C3 deficiency due to gene deletion results in left ventricle dysfunction, remodeling, and dilatation. Moreover, in the animal ...

The results of whole genome SNP microarray analysis showed approximately 77 Kb interstitial deletion of the short arm of ... a) Ideogram of chromosome 11 and deleted region (red bar) and genes involved with BWS. (b) Microarray showed 11p15.4 deletion ( ... The activity of the CDKN1C gene depends on which parent it was inherited from. Paternally imprinted gene would deactivate the ... It remains unclear what exactly is the relation between this deletion and the BWS/hemihypertrophy associated genes. ...

The metastasis gene signature and associated score could be applied directly to copy number alteration profiles from patient ... The function of the proteins encoded by some of the predictor genes promote escape from anoikis, a pathway of apoptosis, ... The alterations were modeled based on Darwin’s evolutionary selection theory and the genes overlapping these altered ... Heatmap showing copy number amplifications and deletions for tumor samples in the gene signature. The genes are arranged in ...

H. Wu, Y. Yu, L. David, Y. S. Ho, and M. F. Lou, "Glutaredoxin 2 (Grx2) gene deletion induces early onset of age-dependent ... 2) Nrf2 Gene Therapy. Gene therapy is an innovative method to correct or repair faulty or devoid genes. Ildefonso et al. used ... These studies showed that Grx2 gene deletion accelerates cataract pathogenesis, including augmenting PSSG formation and ... The frequency of the glutathione S-transferase theta 1 (GSTT1) gene was also found to be 20% less in cataractous lenses [127]. ...

L. D. Pound, S. A. Sarkar, R. K. P. Benninger et al., "Deletion of the mouse Slc30a8 gene encoding zinc transporter-8 results ... N. Wijesekara, F. F. Dai, A. B. Hardy et al., "Beta cell-specific Znt8 deletion in mice causes marked defects in insulin ... M. Foster, A. Chu, P. Petocz, and S. Samman, "Zinc transporter gene expression and glycemic control in post-menopausal women ... Z. Shan, W. Bao, Y. Zhang et al., "Interactions between zinc transporter-8 gene (SLC30A8) and plasma zinc concentrations for ...

It does so via repression of its transcription from a single promoter located between genes,i, SCO1678,/i, and,i, SCO1679,/i,. ... M145 gene,i, SCO1678,,/i, which encodes a GntR-like regulator of the FadR subfamily. Bioinformatic analysis suggested that,i, ... An in-frame deletion mutant S. coelicolor ΔgntR was constructed using REDIRECT technology [13]. For this purpose, gene SCO1678 ... Gene SCO1680 (gntP) encodes gluconate permease that transports the molecule into a cell. The next two genes, SCO1681-SCO1682 ( ...

... and myelin-related genes in patients with schizophrenia and will consider abnormal behaviors reported in patients with white ... They produced transgenic mice carrying a target alteration of the plp gene containing a deletion within exon III, mimicking ... 120] analyzed a transgenic mouse line harboring extra copies of the plp1 gene (. mice) at 2 months of age. Although the mice ... The Other Myelin-Related Genes. In addition to the aforementioned genes, there have also been reports of association with ...

Several of the genes likely affected by homozygous deletions are regulated by neuronal activity, and the expression of these ... Polymorphisms of genes involved in glutathione metabolism, including genes for GPx and glutathione S-transferase (GST), have ... "Neurological dysfunction occurs in mice with targeted deletion of the selenoprotein P gene," The Journal of Nutrition, vol. 134 ... Variants of major effect genes and numerous common variants with smaller effect genes have been identified in individuals with ...

In the last decade, new members of ,i,BCL2,/i, gene family were discovered and cloned and were found to be differentially ... retinoblastoma and p53 monoallelic gene deletions in B-cell chronic lymphocytic leukemia by fluorescence in situ hybridization ... BCL2 gene (otherwise B-cell lymphoma 2 gene, bcl-2) was first discovered in follicular B-cell lymphoma as a gene which is ... 4. BCL2 Gene Family and AML. BCL2 gene family is overexpressed in AML and seems to play an important role not only in disease ...

That means that a terminal deletion in chromosome 22 at band q13.31 region with the size of 4.17 Mb included the SHANK3 gene; ... If negative, either single gene analysis based on clinical phenotype or targeted gene panel by next generation sequencing ... UBE3A gene, MECP2 gene, and array CGH studies were negative. Based on the MRI findings and early onset of microcephaly, FOXG1 ... ZEB2 gene study was performed. It showed a de novo pathogenic frameshift mutation ZEB2. NM_014795.2}:c.[3335delACTT];[=];p.ZEB2 ...

