sex determinant in various species, plays a vital role in gonad differentiation and development and controls spermatogenesis. However, the identity and function of DAX1 are still unclear in bivalves. In the present study, we identified a DAX1 (designed as Tc-DAX1) gene from the boring giant clam Tridacna crocea, a tropical marine bivalve. The full length of Tc-DAX1 was 1877 bp, encoding 462 amino acids, with a Molecular weig...
Source: Gene - March 4, 2024 Category: Genetics & Stem Cells Authors: Zohaib Noor Shuming Guo Zhen Zhao Yanpin Qin Gongpengyang Shi Haitao Ma Yuehuan Zhang Jun Li Ziniu Yu Source Type: research

Compound heterozygous variants in MYBPC1 lead to severe distal arthrogryposis type-1 manifestations
Gene. 2024 Mar 2:148339. doi: 10.1016/j.gene.2024.148339. Online ahead of print.ABSTRACTDominant missense variants in MYBPC1 encoding slow Myosin Binding Protein-C (sMyBP-C) have been increasingly linked to arthrogryposis syndromes and congenital myopathy with tremor. Herein, we describe novel compound heterozygous variants - NM_002465.4:[c.2486_2492del];[c.2663A > G] - present in fibronectin-III (Fn-III) C7 and immunoglobulin (Ig) C8 domains, respectively, manifesting as severe, early-onset distal arthrogryposis type-1, with the carrier requiring intensive care and several surgical interventions at an early age. Comput...
Source: Gene - March 4, 2024 Category: Genetics & Stem Cells Authors: Aishwarya Iyer Barbora Lauerova Jennifer Mariano Jana Haberlov á Petra Lassuthova Jana Zidkova Nathan T Wright Aikaterini Kontrogianni-Konstantopoulos Source Type: research

Identification of a novel mutation of PDGFC gene in a girl with non-syndromic cleft lip and palate
CONCLUSION: The c.546dupA (p.L183fs) mutation of PDGFC has not been previously reported and was not found in human genome databases. We speculate that the c.546dupA mutation of the PDGFC gene, identified in the Iranian patient, may be responsible for the phenotype of non-syndromic CL/CP (ns-CL/CP). Further studies are warranted to explore the specific pathogenesis of the PDGFC mutation in ns-CL/CP.PMID:38432532 | DOI:10.1016/j.gene.2024.148335 (Source: Gene)
Source: Gene - March 3, 2024 Category: Genetics & Stem Cells Authors: Maryam Rahnama Tahereh Movahedi Atieh Eslahi Nasrin Kaseb-Mojaver Masoome Alerasool Nasim Adabi Majid Mojarrad Source Type: research

Mitochondrial DNA mutations in extremely preterm infants with bronchopulmonary dysplasia
This study aimed to evaluate mitochondrial mtDNA gene mutations in extremely preterm infants with BPD. In this prospective observational study, we enrolled a cohort of extremely preterm infants diagnosed with BPD. Clinical data were collected to provide comprehensive patient profiles. Peripheral blood mononuclear cells were isolated from whole-blood samples obtained within a defined timeframe. Subsequently, mtDNA extraction and sequencing using next-generation sequencing technology were performed to identify mtDNA gene mutations. Among the cohort of ten extremely preterm infants with BPD, mtDNA sequencing revealed the pres...
Source: Gene - March 3, 2024 Category: Genetics & Stem Cells Authors: Jiyoon Jeong Yeonmi Lee Jongsuk Han Eunju Kang Deokhoon Kim Ki-Soo Kim Ellen Ai-Rhan Kim Byong Sop Lee Euiseok Jung Source Type: research

Study on the mechanism of S100A4-mediated cancer oncogenesis in uveal melanoma cells through the integration of bioinformatics and in vitro experiments
CONCLUSION: S100A4 silencing can inhibit the proliferation, migration, and invasion and synchronously induces apoptosis in UM cells.PMID:38431233 | DOI:10.1016/j.gene.2024.148333 (Source: Gene)
Source: Gene - March 2, 2024 Category: Genetics & Stem Cells Authors: Huimei Chen Wenqing Zhang Jian Shi Yu Tang Xiong Chen Jiangwei Li Xiaolei Yao Source Type: research

Epigenetic disruptions in the offspring hypothalamus in response to maternal infection
Gene. 2024 Feb 29:148329. doi: 10.1016/j.gene.2024.148329. Online ahead of print.ABSTRACTDNA methylation is an epigenetic modification that can alter gene expression, and the incidence can vary across developmental stages, inflammatory conditions, and sexes. The effects of viral maternal viral infection and sex on the DNA methylation patterns were studied in the hypothalamus of a pig model of immune activation during development. DNA methylation at single-base resolution in regions of high CpG density was measured on 24 individual hypothalamus samples using reduced representation bisulfite sequencing. Differential over- an...
Source: Gene - March 2, 2024 Category: Genetics & Stem Cells Authors: Samah Alsegehy Bruce R Southey Alvaro G Hernandez Lauretta A Rund Adrienne M Antonson Romana A Nowak Rodney W Johnson Sandra L Rodriguez-Zas Source Type: research

Inhibition of the bla < sub > OXA-48 < /sub > gene expression in Klebsiella pneumoniae by a plasmid carrying CRISPRi-Cas9 system
Gene. 2024 Feb 29:148332. doi: 10.1016/j.gene.2024.148332. Online ahead of print.ABSTRACTAntibiotic resistance is an increasing concern that threatens the effectiveness of treating bacterial infections. The spread of carbapenem resistant Klebsiella pneumoniae poses a significant threat to global public health. To combat this issue, the clustered regularly interspaced short palindromic repeats interference (CRISPRi) system is being developed. This system includes a single guide RNA (sgRNA) and a nuclease dead Cas9 (dCas9), which work together to downregulate gene expression. Our project involved the use of the CRISPRi syste...
Source: Gene - March 2, 2024 Category: Genetics & Stem Cells Authors: Yeganeh Hajizadeh Farzad Badmasti Mana Oloomi Source Type: research

BERT-siRNA: siRNA target prediction based on BERT pre-trained interpretable model
Gene. 2024 Feb 29:148330. doi: 10.1016/j.gene.2024.148330. Online ahead of print.ABSTRACTSilencing mRNA through siRNA is vital for RNA interference (RNAi), necessitating accurate computational methods for siRNA selection. Current approaches, relying on machine learning, often face challenges with large data requirements and intricate data preprocessing, leading to reduced accuracy. To address this challenge, we propose a BERT model-based siRNA target gene knockdown efficiency prediction method called BERT-siRNA, which consists of a pre-trained DNA-BERT module and Multilayer Perceptron module. It applies the concept of tran...
Source: Gene - March 2, 2024 Category: Genetics & Stem Cells Authors: Jiayu Xu Nan Xu Weixin Xie Chengkui Zhao Lei Yu Weixing Feng Source Type: research