Search results for "Cases"
showing 10 items of 124 documents
Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.
2020
Summary De novo germline mutations in the RNA helicase DDX3X account for 1%–3% of unexplained intellectual disability (ID) cases in females and are associated with autism, brain malformations, and epilepsy. Yet, the developmental and molecular mechanisms by which DDX3X mutations impair brain function are unknown. Here, we use human and mouse genetics and cell biological and biochemical approaches to elucidate mechanisms by which pathogenic DDX3X variants disrupt brain development. We report the largest clinical cohort to date with DDX3X mutations (n = 107), demonstrating a striking correlation between recurrent dominant missense mutations, polymicrogyria, and the most severe clinical outcom…
Insights into the inhibited form of the redox-sensitive SufE-like sulfur acceptor CsdE
2017
17 p.-8 fig.
DICER- and MMSET-catalyzed H4K20me2 recruits the nucleotide excision repair factor XPA to DNA damage sites
2017
The endoribonuclease DICER facilitates chromatin decondensation during lesion recognition following UV exposure. Chitale and Richly show that DICER mediates the recruitment of the methyltransferase MMSET, which catalyzes the dimethylation of histone H4 at lysine 20 and facilitates the recruitment of the nucleotide excision repair factor XPA.
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
2020
Contains fulltext : 218274.pdf (Publisher’s version ) (Closed access) Genetic syndromes frequently present with overlapping clinical features and inconclusive or ambiguous genetic findings which can confound accurate diagnosis and clinical management. An expanding number of genetic syndromes have been shown to have unique genomic DNA methylation patterns (called "episignatures"). Peripheral blood episignatures can be used for diagnostic testing as well as for the interpretation of ambiguous genetic test results. We present here an approach to episignature mapping in 42 genetic syndromes, which has allowed the identification of 34 robust disease-specific episignatures. We examine emerging pa…
Lack of evidence of mimivirus replication in human PBMCs
2018
The Acanthamoeba polyphaga mimivirus (APMV) was first isolated during a pneumonia outbreak in Bradford, England, and since its discovery many research groups devoted efforts to understand whether this virus could be associated to human diseases, in particular clinical signs and symptoms of pneumonia. In 2013, we observed cytopathic effect in amoebas (rounding and lysis) inoculated with APMV inoculated PBMCs (peripheral blood mononuclear cell) extracts, and at that point we interpreted those results as mimivirus replication in human PBMCs. Based on these results we decided to further investigate APMV replication in human PBMCs, by transmission electron microscopy (TEM) and qPCR. No viral fac…
Discriminación indirecta por pertenencia a minoría nacional : denegación de prestación de viudedad en el caso de matrimonio celebrado según el rito g…
2021
The commented sentence rejects that the Muñoz Díaz doctrine is applicable to all cases of gypsy marriage. In addition, it considers that the denial of effects to the union celebrated according to said rite is not discriminatory. This conclusion is discussed, understanding that the analysis of the singularities of the gypsy people must lead to the conclusion of the existence of indirect discrimination.
Determinación de la edad de un extranjero indocumentado : A propósito de la sentencia de la audiencia provincial de barcelona, de 24 de enero de 2020
2021
In recent years, immigration of minors has increased, which means that administrations establish a differentiated treatment for this sector of immigration due to the fact that they are minors; There are many aspects to take into account in these cases, including verifying the minority age, a fact that is more complicated when it comes to adolescents. This is what is analyzed by the Judgment of the Provincial Court of Barcelona, of January 24, 2020, which confirms the Resolution of the General Directorate of Attention to Children and Adolescents, which agreed to the closure of the homelessness file and the admission of the plaintiff in a Protection Center until the verification of their pers…
Italian assisted negotiation: an additional tool to settle matrimonial property regime cases
2021
The assisted negotiation procedure highlighted the need to distinguish the various forms of justice in view to obtaining decisions that can effectively satisfy the interests of the family. In fact the agreements who discipline the family conflicts attributes a central role to the will of the couple in the collaborative search for suitable solutions for the management of the crisis of the emotional bond.
La sentencia y su ejecución en el proyecto dominicano de ley sobre control judicial de la administración pública
2021
The regime of the execution of the sentence is analyzed, starting from the powers of declarative and executive substitution of the contentious-administrative judge. It begins with the reference to the constitutional guidelines of the administrative process. Then, the different modalities of judicial substitution are described in the types of sentences (declarative, constitutive and conviction) regulated in the project, to then refer to the regime of executive seizure of public goods. It ends by describing: the powers granted to the judge to agree indirect measures that assist with the execution of the judgment, the cases of impossibility of execution and the extension of the sentence to thi…
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder
2020
BackgroundThe regulation of the chromatin state by epigenetic mechanisms plays a central role in gene expression, cell function, and maintenance of cell identity. Hereditary disorders of chromatin regulation are a group of conditions caused by abnormalities of the various components of the epigenetic machinery, namely writers, erasers, readers, and chromatin remodelers. Although neurological dysfunction is almost ubiquitous in these disorders, the constellation of additional features characterizing many of these genes and the emerging clinical overlap among them indicate the existence of a community of syndromes. The introduction of high-throughput next generation sequencing (NGS) methods f…