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#32473228   2020/05/27 To Up

Case of 15q26-qter deletion associated with a Prader-Willi phenotype.

Prader-Willi syndrome (PWS) is one of the common neurogenetic disorders associated with intellectual disability. PWS involves a complex inheritance pattern and is caused by an absence of gene expression on the paternally inherited 15q11.2-q13 region, either due to deletion, maternal uniparental disomy or imprinting defect. The syndrome is characterized principally by severe neonatal hypotonia, a weak suck in infancy that is later followed by hyperphagia and obesity, developmental delay, intellectual disability and short stature. In the case of the chromosome 15q26-qter deletion syndrome or Drayer's syndrome, very few reports have been published. Its characteristics include intrauterine growth restriction, postnatal growth failure, varying degrees of intellectual disability, developmental delay, typical facial appearance and diaphragmatic hernia. The present paper describes a female patient in whom clinical findings were suggestive of PWS and deletion in the 15q26-qter region. Both karyotyping and methylation-specific polymerase chain reaction were shown to be normal. Nevertheless, fluorescence in situ hybridization showed a 15qter deletion that was later mapped by single nucleotide polymorphism (SNP)-array. The deleted genomic region involves the insulin-like growth factor-1 receptor (IGF1R) gene, which is related to short stature, developmental delay and intellectual disability. This case had various clinical characteristics in common with the cases of 15q26-qter deletionand characteristics compatible with PWS.
Jéssica Fernandes Dos Santos, Angelina Xavier Acosta, Gabriela GayerScheibler, Paula Monique Leite Pitanga, Esmeralda Santos Alves, Joanna Goes Castro Meira, Évelin Aline Zanardo, Leslie Domenici Kulikowski, Renata Lúcia Leite Ferreira de Lima, Acácia Fernandes Lacerda de Carvalho

2964 related Products with: Case of 15q26-qter deletion associated with a Prader-Willi phenotype.



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#32473186   2020/05/27 To Up

The effects of GAMotion (a giant exercising board game) on physical capacity, motivation and quality of life among nursing home residents: A pilot interventional study.

In 2017, our team highlighted promising results of a giant exercising board game on physical activity level and a broader array of physical and psychological outcomes among nursing home residents. However, some improvements of this game were needed to make it more suitable for nursing homes and more challenging in terms of exercises. Therefore, we decided to develop a new version of a giant exercising board game: the GAMotion.
Fanny Buckinx, Olivier Bruyère, Laetitia Lengelé, Jean-Yves Reginster, Quentin Marchal, Paulin Hurtrez, Alexandre Mouton

1664 related Products with: The effects of GAMotion (a giant exercising board game) on physical capacity, motivation and quality of life among nursing home residents: A pilot interventional study.

100.00 ul96 wells (1 kit)100ug Lyophilized50 ug 1 g0.1 mg100tests100ug

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#32473160   2020/05/27 To Up

Dopamine D2 autoreceptor interactome: Targeting the receptor complex as a strategy for treatment of substance use disorder.

Dopamine D2 autoreceptors (DARs), located in somatodendritic and axon terminal compartments of dopamine (DA) neurons, function to provide a negative feedback regulatory control on DA neuron firing, DA synthesis, reuptake and release. Dysregulation of DAR-mediated DA signaling is implicated in vulnerability to substance use disorder (SUD). Due to the extreme low abundance of DARs compared to postsynaptic D receptors (DPRs) and the lack of experimental tools to differentiate the signaling of DARs from DPRs, the regulation of DARs by drugs of abuse is poorly understood. The recent availability of conditional DAR knockout mice and newly developed virus-mediated gene delivery approaches have provided means to specifically study the function of DARs at the molecular, cellular and behavioral levels. There is a growing revelation of novel mechanisms and new proteins that mediate DAR activity, suggesting that DARs act cooperatively with an array of membrane and intracellular proteins to tightly control DA transmission. This review highlights DAR-interacting partners including transporters, G-protein-coupled receptors, ion channels, intracellular signaling modulators, and protein kinases. The complexity of the DAR interaction network illustrates the functional divergence of DARs. Pharmacological targeting of multiple DAR-interacting partners may be more effective to restore disrupted DA homeostasis by drugs of abuse.
Rong Chen, Mark Ferris, Shiyu Wang

1354 related Products with: Dopamine D2 autoreceptor interactome: Targeting the receptor complex as a strategy for treatment of substance use disorder.

100 100 100 96 Tests100 100 assays50 assays100 μg100 100ug100 μg

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#32472659   2020/05/29 To Up

Management of periorbital hyperpigmentation- An overview of nature based agents and alternative approaches.

