MADD Knock-Down Enhances Doxorubicin and TRAIL Induced Apoptosis in Breast Cancer Cells

Turner, Andrea; Li, Liang Cheng; Pilli, Tania; Qian, Lixia; Wiley, Elizabeth L.; Setty, Suman; Christov, Konstantin; Ganesh, Lakshmy; Maker, Ajay V.; Li, Peifeng; Kanteti, Prasad; Gupta, Tapas K. Das

doi:10.1371/journal.pone.0056817

Cited by 28 publications

(26 citation statements)

References 31 publications

(45 reference statements)

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“…Finally, MADD, a splice variant of IG20 gene, encodes a protein highly expressed in melanocytes, parotid acinar cells, and involved in physiological cell death. [19][20][21] Taking into account of all these data, we focused on the KCNC1 gene previously involved in myoclonus epilepsies. 13 Up to now, only one loss-of-function variant was described in ExAC database (c.1504+1G4T, 1/117116).…”

Section: Discussionmentioning

confidence: 99%

Loss of Function of KCNC1 is associated with intellectual disability without seizures

et al. 2017

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p.(Arg320His) mutation in the KCNC1 gene in human 11p15.1 has recently been identified in patients with progressive myoclonus epilepsies, a group of rare inherited disorders manifesting with action myoclonus, myoclonic epilepsy, and ataxia. This KCNC1 variant causes a dominant-negative effect. Here we describe three patients from the same family with intellectual disability and dysmorphic features. The three affected individuals carry a c.1015C>T (p.(Arg339*)) nonsense variant in KCNC1 gene. As previously observed in the mutant mouse carrying a disrupted KCNC1 gene, these findings reveal that individuals with a KCNC1 loss-of-function variant can present intellectual disability without seizure and epilepsy.

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Section: Discussionmentioning

confidence: 99%

Loss of Function of KCNC1 is associated with intellectual disability without seizures

et al. 2017

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“…The association of the non-diabetogenic alleles or genotypes for the polymorphisms within KCNQ1, CDKN2A-2B, MADD, KCNJ11, THADA and FTO genes with the risk of MM suggests that these genes, rather than acting through an insulin-dependent mechanism, may modulate the risk of MM by acting as tumour suppressor genes (Duro et al 1995) or through mechanisms promoting cancer cell apoptosis (Rippe et al 2003, Turner et al 2013. In support of this idea, it has been recently reported that most of these genes are highly expressed in tumours and that genetic polymorphisms in these loci are also associated with cancer development (Sauroja et al 2000, Cander et al 2014) and tumour progression (Chen et al 2009).…”

Section: Endocrine-related Cancermentioning

confidence: 99%

Type 2 diabetes-related variants influence the risk of developing multiple myeloma: results from the IMMEnSE consortium

Lupiañez¹,

Campa²,

Martino³

et al. 2015

Endocrine-Related Cancer

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Type 2 diabetes (T2D) has been suggested to be a risk factor for multiple myeloma (MM), but the relationship between the two traits is still not well understood. The aims of this study were to evaluate whether 58 genome-wide-association-studies (GWAS)-identified common variants for T2D influence the risk of developing MM and to determine whether predictive models built with these variants might help to predict the disease risk. We conducted a case-control study including 1420 MM patients and 1858 controls ascertained through the International Multiple Myeloma (IMMEnSE) consortium. Subjects carrying the KCNQ1 rs2237892T allele or the CDKN2A-2B rs2383208G/G , IGF1 rs35767T/T and MADD rs7944584T/T genotypes had a significantly increased risk of MM (odds ratio (OR)Z1.32-2.13) whereas those carrying the KCNJ11 rs5215C , KCNJ11 rs5219T and THADA rs7578597C alleles or the FTO rs8050136A/A and LTA rs1041981C/C genotypes showed a significantly decreased risk of developing the disease (ORZ0.76-0.85). Interestingly, a prediction model including those T2D-related variants associated with the risk of MM showed a significantly improved discriminatory ability to predict the disease when compared to a model without genetic information (area under the curve (AUC)Z0.645 vs AUCZ0.629; PZ4.05! 10 K06). A gender-stratified analysis also revealed a significant gender effect modification for ADAM30 rs2641348 and NOTCH2 rs10923931 variants (P interaction Z0.001 and 0.0004, respectively). Men carrying the ADAM30 rs2641348C and NOTCH2 rs10923931T alleles had a significantly decreased risk of MM whereas an opposite but not significant effect was observed in women (OR M Z0.71 and OR M Z0.66 vs OR W Z1.22 and OR W Z1.15, respectively). These results suggest that TD2-related variants may influence the risk of developing MM and their genotyping might help to improve MM risk prediction models.

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“…It has been reported that many diseases are associated with the abnormal function of pre-mRNA, reflecting either alternative splicing defects or genetic mutations. As changes in alternative splicing patterns account for many human disorders, we observed that the MADD isoform of the IG20 gene is overexpressed in thyroid, breast, and ovarian cancer tissues and cell lines compared with non-tumor tissues [18][19][20] . Diseaseassociated or disease-specific mutation/s in a given gene is the leading cause of changes in the alternative splicing patterns of pre-mRNA.…”

Section: Alternative Splicing and Human Diseasesmentioning

confidence: 93%

Alternative splicing as a biomarker and potential target for drug discovery

Prabhakar

Hong

et al. 2015

Acta Pharmacol Sin

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Alternative splicing is a key process of multi-exonic gene expression during pre-mRNA maturation. In this process, particular exons of a gene will be included within or excluded from the final matured mRNA, and the resulting transcripts generate diverse protein isoforms. Recent evidence demonstrates that approximately 95% of human genes with multiple exons undergo alternative splicing during pre-mRNA maturation. Thus, alternative splicing plays a critical role in physiological processes and cell development programs, and.dysregulation of alternative splicing is highly associated with human diseases, such as cancer, diabetes and neurodegenerative diseases. In this review, we discuss the regulation of alternative splicing, examine the relationship between alternative splicing and human diseases, and describe several approaches that modify alternative splicing, which could aid in human disease diagnosis and therapy.

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MADD Knock-Down Enhances Doxorubicin and TRAIL Induced Apoptosis in Breast Cancer Cells

Cited by 28 publications

References 31 publications

Loss of Function of KCNC1 is associated with intellectual disability without seizures

Loss of Function of KCNC1 is associated with intellectual disability without seizures

Type 2 diabetes-related variants influence the risk of developing multiple myeloma: results from the IMMEnSE consortium

Alternative splicing as a biomarker and potential target for drug discovery

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