cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.5121244.v1
title: Supplementary Material for: Efficacy of Desloratadine in Persistent Allergic Rhinitis – A GA<sup>2</sup>LEN Study

description: <i>Background:</i> The ARIA (Allergic Rhinitis and its Impact on Asthma) guidelines proposed a classification for allergic rhinitis based on the duration of symptoms (intermittent or persistent) rather than on the time of allergen exposure (seasonal or perennial). There had been no placebo-controlled, randomized, clinical trial of desloratadine (DL) in patients with persistent allergic rhinitis to date. <i>Objectives:</i> To assess the efficacy and safety of DL in patients with persistent allergic rhinitis based on the ARIA classification. <i>Methods:</i> Patients 12 years of age and older with persistent allergic rhinitis were assessed over 85 days of treatment with DL 5 mg once daily (n = 360) or placebo (n = 356). The primary endpoint was the AM/PM reflective total 5-symptom score (T5SS) averaged over days 1–29. Secondary endpoints included AM/PM instantaneous T5SS and individual symptoms, therapeutic response, symptom severity assessed by a visual analogue scale and quality of life. <i>Results:</i> The mean reduction in AM/PM reflective T5SS was significantly greater with DL than placebo over days 1–29 (–3.76 vs. –2.87, p &lt; 0.001) and on each individual day (p &lt; 0.05). The mean AM instantaneous T5SS was significantly reduced with DL compared with placebo as early as day 2 (–1.90 vs. –1.46; p &lt; 0.001). The therapeutic response and improvement in quality of life were significantly greater with DL than placebo (p &lt; 0.001 for each). The frequency of treatment-related adverse events was low and similar between DL (10.0%) and placebo (8.4%). <i>Conclusions:</i> This study showed DL to be effective and safe in the treatment of persistent allergic rhinitis.
DOI: 10.6084/m9.figshare.5121229
title: Supplementary Material for: MeCP2<sup>270</sup> Mutant Protein Is Expressed in Astrocytes as well as in Neurons and Localizes in the Nucleus

description: The <i>MECP2</i> gene, located at Xq28, encodes methyl-CpG-binding protein 2 (MeCP2), which is frequently mutated (up to 90%) in Rett syndrome (RTT). RTT is a progressive neurodevelopmental disorder, which affects primarily girls during early childhood and it is one of the most common causes of mental retardation in females. R270X is one of the most frequent recurrent <i>MECP2</i> mutations among RTT cohorts. The R270X mutation resides within the TRD-NLS (Transcription Repression Domain-Nuclear Localization Signal) region of MeCP2 and causes a more severe clinical phenotype with increased mortality as compared to other mutations. To evaluate the functional role of the R270X mutation, we generated a transgenic mouse model expressing MeCP2<sup>270_EGFP</sup> (human mutation equivalent) by BAC recombineering. The expression pattern of MeCP2<sup>270_EGFP</sup> was similar to that of endogenous MeCP2. Strikingly, MeCP2<sup>270_EGFP</sup> localizes in the nucleus, contrary to the conjecture that R270X could cause disruption of the NLS. In primary hippocampal cells, we show that MeCP2<sup>270_EGFP</sup> was expressed in astrocytes by colocalization with the astrocyte-specific marker glial fibrillary acidic protein. Our data showing expression of MeCP2<sup>270_EGFP</sup> in transgenic mice astrocytes further reinforce the recent findings concerning the expression of MeCP2 in the glial cells.
DOI: 10.6084/m9.figshare.5121232
title: Supplementary Material for: The Endothelial Nitric Oxide Synthase Gene Is Associated with Coronary Artery Disease: A Meta-Analysis

