Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Alpha vs. gamma sarcoglycanopathy: DNA tests solve a case from Argentina.

ABSTRACT: Immunohistochemical and DNA results are described in a patient with sarcoglycanopathy. Immunostaining was comparatively normal for alpha-, attenuated for beta- and delta-, and markedly attenuated for gamma-sarcoglycan, thus sarcoglycanopathy was diagnosed, presumably a gamma-sarcoglycanopathy. Unexpectedly, two alpha-SGP-related pathogenic mutations were identified in compound heterozygosity in the SGCA gene: c.229C > T (p.Arg77Cys) in exon 3 and c.850C > T (p.Arg284Cys) in exon 7. These are discussed together with six additional changes detected in SGCB, SGCG and SGCD.

SUBMITTER: Avila De Salman S

PROVIDER: S-EPMC2949580 | biostudies-literature | 2007 Oct

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

Alpha vs. gamma sarcoglycanopathy: DNA tests solve a case from Argentina.

Avila De Salman S S Taratuto A L AL Dekomien G G Carrero-Valenzuela R R

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 20071001 2

Immunohistochemical and DNA results are described in a patient with sarcoglycanopathy. Immunostaining was comparatively normal for alpha-, attenuated for beta- and delta-, and markedly attenuated for gamma-sarcoglycan, thus sarcoglycanopathy was diagnosed, presumably a gamma-sarcoglycanopathy. Unexpectedly, two alpha-SGP-related pathogenic mutations were identified in compound heterozygosity in the SGCA gene: c.229C > T (p.Arg77Cys) in exon 3 and c.850C > T (p.Arg284Cys) in exon 7. These are dis ...[more]

PMID: 18421900

Similar Datasets

Idealized vs. Realistic Microstructures: An Atomistic Simulation Case Study on γ/γ' Microstructures.

Project description:Single-crystal Ni-base superalloys, consisting of a two-phase γ/ γ ' microstructure, retain high strengths at elevated temperatures and are key materials for high temperature applications, like, e.g., turbine blades of aircraft engines. The lattice misfit between the γ and γ ' phases results in internal stresses, which significantly influence the deformation and creep behavior of the material. Large-scale atomistic simulations that are often used to enhance our understanding of the deformation mechanisms in such materials must accurately account for such misfit stresses. In this work, we compare the internal stresses in both idealized and experimentally-informed, i.e., more realistic, γ/ γ ' microstructures. The idealized samples are generated by assuming, as is frequently done, a periodic arrangement of cube-shaped γ ' particles with planar γ/ γ ' interfaces. The experimentally-informed samples are generated from two different sources to produce three different samples-the scanning electron microscopy micrograph-informed quasi-2D atomistic sample and atom probe tomography-informed stoichiometric and non-stoichiometric atomistic samples. Additionally, we compare the stress state of an idealized embedded cube microstructure with finite element simulations incorporating 3D periodic boundary conditions. Subsequently, we study the influence of the resulting stress state on the evolution of dislocation loops in the different samples. The results show that the stresses in the atomistic and finite element simulations are almost identical. Furthermore, quasi-2D boundary conditions lead to a significantly different stress state and, consequently, different evolution of the dislocation loop, when compared to samples with fully 3D boundary conditions.

| S-EPMC5344587 | biostudies-literature

Cost-Effective Method to Perform SARS-CoV-2 Variant Surveillance: Detection of Alpha, Gamma, Lambda, Delta, Epsilon, and Zeta in Argentina.

Project description:SARS-CoV-2 variants with concerning characteristics have emerged since the end of 2020. Surveillance of SARS-CoV-2 variants was performed on a total of 4,851 samples from the capital city and 10 provinces of Argentina, during 51 epidemiological weeks (EWs) that covered the end of the first wave and the ongoing second wave of the COVID-19 pandemic in the country (EW 44/2020 to EW 41/2021). The surveillance strategy was mainly based on Sanger sequencing of a Spike coding region that allows the identification of signature mutations associated with variants. In addition, whole-genome sequences were obtained from 637 samples. The main variants found were Gamma and Lambda, and to a lesser extent, Alpha, Zeta, and Epsilon, and more recently, Delta. Whereas, Gamma dominated in different regions of the country, both Gamma and Lambda prevailed in the most populated area, the metropolitan region of Buenos Aires. The lineages that circulated on the first wave were replaced by emergent variants in a term of a few weeks. At the end of the ongoing second wave, Delta began to be detected, replacing Gamma and Lambda. This scenario is consistent with the Latin American variant landscape, so far characterized by a concurrent increase in Delta circulation and a stabilization in the number of cases. The cost-effective surveillance protocol presented here allowed for a rapid response in a resource-limited setting, added information on the expansion of Lambda in South America, and contributed to the implementation of public health measures to control the disease spread in Argentina.