Periorbital hyperpigmentation is a common dermatological condition that presents as dark periorbital area beneath the lower eyelids and is commonly found in females belonging to the age group of 16-45 years. The data presented in this review includes studies conducted on patients with a clinical/ histological diagnosis of periorbital hyperpigmentation or melasma. Many diverse topical depigmenting agents comprising of an array of naturally obtained actives like arabinoxylans, α-arbutin, asiaticoside, azelaic acid, beta-carotene, boswellic acid, caffeine, chrysin, curcumin, cyanidin-3-glucoside, D-glucoronic acid,dihydrochalcone, dipalmitoyl-hydroxyprolene, fucoxanthin, genistein, glabridin, b-glucogallin, hyaluronic acid,lactic acid, lycopene, niacinamide, pycnogenol, retinol, salidroside, xymenynic acid demonstrated significant benefits in the management of periorbital hyperpigmentation. An exhaustive literature search revealed that other techniques like blepharoplasty, carboxytherapy, CaHA fillers, tear trough implant, QSRL, medicated tattoo, fat transfer, micro-needling, chemical peels, nitrogen plasma skin regeneration, intense pulsed light and radiofrequency have been evaluated and reported to be beneficial in the treatment of periorbital hyperpigmentation. The use of topical depigmenting agents is the most widely reported method in the clinical management of periorbital hyperpigmentation. Of these, α-arbutin, caffeine, cyanidin-3-glucoside, dihydrochalcone are reported to exhibit significant benefits. Combination products containing a blend of actives are reported to be better than single active containing products. This review aims to provide a comprehensive perspective on the role of several topical actives in the modulation of melanin and tyrosinase biosynthesis pathway involved in the complex pathophysiology of periorbital hyperpigmentation. It also presents the advantages of combination products and other alternative therapies used in the management of POH. This article is protected by copyright. All rights reserved.
Omkar Sawant, Tabassum Khan

1064 related Products with: Management of periorbital hyperpigmentation- An overview of nature based agents and alternative approaches.

5 G2.5 mg100ul10 mg100ug1,000 tests1 mg100 mg1000 tests50 ug 100ul

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#32472610   2020/05/29 To Up

Whole genome copy number analysis in search of new prognostic biomarkers in first line treatment of mantle cell lymphoma. A study by the LYSA group.

Mantle cell lymphoma (MCL) is a lymphoproliferative disorder characterized by the t(11;14)(q13;q32) CCND1/IGH translocation. This lymphoma is however extremely heterogeneous in terms of molecular alterations. Moreover, the course of the disease can vary greatly between indolent forms with slow progression and aggressive conditions rapidly pejorative. The identification of early markers allowing to predict individual patients outcome has however been unsuccessful so far. The LyMa trial treated homogeneously a cohort of young MCL patients. This appeared as a good opportunity to search for biomarkers of response to therapy. DNA extracted from diagnostic paraffin-embedded lymph node biopsies from 100 patients with newly diagnosed MCL, homogeneously treated in this prospective clinical trial, were investigated for copy number alterations and copy neutral loss of heterozygosity using the Oncoscan® SNP-array scanning the whole genome. An independent confirmatory cohort was used to strengthen the possibly relevant anomalies observed. Here we describe the recurrent anomalies identified with this technique. Deletions of 17p(TP53) and 9p(CDKN2A) were more frequent in refractory or early relapsing patients (10%), but had no significant impact in univariate analysis on progression-free (PFS) or overall survival (OS). Regardless of the presence of TP53 or CDKN2A deletions, gains in 7p22 (8,5%) were associated with better PFS in univariate but not in multivariate analysis including MCL International Prognostic Index and treatment. Gains of 11q(CCDN1), suggesting gains of the CCND1/IGH fusion, were associated with worse OS and PFS in univariate and multivariate analyses. This worse prognosis impact was confirmed by FISH in an independent confirmatory cohort. This work, using a whole genome approach, confirms the broad genomic landscape of MCL and shows that gains of the CCND1/IGH fusion can be considered as a new prognostic structural variant. Genomic abnormalities of prognostic impact could be useful to strengthen or de-escalate treatment schedules or choosing targeted therapies or CART-cells. This article is protected by copyright. All rights reserved.
Yannick Le Bris, Florence Magrangeas, Anne Moreau, David Chiron, Catherine Guérin-Charbonnel, Olivier Theisen, Olivier Pichon, Danielle Canioni, Barbara Burroni, Hervé Maisonneuve, Catherine Thieblemont, Lucie Oberic, Emmanuel Gyan, Catherine Pellat-Deceunynck, Olivier Hermine, Marie-Hélène Delfau-Larue, Benoît Tessoulin, Marie C Béné, Stéphane Minvielle, Steven Le Gouill

1170 related Products with: Whole genome copy number analysis in search of new prognostic biomarkers in first line treatment of mantle cell lymphoma. A study by the LYSA group.

