scholarly journals Transmission of an FMR1 premutation allele in a large family identified through newborn screening: the role of AGG interruptions

2013 ◽  
Vol 58 (8) ◽  
pp. 553-559 ◽  
Author(s):  
Carolyn M Yrigollen ◽  
Guadalupe Mendoza-Morales ◽  
Randi Hagerman ◽  
Flora Tassone
Keyword(s):  
Newborn Screening ◽  
Large Family ◽  
Fmr1 Premutation ◽  
Premutation Allele ◽  
Agg Interruptions

scholarly journals The Role of AGG Interruptions in the Transcription of FMR1 Premutation Alleles

PLoS ONE ◽  
2011 ◽  
Vol 6 (7) ◽  
pp. e21728 ◽  
Author(s):  
Carolyn M. Yrigollen ◽  
Federica Tassone ◽  
Blythe Durbin-Johnson ◽  
Flora Tassone
Keyword(s):  
Fmr1 Premutation ◽  
Agg Interruptions

MicroRNAs as Biomarker for Breast Cancer

2020 ◽  
Vol 20 (10) ◽  
pp. 1597-1610 ◽  
Author(s):  
Taru Aggarwal ◽  
Ridhima Wadhwa ◽  
Riya Gupta ◽  
Keshav Raj Paudel ◽  
Trudi Collet ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Association Studies ◽  
Large Family ◽  
Breast Cancer Diagnosis ◽  
Cell Multiplication ◽  
Cell Physiology ◽  
Gene Transcript ◽  
Genome Wide Association Studies ◽  
Non Coding Rnas

Regardless of advances in detection and treatment, breast cancer affects about 1.5 million women all over the world. Since the last decade, genome-wide association studies (GWAS) have been extensively conducted for breast cancer to define the role of miRNA as a tool for diagnosis, prognosis and therapeutics. MicroRNAs are small, non-coding RNAs that are associated with the regulation of key cellular processes such as cell multiplication, differentiation, and death. They cause a disturbance in the cell physiology by interfering directly with the translation and stability of a targeted gene transcript. MicroRNAs (miRNAs) constitute a large family of non-coding RNAs, which regulate target gene expression and protein levels that affect several human diseases and are suggested as the novel markers or therapeutic targets, including breast cancer. MicroRNA (miRNA) alterations are not only associated with metastasis, tumor genesis but also used as biomarkers for breast cancer diagnosis or prognosis. These are explained in detail in the following review. This review will also provide an impetus to study the role of microRNAs in breast cancer.

scholarly journals Histone Deacetylase Enzymes as Potential Drug Targets in Cancer and Parasitic Diseases

2006 ◽  
Vol 2006 ◽  
pp. 1-10 ◽  
Author(s):  
Mehdi Ouaissi ◽  
Ali Ouaissi
Keyword(s):  
Transcriptional Activation ◽  
Histone Deacetylases ◽  
Drug Targets ◽  
Large Family ◽  
Current Data ◽  
Functional Study ◽  
Parasitic Diseases ◽  
Antitumor Effects ◽  
Protozoan Infections

The elucidation of the mechanisms of transcriptional activation and repression in eukaryotic cells has shed light on the important role of acetylation-deacetylation of histones mediated by histone acetyltransferases (HATs) and histone deacetylases (HDACs), respectively. Another group belonging to the large family of sirtuins (silent information regulators (SIRs)) has an (nicotinamide adenine dinucleotide)NAD+-dependent HDAC activity. Several inhibitors of HDACs (HDIs) have been shown to exert antitumor effects. Interestingly, some of the HDIs exerted a broad spectrum of antiprotozoal activity. The purpose of this review is to analyze some of the current data related to the deacetylase enzymes as a possible target for drug development in cancer and parasitic diseases with special reference to protozoan infections. Given the structural differences among members of this family of enzymes, development of specific inhibitors will not only allow selective therapeutic intervention, but may also provide a powerful tool for functional study of these enzymes.

scholarly journals The role of AGG interruptions in fragile X repeat expansions: a twenty-year perspective

2014 ◽  
Vol 5 ◽  
Author(s):  
Gary J. Latham ◽  
Justine Coppinger ◽  
Andrew G. Hadd ◽  
Sarah L. Nolin
Keyword(s):  
Fragile X ◽  
Repeat Expansions ◽  
Agg Interruptions

scholarly journals The Long Non-Coding RNA H19 Drives the Proliferation of Diffuse Intrinsic Pontine Glioma with H3K27 Mutation

2021 ◽  
Vol 22 (17) ◽  
pp. 9165
Author(s):  
David Roig-Carles ◽  
Holly Jackson ◽  
Katie F. Loveson ◽  
Alan Mackay ◽  
Rebecca L. Mather ◽  
...  
Keyword(s):  
Large Family ◽  
Diffuse Intrinsic Pontine Glioma ◽  
Locked Nucleic Acid ◽  
Normal Brain ◽  
Pontine Glioma ◽  
Incurable Cancer ◽  
Non Coding Rna ◽  
Non Coding Rnas ◽  
Long Non Coding Rna