description: <i>Introduction:</i> Previous case-control studies have suggested that the endothelial nitric oxide synthase <i>(eNOS)</i> gene polymorphisms (G894T, 4b/a, T-786C) are associated with coronary artery disease (CAD). However, other studies do not confirm these relationships. The objective was to assess these relationships using meta-analysis. <i>Methods:</i> Databases, including Pubmed and Embase, were searched to access the relevant genetic association studies up to July 2009. <i>Results:</i> The meta-analysis included 56 studies, consisting of 23 studies for G894T, 19 for 4b/a and 14 for T-786C. For the allelic analysis of the G894T variant, all studies showed a positively significant association (OR = 0.83, p = 0.004). For the genotypic analysis, the combined studies of the T allele showed significance (OR = 1.57, p = 0.003). For the allelic analysis of the T-786C variant, all studies showed an obviously significant association (OR = 0.79, p = 0.0007), reflected in both non-Asian and Asian studies. For the genotype analysis, combined studies of the C allele showed significance (OR = 0.72, p = 0.0001). Moreover, non-Asian studies showed significant results. For the analysis of the 4b/a variant, none of the studies showed significant results. No publication bias was found in the meta-analysis. <i>Conclusion:</i> The synthesis of available evidence supports the fact that <i>eNOS</i> G894T andT-786C are associated with CAD.
DOI: 10.6084/m9.figshare.5121235
title: Supplementary Material for: Evaluation of the Symptomatic Treatment of Residual Neurological Symptoms in Wilson Disease

description: The intention of this analysis was to identify patients with treated Wilson disease (WD) and residual neurological symptoms in order to determine whether or not they were undergoing any treatment in addition to the common decoppering medication. Moreover, the effects of any symptomatic medication were analyzed. Two samples of WD patients were investigated either by a mailed questionnaire survey (n = 135) or by a retrospective analysis (n = 75). A considerable proportion of patients still suffered from neurological symptoms (n = 106, 50.5%), of whom a relatively small proportion was treated symptomatically (n = 33, 31.1%). The documented effects varied substantially, with anticholinergics and botulinum toxin (against dystonia) and primidone (against tremor) apparently being the most promising compounds. Further studies are required to analyze the symptomatic treatment of WD patients with residual neurological symptoms in more detail.
DOI: 10.6084/m9.figshare.5121229.v1
title: Supplementary Material for: MeCP2<sup>270</sup> Mutant Protein Is Expressed in Astrocytes as well as in Neurons and Localizes in the Nucleus

description: The <i>MECP2</i> gene, located at Xq28, encodes methyl-CpG-binding protein 2 (MeCP2), which is frequently mutated (up to 90%) in Rett syndrome (RTT). RTT is a progressive neurodevelopmental disorder, which affects primarily girls during early childhood and it is one of the most common causes of mental retardation in females. R270X is one of the most frequent recurrent <i>MECP2</i> mutations among RTT cohorts. The R270X mutation resides within the TRD-NLS (Transcription Repression Domain-Nuclear Localization Signal) region of MeCP2 and causes a more severe clinical phenotype with increased mortality as compared to other mutations. To evaluate the functional role of the R270X mutation, we generated a transgenic mouse model expressing MeCP2<sup>270_EGFP</sup> (human mutation equivalent) by BAC recombineering. The expression pattern of MeCP2<sup>270_EGFP</sup> was similar to that of endogenous MeCP2. Strikingly, MeCP2<sup>270_EGFP</sup> localizes in the nucleus, contrary to the conjecture that R270X could cause disruption of the NLS. In primary hippocampal cells, we show that MeCP2<sup>270_EGFP</sup> was expressed in astrocytes by colocalization with the astrocyte-specific marker glial fibrillary acidic protein. Our data showing expression of MeCP2<sup>270_EGFP</sup> in transgenic mice astrocytes further reinforce the recent findings concerning the expression of MeCP2 in the glial cells.
DOI: 10.6084/m9.figshare.5121238
title: Supplementary Material for: Effects of Antenatal Steroid Therapy on Neurodevelopment in an IUGR Mouse Model