1 mL1 mL 1 G100ug Lyophilized96 samples 1 G250 MG2 ml 25 MG

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#32472519   2020/05/30 To Up

Plasma Neurofilament Light Chain as a Translational Biomarker of Aging and Neurodegeneration in Dogs.

Age is a primary risk factor for multiple comorbidities including neurodegenerative diseases. Pet dogs and humans represent two populations that have experienced a significant increase in average life expectancy over the last century. A higher prevalence of age-related neurodegenerative diseases has been observed across both species, and human diseases, such as Alzheimer's disease (AD) and amyotrophic lateral sclerosis (ALS), have canine analogs, canine cognitive dysfunction (CCD), and degenerative myelopathy (DM) respectively. In humans, protein biomarkers have proved useful in the prediction and diagnosis of neurodegeneration. Molecular signatures of many proteins are highly conserved across species. In this study, we explored the potential of the neuronal cytoskeletal protein neurofilament light chain (NfL) as a biomarker of neuro-aging in dogs using an ultrasensitive single-molecule array assay to measure plasma concentrations. Healthy dogs of different ages and dogs affected with CCD and DM were evaluated. The mean plasma NfL concentrations in the different age groups of the healthy population were as follows: 4.55 ± 1.70 pg/mL in puppy/junior group (0.43-2 years), 13.51 ± 6.8 pg/mL in adult/mature group (2.1-9 years), and 47.1 ± 12.68 pg/mL in geriatric/senior group (9.3-14.5 years). Concentrations in dogs with DM (7.5-12.6 years) and CCD (11.0-15.6 years) were 84.17 ± 53.57 pg/mL and 100.73 ± 83.72 pg/mL, respectively. Plasma NfL increases in an age-dependent manner and is significantly elevated in dogs diagnosed with neurodegenerative disease. This work identified plasma NfL as a key clinical index of neuro-aging and neurodegeneration in pet dogs. Our findings mirror recent reports from human neurodegenerative diseases.
Wojciech K Panek, Margaret E Gruen, David M Murdoch, Robert D Marek, Alexandra F Stachel, Freya M Mowat, Korinn E Saker, Natasha J Olby

1700 related Products with: Plasma Neurofilament Light Chain as a Translational Biomarker of Aging and Neurodegeneration in Dogs.

100 μg100 ug 48 assays 1 ml1 mg100 assays100 assays1 ml1 ml20 ul (10 mM)1 mL

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#32472476   2020/05/29 To Up

Chromosomal Microarray Analysis Has a Poor Diagnostic Yield in Children with Developmental Delay/Intellectual Disability When Concurrent Cerebellar Anomalies Are Present.

Chromosomal microarray analysis is commonly used as screening test for children with neurodevelopmental issues, also in case of complex neurological phenotypes. Developmental delay/intellectual disability is a common presentation sign in pediatric ataxias, diseases with high clinical and genetic heterogeneity. In order to determine the diagnostic yield of Array-CGH in such conditions, all the tests performed in the last 10-year activity of a single referral center in children who present, besides the neurodevelopmental impairment, cerebellar abnormalities have been systematically gathered. The study demonstrates that, except for Dandy-Walker malformation or poly-malformative phenotypes, chromosomal microarray analysis should be discouraged as first-line diagnostic test in pediatric ataxias with neurodevelopmental disability.
Claudia Ciaccio, Chiara Pantaleoni, Sara Bulgheroni, Francesca Sciacca, Stefano D'Arrigo

2019 related Products with: Chromosomal Microarray Analysis Has a Poor Diagnostic Yield in Children with Developmental Delay/Intellectual Disability When Concurrent Cerebellar Anomalies Are Present.

case1 L.100 μg

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#32472393   2020/05/29 To Up

Knockdown of Amphiregulin Triggers Doxorubicin-Induced Autophagic and Apoptotic Death by Regulating Endoplasmic Reticulum Stress in Glioblastoma Cells.

Glioblastoma multiforme (GBM) is the most common type of malignant brain tumor. The present standard treatment for GBM has not been effective; therefore, the prognosis remains dramatically poor and prolonged survival after treatment is still limited. The new therapeutic strategies are urgently needed to improve the treatment efficiency. Doxorubicin (Dox) has been widely used in the treatment of many cancers for decades. In recent years, with the advancement of delivery technology, more and more research indicates that Dox has the opportunity to be used in the treatment of GBM. Amphiregulin (AREG), a ligand of the epidermal growth factor receptor (EGFR), has been reported to have oncogenic effects in many cancer cell types and is implicated in drug resistance. However, the biological function and molecular mechanism of AREG in Dox treatment of GBM are still unclear. Here, we demonstrate that knockdown of AREG can boost Dox-induced endoplasmic reticulum (ER) stress to trigger activation in both autophagy and apoptosis in GBM cells, ultimately leading to cell death. To explore the importance of AREG in the clinic, we used available bioinformatics tools and found AREG is highly expressed in GBM tumor tissues that are associated with poor survival. In addition, we also used antibody array analysis to dissect pathways that are likely to be activated by AREG. Taken together, our results revealed AREG can serve as a potential therapeutic target and a promising biomarker in GBM.
I-Neng Lee, Jen-Tsung Yang, Ming-Ju Hsieh, Cheng Huang, Hsiu-Chen Huang, Yu-Ju Ku, Yu-Ping Wu, Kuan-Chieh Huang, Jui-Chieh Chen