Diffuse intrinsic pontine glioma (DIPG) is an incurable paediatric malignancy. Identifying the molecular drivers of DIPG progression is of the utmost importance. Long non-coding RNAs (lncRNAs) represent a large family of disease- and tissue-specific transcripts, whose functions have not yet been elucidated in DIPG. Herein, we studied the oncogenic role of the development-associated H19 lncRNA in DIPG. Bioinformatic analyses of clinical datasets were used to measure the expression of H19 lncRNA in paediatric high-grade gliomas (pedHGGs). The expression and sub-cellular location of H19 lncRNA were validated in DIPG cell lines. Locked nucleic acid antisense oligonucleotides were designed to test the function of H19 in DIPG cells. We found that H19 expression was higher in DIPG vs. normal brain tissue and other pedHGGs. H19 knockdown resulted in decreased cell proliferation and survival in DIPG cells. Mechanistically, H19 buffers let-7 microRNAs, resulting in the up-regulation of oncogenic let-7 target (e.g., SULF2 and OSMR). H19 is the first functionally characterized lncRNA in DIPG and a promising therapeutic candidate for treating this incurable cancer.

scholarly journals β-glucuronidase mRNA levels are correlated with gait and working memory in premutation females: understanding the role of FMR1 premutation alleles

2016 ◽  
Vol 6 (1) ◽  
Author(s):  
C. M. Kraan ◽  
K. M. Cornish ◽  
Q. M. Bui ◽  
X. Li ◽  
H. R. Slater ◽  
...  
Keyword(s):  
Working Memory ◽  
Mrna Levels ◽  
Fmr1 Premutation

The role of orotic acid measurement in routine newborn screening for urea cycle disorders

2020 ◽  
Author(s):  
Orna Staretz‐Chacham ◽  
Suha Daas ◽  
Igor Ulanovsky ◽  
Ayala Blau ◽  
Nira Rostami ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Orotic Acid ◽  
Urea Cycle ◽  
Urea Cycle Disorders ◽  
Cycle Disorders

scholarly journals The Role of Extended CFTR Gene Sequencing in Newborn Screening for Cystic Fibrosis

2020 ◽  
Vol 6 (1) ◽  
pp. 23 ◽  
Author(s):  
Anne Bergougnoux ◽  
Maureen Lopez ◽  
Emmanuelle Girodon
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
Dna Analysis ◽  
Genetic Diseases ◽  
Major Drawback ◽  
Coding Regions ◽  
Sequencing Technologies ◽  
Second Tier ◽  
Real Challenge

There has been considerable progress in the implementation of newborn screening (NBS) programs for cystic fibrosis (CF), with DNA analysis being part of an increasing number of strategies. Thanks to advances in genomic sequencing technologies, CFTR-extended genetic analysis (EGA) by sequencing its coding regions has become affordable and has already been included as part of a limited number of core NBS programs, to the benefit of admixed populations. Based on results analysis of existing programs, the values and challenges of EGA are reviewed in the perspective of its implementation on a larger scale. Sensitivity would be increased at best by using EGA as a second tier, but this could be at the expense of positive predictive value, which improves, however, if EGA is applied after testing a variant panel. The increased detection of babies with an inconclusive diagnosis has proved to be a major drawback in programs using EGA. The lack of knowledge on pathogenicity and penetrance associated with numerous variants hinders the introduction of EGA as a second tier, but EGA with filtering for all known CF variants with full penetrance could be a solution. The issue of incomplete knowledge is a real challenge in terms of the implemention of NBS extended to many genetic diseases.

scholarly journals Toll-Like Receptors Regulate the Development and Progression of Renal Diseases

2020 ◽  
Vol 7 (1) ◽  
pp. 5-14
Author(s):  
Minghui Liu ◽  
Ke Zen
Keyword(s):  
Lupus Erythematosus ◽  
Ischemia Reperfusion Injury ◽  
Ischemia Reperfusion ◽  
Large Family ◽  
Renal Diseases ◽  
Toll Like Receptors ◽  
Endogenous Ligands ◽  
Rna Complex ◽  
Promote Disease Progression

<b><i>Background:</i></b> Stimulated by both microbial and endogenous ligands, toll-like receptors (TLRs) play an important role in the development and progression of renal diseases. <b><i>Summary:</i></b> As a highly conserved large family, TLRs have 11 members in humans (TLR1∼TLR11) and 13 members in mouse (TLR1∼TLR13). It has been widely reported that TLR2 and TLR4 signaling, activated by both exogenous and endogenous ligands, promote disease progression in both renal ischemia-reperfusion injury and diabetic nephropathy. TLR4 also vitally functions in CKD and infection-associated renal diseases such as pyelonephritis induced by urinary tract infection. Stimulation of intracellular TLR7/8 and TLR9 by host-derived nucleic acids also plays a key role in systemic lupus erythematosus. Given that certain microRNAs with GU-rich sequence have recently been found to be able to serve as TLR7/8 ligands, these microRNAs may initiate pro-inflammatory signal via activating TLR signal. Moreover, as microRNAs can be transferred across different organs via cell-secreted exosomes or protein-RNA complex, the TLR signaling activated by the miRNAs released by other injured organs may also result in renal dysfunction. <b><i>Key Messages:</i></b> In this review, we sum up the recent progress in the role of TLRs in various forms of glomerulonephritis and discuss the possible prevention or therapeutic strategies for clinic treatment to renal diseases.

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