description: <i>Background/Objective:</i> To investigate the neurodevelopmental response in postnatal mice secondary to antenatal steroid treatment in association with maternal protein restriction. <i>Methods:</i> C57BL/6N pregnant mice (n = 24; 4 per treatment group) were administered control (C) or protein-restricted (PR) diets and subjected to daily subcutaneous injection stress during late gestation (E10–E17) with either 100 µl/kg of dexamethasone sodium phosphate in normosaline (C-D/S, PR-D/S) or normosaline alone (C-S, PR-S). Non-treatment groups were also included (C, PR). Brain samples of pups were collected on postnatal day 7 and analyzed by immunohistochemistry and qRT-PCR. <i>Results:</i> Neonatal weights in the treatment groups were smaller than their counterparts in the C group, but there were no significant differences in brain size. Immunohistochemical evaluation of neuroglial cells revealed a pronounced effect of protein restriction on oligodendrocytes and oligodendrocyte precursor cells with distinct fetal responses to stress and dexamethasone. Further evaluation using quantitative RNA analysis showed significant activation of <i>Galr1</i>, <i>Galr2</i>, <i>Igfbp-1</i>,<i> Igfbp-3</i>, <i>Igfbp-6</i>, and <i>Fgf2</i> by 1- to 2.5-fold in the PR-D/S group and by much higher increments, 1- to 10.5-fold, in the PR-S group. <i>Conclusion:</i> This preliminary investigation revealed the possible role of dexamethasone in further increasing vulnerability to cell damage in injury-prone neuroglial cells. The distribution of key glial markers and the overexpression of several neurotrophic factors depicted ongoing cellular adaptation.
DOI: 10.6084/m9.figshare.5121226
title: Supplementary Material for: Recurrent Inversion Events at 17q21.31 Microdeletion Locus Are Linked to the <i>MAPT</i> H2 Haplotype

description: The chromosomal band 17q21.31, containing the microtubule-associated protein tau <i>(MAPT)</i> gene, is a hotspot for chromosomal rearrangements. It is known to contain a common inversion polymorphism of approximately 900 kb in populations with European ancestry. The inverted configuration is linked to a distinct <i>MAPT</i> haplotype, H2, which is relatively common in Europeans but nearly absent in Asian and African populations. Recent studies have demonstrated that the H2 haplotype is ancestral in hominoids, and under positive selection in Europeans. This haplotype is also linked to events leading to the 17q21.31 microdeletion syndrome, one of the most common causes of ‘idiopathic’ mental retardation in people of European descent. We performed direct analysis of the chromosome structure by fluorescence in situ hybridization and observed heterozygosity of the inversion status for the H2 chromosomes, but not for the H1 haplotype. Inversion heterozygosity was also observed in a mother homozygous for the H2 haplotype, who transmitted the chromosome with the deletion to a proband with 17q21.31 microdeletion syndrome. Our results highlight an allele-specific sensitivity to chromosome rearrangements and suggest that it is the heterozygosity of inversion status that predisposes to the 17q21.31 microdeletion syndrome.
DOI: 10.6084/m9.figshare.5121232.v1
title: Supplementary Material for: The Endothelial Nitric Oxide Synthase Gene Is Associated with Coronary Artery Disease: A Meta-Analysis

description: <i>Introduction:</i> Previous case-control studies have suggested that the endothelial nitric oxide synthase <i>(eNOS)</i> gene polymorphisms (G894T, 4b/a, T-786C) are associated with coronary artery disease (CAD). However, other studies do not confirm these relationships. The objective was to assess these relationships using meta-analysis. <i>Methods:</i> Databases, including Pubmed and Embase, were searched to access the relevant genetic association studies up to July 2009. <i>Results:</i> The meta-analysis included 56 studies, consisting of 23 studies for G894T, 19 for 4b/a and 14 for T-786C. For the allelic analysis of the G894T variant, all studies showed a positively significant association (OR = 0.83, p = 0.004). For the genotypic analysis, the combined studies of the T allele showed significance (OR = 1.57, p = 0.003). For the allelic analysis of the T-786C variant, all studies showed an obviously significant association (OR = 0.79, p = 0.0007), reflected in both non-Asian and Asian studies. For the genotype analysis, combined studies of the C allele showed significance (OR = 0.72, p = 0.0001). Moreover, non-Asian studies showed significant results. For the analysis of the 4b/a variant, none of the studies showed significant results. No publication bias was found in the meta-analysis. <i>Conclusion:</i> The synthesis of available evidence supports the fact that <i>eNOS</i> G894T andT-786C are associated with CAD.
DOI: 10.6084/m9.figshare.5121235.v1
title: Supplementary Material for: Evaluation of the Symptomatic Treatment of Residual Neurological Symptoms in Wilson Disease