2569 related Products with: Knockdown of Amphiregulin Triggers Doxorubicin-Induced Autophagic and Apoptotic Death by Regulating Endoplasmic Reticulum Stress in Glioblastoma Cells.

100ul1.00 flask100ug Lyophilized5ug96T100ug Lyophilized10 ug100ul1x10e7 cells2 Pieces/Box96 tests

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#32472381   2020/05/29 To Up

Harsh Parenting Predicts Novel HPA Receptor Gene Methylation and NR3C1 Methylation Predicts Cortisol Daily Slope in Middle Childhood.

Adverse experiences in childhood are associated with altered hypothalamic-pituitary-adrenal (HPA) axis function and negative health outcomes throughout life. It is now commonly accepted that abuse and neglect can alter epigenetic regulation of HPA genes. Accumulated evidence suggests harsh parenting practices such as spanking are also strong predictors of negative health outcomes. We predicted harsh parenting at 2.5 years old would predict HPA gene DNA methylation similarly to abuse and neglect, and cortisol output at 8.5 years old. Saliva samples were collected three times a day across 3 days to estimate cortisol diurnal slopes. Methylation was quantified using the Illumina Infinium MethylationEPIC array BeadChip (850 K) with DNA collected from buccal cells. We used principal components analysis to compute a summary statistic for CpG sites across candidate genes. The first and second components were used as outcome variables in mixed linear regression analyses with harsh parenting as a predictor variable. We found harsh parenting significantly predicted methylation of several HPA axis genes, including novel gene associations with AVPRB1, CRHR1, CRHR2, and MC2R (FDR corrected p < 0.05). Further, we found NR3C1 methylation predicted a steeper diurnal cortisol slope. Our results extend the current literature by demonstrating harsh parenting may influence DNA methylation similarly to more extreme early life experiences such as abuse and neglect. Further, we show NR3C1 methylation is associated with diurnal HPA function. Elucidating the molecular consequences of harsh parenting on health can inform best parenting practices and provide potential treatment targets for common complex disorders.
Candace R Lewis, Reagan S Breitenstein, Adrienne Henderson, Hayley A Sowards, Ignazio S Piras, Matthew J Huentelman, Leah D Doane, Kathryn Lemery-Chalfant

1481 related Products with: Harsh Parenting Predicts Novel HPA Receptor Gene Methylation and NR3C1 Methylation Predicts Cortisol Daily Slope in Middle Childhood.

300 units100 ug100ug96 assays 100ug100ul8 inhibitors1000 100ul100ug100 μg

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#32472298   2020/05/30 To Up

Genome-wide miRNA profiling in plasma of pregnant women with down syndrome fetuses.

Down syndrome (DS) is one of the most common causes of intellectual disability and new approaches allowing its rapid and effective prenatal detection are being explored. In this study, we investigated the diagnostic potential of plasma microRNAs (miRNAs). This study builds upon our previous study in DS placentas, where seven miRNAs were found to be significantly up-regulated. A total of 70 first-trimester plasma samples from pregnant women were included in the present study (35 samples with DS fetuses; 35 with euploid fetuses). Genome-wide miRNA profiling was performed in the pilot study using Affymetrix GeneChip™ miRNA 4.1 Array Strips (18 samples). Selected miRNAs were then analysed in the validation study using quantitative reverse transcription PCR (RT-qPCR; 52 samples). Based on the current pilot study results (12 miRNAs), our previous research on chorionic villi samples (7 miRNAs) and the literature (4 miRNAs), a group of 23 miRNAs was selected for the validation study. Although the results of the pilot study were promising, the validation study using the more sensitive RT-qPCR technique and a larger group of samples revealed no significant differences in miRNA profiles between the compared groups. Our results suggest that testing of the first-trimester plasma miRNAs is probably not suitable for non-invasive prenatal testing (NIPT). Different results could be theoretically achieved at later gestational ages; however, such a result probably would have limited use in clinical practice.
Iveta Zedníková, Blanka Chylíková, Ondřej Šeda, Marie Korabečná, Eva Pazourková, Miroslav Břešťák, Miroslava Krkavcová, Pavel Calda, Aleš Hořínek

1373 related Products with: Genome-wide miRNA profiling in plasma of pregnant women with down syndrome fetuses.

100 μg96T1212

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