... in which a heterozygous missense mutation in the NF1 gene was identified which had not yet been described (p.M1149 V). ... Then we studied the seven mitochondrial genes (MTND1-MTND6, and MTND4L) and subsequently sequenced the eleven nuclear genes in ... The most common mutations and mitochondrial DNA deletions of large size (3243A,G, 3271T,C, 8344A,G, 8356T,C, and 8993T,C/G) (5 ... The authors present a child with NF1 in which a heterozygous missense mutation in the NF1 gene was identified that had not yet ...

... retinal gene replacement therapy is available for patients with these clinical features, but only if they have biallelic ... and the Rotor-Gene 6000 Cycler system (Qiagen). Relative gene expression was calculated by 2-ΔCt analysis of housekeeping genes ... in-frame deletion, and splicing variants [6]. To date, there are no clear genotype-phenotype correlations reported, with the ... Relative gene expression was calculated by 2-ΔCt analysis compared to the expression of housekeeping genes POL2A and HPRT. ...

Mutations in the p53 tumor suppressor gene and accumulation of its protein in breast tissue are thought to play a role in ... R. J. Osborne, G. R. Merlo, T. Mitsudomi et al., "Mutations in the p53 gene in primary human breast cancers," Cancer Research, ... No deletions, insertions, nonsense mutations, silent mutations, or splice site mutations were detected. ... Mutations in the p53 tumor suppressor gene and accumulation of its protein in breast tissue are thought to play a role in ...

Functional annotation analysis of host gene of DEcircRNAs and DEmRNAs in ceRNA regulatory network was performed. In vitro ... MTOR was a significantly enriched signaling pathway of host gene of DEcircRNAs. In addition, arrhythmogenic right ventricular ... and mRNA expression profiles in the heart tissue from AF patients were retrieved from the Gene Expression Omnibus database and ... found that deletion of MFN2 leads to a spontaneous lethal dilated cardiomyopathy in mice [18]. In this study, we found that hsa ...

TRECs are the products of T-cell receptor gene rearrangement and can serve as markers for output of naïve T-lymphocytes that ... DiGeorge syndrome/22q11.2 deletion, and trisomy 21 being most common. An additional 28% of the non-SCID cases were attributed ... which are nonreplicative pieces of DNA formed during T-cell receptor gene rearrangement in the thymus and serve as a useful ... 22q11.2 deletion syndrome/DiGeorge syndrome, ataxia telangiectasia), often before any clinical features are evident or ...

These mutant genes include LRRK2, PINK1, Parkin, and DJ-1, among which PINK1/Parkin mutant primarily contributes to the ... In the patient with PD, the mtDNA in neurons, especially in nigra, is found to have a high level of mutant and deletion, which ... 1) Potential New Method for Gene Therapy. Exosome is capable to transport functional miRNAs, and this endogenic carrier ... A. Tan, J. Rajadas, and A. M. Seifalian, "Exosomes as nano-theranostic delivery platforms for gene therapy," Advanced Drug ...

We identified 42 genes affected by ,i,Wfs1,/i, genotype, 10 genes regulated by VPA treatment, and 9 genes whose regulation by ... Among the genes that were regulated differentially by VPA depending on genotype was peroxisome proliferator-activated receptor ... mice on hepatic gene expression profile. Wild type, ,i,Wfs1,/i, heterozygous, and homozygous mice were treated with VPA for ... three months (300 mg/kg i.p. daily) and gene expression profiles in liver were evaluated using Affymetrix Mouse GeneChip ...

The semiquantitative PCR of transgenics showed higher expression of stress-responsive genes. These data suggest that the ,i, ... factor is involved in the regulation of salt stress tolerance in tobacco by the activation of different downstream gene ... assays showed that SsDREB protein specifically binds to the DRE sequence and could activate the expression of reporter genes in ... method according to Jones-Taylor-Thornton model with uniform rates among sites and complete deletion of gaps data. The ...

Members of the miR-200 family target ZEB1, a transcription factor which represses E-cadherin and other genes involved in ... Ct). Briefly, the cycle threshold (Ct) values for the rRNA were subtracted from Ct values of the target gene to achieve the Ct ... and chromosomal deletion [36, 37]. In contrast, we have previously shown that transient transfection of the miR-200c mimic into ... M. V. Iorio, M. Ferracin, C.-G. Liu et al., "MicroRNA gene expression deregulation in human breast cancer," Cancer Research, ...

Thus, the selective deletion of VGLUT2 in a subpopulation of TH- and TRPV1-expressing neurons in mouse DRGs resulted in ... H.-S. Xiao, Q.-H. Huang, F.-X. Zhang et al., "Identification of gene expression profile of dorsal root ganglion in the rat ... On one hand, deletion of VGLUT3 in mice results in an increased threshold to intense noxious mechanical stimuli and reduced ... Selective deletion of VGLUT2 in another subpopulation of DRG neurons expressing the sodium channel subtype Nav1.8 resulted in ...