description: The intention of this analysis was to identify patients with treated Wilson disease (WD) and residual neurological symptoms in order to determine whether or not they were undergoing any treatment in addition to the common decoppering medication. Moreover, the effects of any symptomatic medication were analyzed. Two samples of WD patients were investigated either by a mailed questionnaire survey (n = 135) or by a retrospective analysis (n = 75). A considerable proportion of patients still suffered from neurological symptoms (n = 106, 50.5%), of whom a relatively small proportion was treated symptomatically (n = 33, 31.1%). The documented effects varied substantially, with anticholinergics and botulinum toxin (against dystonia) and primidone (against tremor) apparently being the most promising compounds. Further studies are required to analyze the symptomatic treatment of WD patients with residual neurological symptoms in more detail.
DOI: 10.6084/m9.figshare.5121220
title: Supplementary Material for: Reciprocal Translocation t(4;7)(q14;q28) in Cattle: Molecular Characterization

description: Cytogenetic analysis of a phenotypically normal young bull from the Marchigiana breed revealed the presence of an abnormal chromosome. The finding of one oversize chromosome in all metaphases, associated with a 2n = 60, XY karyotype, suggested that a reciprocal translocation had occurred. RBG-banding and FISH analyses, using specific bovine BAC probes, identified a de novo reciprocal translocation t(4;7)(q14;q28). The presence of rcp(4;7) was confirmed by FISH experiments using BTA4 and BTA7 whole chromosome probes. An array-CGH analysis (Agilent 244A) using a bovine custom design was performed to investigate if the translocation was associated with loss or gain of genetic material. The absence of a concomitant deletion or duplication at the break points allowed the balanced state of the translocation to establish. The analysis also revealed the presence of several CNVs throughout the genome. To our knowledge this is the first time the balanced condition of a cattle RCP has been ascertained using the array-CGH approach.
DOI: 10.6084/m9.figshare.5121223
title: Supplementary Material for: An Analysis of Histone Modifications in Relation to Sex-Specific Chromatin Organization in the Mealybug <i>Maconellicoccus hirsutus</i>

description: The male-specific heterochromatization of the paternal genome, observed in coccids, is an example of both genomic imprinting and differential regulation of homologous chromosomes. We observed a highly nuclease-resistant chromatin (NRC) organization of a part of the paternal genome in males of <i>Maconellicoccus hirsutus</i> as reported earlier in <i>Planococcus lilacinus</i>. The nuclease resistance of NRC is correlated with nuclear matrix association and is lost when NRC is dissociated from the matrix. We carried out a comparative analysis of epigenetic modifications of histones in matrix associated chromatin of male and female mealybugs by ELISA. We detected H3K27me3, H4K20me3, H3K9me2 and H3K4me3 in both males and females and observed significant enrichment of H3K27me3 in the nuclear matrix of males compared to that of females. To further examine the presence of NRC in the germ line, nuclei were sorted based on chromatin compaction. The analysis of sorted nuclei indicates the presence of NRC in nuclei with different DNA content including the haploid nuclei from males. We discuss these results in the light of the presence of NRC exclusively in male nuclei and the retention of the maternal genome in sperm nuclei of mealybugs.
DOI: 10.6084/m9.figshare.5121220.v1
title: Supplementary Material for: Reciprocal Translocation t(4;7)(q14;q28) in Cattle: Molecular Characterization

description: Cytogenetic analysis of a phenotypically normal young bull from the Marchigiana breed revealed the presence of an abnormal chromosome. The finding of one oversize chromosome in all metaphases, associated with a 2n = 60, XY karyotype, suggested that a reciprocal translocation had occurred. RBG-banding and FISH analyses, using specific bovine BAC probes, identified a de novo reciprocal translocation t(4;7)(q14;q28). The presence of rcp(4;7) was confirmed by FISH experiments using BTA4 and BTA7 whole chromosome probes. An array-CGH analysis (Agilent 244A) using a bovine custom design was performed to investigate if the translocation was associated with loss or gain of genetic material. The absence of a concomitant deletion or duplication at the break points allowed the balanced state of the translocation to establish. The analysis also revealed the presence of several CNVs throughout the genome. To our knowledge this is the first time the balanced condition of a cattle RCP has been ascertained using the array-CGH approach.
DOI: 10.6084/m9.figshare.5121226.v1
title: Supplementary Material for: Recurrent Inversion Events at 17q21.31 Microdeletion Locus Are Linked to the <i>MAPT</i> H2 Haplotype

description: The chromosomal band 17q21.31, containing the microtubule-associated protein tau <i>(MAPT)</i> gene, is a hotspot for chromosomal rearrangements. It is known to contain a common inversion polymorphism of approximately 900 kb in populations with European ancestry. The inverted configuration is linked to a distinct <i>MAPT</i> haplotype, H2, which is relatively common in Europeans but nearly absent in Asian and African populations. Recent studies have demonstrated that the H2 haplotype is ancestral in hominoids, and under positive selection in Europeans. This haplotype is also linked to events leading to the 17q21.31 microdeletion syndrome, one of the most common causes of ‘idiopathic’ mental retardation in people of European descent. We performed direct analysis of the chromosome structure by fluorescence in situ hybridization and observed heterozygosity of the inversion status for the H2 chromosomes, but not for the H1 haplotype. Inversion heterozygosity was also observed in a mother homozygous for the H2 haplotype, who transmitted the chromosome with the deletion to a proband with 17q21.31 microdeletion syndrome. Our results highlight an allele-specific sensitivity to chromosome rearrangements and suggest that it is the heterozygosity of inversion status that predisposes to the 17q21.31 microdeletion syndrome.
DOI: 10.6084/m9.figshare.5121214
title: Supplementary Material for: Global Transcriptional Analysis of <i>Bacillus licheniformis</i> Reveals an Overlap between Heat Shock and Iron Limitation Stimulon

description: In this study, we characterized the heat shock stimulon of the important industrial microorganism <i>Bacillus licheniformis</i> using DNA microarrays. While sharing a high degree of homology with the closely related model organism <i>Bacillus subtilis</i>, the heat shock stimulon of <i>B. licheniformis</i> exhibited several novel and unexpected features. Most notably, heat shock in <i>B. licheniformis</i> resulted in decreased amounts of mRNA from the <i>ytrABCEF</i> operon, encoding a putative acetoin uptake system, and stimulated the transcription of purine biosynthesis and iron uptake genes. Unexpectedly, deletion of the <i>ytrEF</i> genes did not affect acetoin uptake, but increased heat sensitivity. To investigate the connection between heat stress and iron uptake further, we analyzed the iron limitation response of <i>B. licheniformis</i> by DNA microarrays and concluded that the response mostly involves the genes related to iron uptake and metabolism, while the only heat shock gene affected by iron limitation was <i>clpE</i>. We also attempted to delete the <i>fur </i>gene (encoding the ferric uptake repressor), but unexpectedly found it to be essential in <i>B. licheniformis</i>. Using the fluorescent protein-encoding reporter gene under control of the <i>dhb </i>promoter, which responded to both heat shock and iron-starvation, we confirmed the overlap between these responses.
DOI: 10.6084/m9.figshare.5121217
title: Supplementary Material for: Associations between Genetic Variants in the <i>ACE</i>, <i>AGT</i>, <i>AGTR1</i> and <i>AGTR2</i> Genes and Renal Function in the Multi-Ethnic Study of Atherosclerosis

description: <i>Background/Aims:</i> Some studies suggest that polymorphisms in angiotensin-converting enzyme (ACE), angiotensinogen (AGT), angiotensin II type I receptor (AGTR1) and angiotensin II type II receptor (AGTR2) genes may contribute to renal function variation. <i>Methods:</i> Genotyping for single nucleotide polymorphisms (SNPs) in these candidate genes was performed in 2,847 participants from four racial/ethnic groups (African American, Chinese, White and Hispanic) without known cardiovascular disease in the Multi-Ethnic Study of Atherosclerosis. SNP and haplotype analyses were performed to determine associations between genotypes and cross-sectional renal function measurements, including urine albumin excretion (UAE) and estimated glomerular filtration rate (eGFR) using serum creatinine and cystatin C. <i>Results:</i> Twenty-four ACE SNPs, 10 AGT SNPs, 15 AGTR1 SNPs and 6 AGTR2 SNPs were typed successfully. After adjusting for ancestry, age and gender, 3 SNPs (AGT M235T, AGT rs2148582 and AGTR1 rs2131127) showed associations with an empiric p value &lt;0.05 with the same phenotype in multiple racial/ethnic groups, suggesting replication. The AGT M235T SNP has been shown previously to be associated with diabetic and hypertensive nephropathy.<i> Conclusions:</i> These data suggest that genetic polymorphisms in the renin-angiotensin system are associated with renal phenotypes in the general population, but that many associations differ across racial/ethnic groups.