... gene (NM_018668) on chromosome 15q26.1, leading to a nonsense frameshift variant of VPS33B with premature termination of ... One allele harbors a deletion c.240-577_290-156del; p.Leu81Serfs∗5 that results in the absence of exon 4 from the cDNA, ... end of the gene.(iv)The mutation affects all known transcripts of the gene.(v)Multiple computational tools suggest a ... or most likely another gene is responsible for the ARC phenotype in that family. They provided no evidence that the gene was ...

J. J. Slee, R. D. Smart, and D. L. Viljoen, "Deletion of chromosome 13 in Moebius syndrome," Journal of Medical Genetics, vol. ... H. T. F. M. Verzijl, B. van den Helm, B. Veldman et al., "A second gene for autosomal dominant Möbius syndrome is localized to ... H. Kremer, L. P. Kuyt, B. van den Helm et al., "Localization of a gene for Möbius syndrome to chromosome 3q by linkage analysis ...

... is vital to continue replication studies and collaborative attempts to find significant results and thus determine which gene ... To date, no genes have been clearly related to TLE despite many efforts to do so. However, it ... an insertion/deletion in 5′UTR) and 5-HTTVNTR (a VNTR in intron 2) was estimated in different TLE cohorts. Ten repeats at 5- ... GABBR1 gene encodes one subunit of the GABA (B) receptor, and higher levels of GABBR1 mRNA have been found in hippocampal ...

... the myocyte-specific gene Mef2-c, the transcription factor gene T-box 1, and the fibroblast growth factor genes Fgf-8/10. Other ... In this regard, it has been demonstrated that cardiac-specific deletion of Atg5 in mice associates with early signs of ... J. J. Fuster, P. Molina-Sanchez, D. Jovani, A. Vinué, M. Serrano, and V. Andrés, "Increased gene dosage of the Ink4/Arf locus ... The human K+ channel ether-à-go-go gene (hERG) might also be interested by age-dependent mutations causing rhythm instabilities ...

However, a deletion construct lacking the Ets DNA binding domain (Δ201-272) was unable to bind to E47 (Figure 2(c)). These data ... Y. Zhuang, P. Soriano, and H. Weintraub, "The helix-loop-helix gene E2A is required for B cell formation," Cell, vol. 79, no. 5 ... Deletion of the transactivation domain (Δ33-100) and the PEST region (Δ118-160) of PU.1 had no effect on binding to E47. ... B. L. Kee and C. Murre, "Induction of early B cell factor (EBF) and multiple B lineage genes by the basic helix-loop-helix ...

... point mutation in one of the genes comprised in the sSMC or in another gene responsible for developmental delay, uniparental ... identification of two intervals also associated with 22q11 deletion syndrome breakpoints," Cytogenetics and Cell Genetics, vol ...

... of a target gene to modulate gene expression at the posttranscriptional level [8]. A number of studies have confirmed that ... Z. Xiao, L. Cao, Y. Liang et al., "Osteoblast-specific deletion of Pkd2 leads to low-turnover osteopenia and reduced bone ... S. Jonas and E. Izaurralde, "Towards a molecular understanding of microRNA-mediated gene silencing," Nature Reviews Genetics, ... The heterooligomer translocates to the nucleus and then positively regulates the transcription of osteogenesis-related genes. ...

G. Shafiee, Y. Asgari, A. Soltani, B. Larijani, and R. Heshmat, "Identification of candidate genes and proteins in aging ... mitochondrial DNA content and mitochondrial DNA deletions," Bioscience Reports, vol. 22, no. 1, pp. 115-125, 2002. ... and mitochondrial gene transcripts in the vastus lateralis muscles of human [21]. Muscle loss is also associated with an ... skeletal muscle (sarcopenia) using gene expression and structural analysis," PeerJ, vol. 6, article e5239, 2018. ...

L. Zhao, in The Influence of Moxibustion at ST36 on the Expression of Genes Related Oxidative Phosphorylation in Adjuvant ... mitochondrial FoF1ATPase activity by Sirt3-catalyzed deacetylation and its deficiency in human cells harboring 4977 bp deletion ... Overexpression of SIRT3 in cells affects expression of genes involved in mitochondrial function. In light of the central role ...

P. Carmeliet, M.-G. Lampugnani, L. Moons et al., "Targeted deficiency or cytosolic truncation of the VE-cadherin gene in mice ... T. T. Schmidt, M. Tauseef, L. Yue et al., "Conditional deletion of FAK in mice endothelium disrupts lung vascular barrier ... F. Trapasso, A. Drusco, S. Costinean et al., "Genetic ablation of Ptprj, a mouse cancer susceptibility gene, results in normal ... 177], by showing that conditional FAK deletion in the endothelium promoted features of acute lung injury, such as hemorrhage, ...