| S-EPMC8703000 | biostudies-literature

Warfarin resistance: possibilities to solve this problem. A case report.

Project description:Effective prevention of thromboembolism is essential for patients with mechanical prosthetic heart valves. For this group of patients, vitamin K antagonists (VKAs) remain the drug group of choice despite the widespread use of new anticoagulants in other diseases. As a consequence, warfarin resistance remains a serious challenge for physicians. The current report describes a 65-year-old male patient that had a mechanical prosthetic aortic valve implanted due to severe aortic insufficiency after infective endocarditis. Despite consistent increases in his warfarin dose, the level of international normalized ratio (INR) remained very low. The patient was considered to have warfarin resistance. Warfarin was successfully replaced by another VKA, acenocoumarol, which resulted in a stable INR observed over 1 year of follow-up. Achieving the target INR in patients with mechanical prosthetic heart valves using VKAs is the main goal of thromboprophylaxis. Although the genetic changes that cause warfarin resistance are understood, the options to overcome these pharmacogenetic issues remain limited. Based on the success with this current patient, physicians with similar patients with warfarin resistance might wish to consider replacing warfarin with acenocoumarol.

| S-EPMC9235305 | biostudies-literature

Transcription profiling of chicken liver after alpha- and gamma-tocopherol supplementation in case of increased oxidative stress susceptibility

Project description:A 30-day nutritional trial in broiler chickens (Ross 308) was conducted to investigate how specific forms of vitamin E (Î±- and Î³-tocopherol) and their combination impact liver gene expression when oxidative susceptibility of the organism is induced by high n-3 polyunsaturated fatty acids (PUFA) intake. Thirty-six one-day-old male broilers were fed a diet enriched with 5 % linseed oil to induce oxidative susceptibility. Beside negative (N) and positive (P) control group, experimental groups were supplemented with either: 67 mg/kg RRR-Î±-tocopherol (A), 67 mg/kg RRR-Î³-tocopherol (G) or with combination of 33.5 mg/kg of each tocopherol (S). Whole chicken genome microarray analysis was performed on liver RNA and selected differentially expressed genes were confirmed by qRT-PCR.

2017-02-28 | E-MTAB-4507 | biostudies-arrayexpress

Archaeal DNA replication: identifying the pieces to solve a puzzle.

Project description:Archaeal organisms are currently recognized as very exciting and useful experimental materials. A major challenge to molecular biologists studying the biology of Archaea is their DNA replication mechanism. Undoubtedly, a full understanding of DNA replication in Archaea requires the identification of all the proteins involved. In each of four completely sequenced genomes, only one DNA polymerase (Pol BI proposed in this review from family B enzyme) was reported. This observation suggested that either a single DNA polymerase performs the task of replicating the genome and repairing the mutations or these genomes contain other DNA polymerases that cannot be identified by amino acid sequence. Recently, a heterodimeric DNA polymerase (Pol II, or Pol D as proposed in this review) was discovered in the hyperthermophilic archaeon, Pyrococcus furiosus. The genes coding for DP1 and DP2, the subunits of this DNA polymerase, are highly conserved in the Euryarchaeota. Euryarchaeotic DP1, the small subunit of Pol II (Pol D), has sequence similarity with the small subunit of eukaryotic DNA polymerase delta. DP2 protein, the large subunit of Pol II (Pol D), seems to be a catalytic subunit. Despite possessing an excellent primer extension ability in vitro, Pol II (Pol D) may yet require accessory proteins to perform all of its functions in euryarchaeotic cells. This review summarizes our present knowledge about archaeal DNA polymerases and their relationship with those accessory proteins, which were predicted from the genome sequences.

| S-EPMC1460685 | biostudies-other

How Humans Solve Complex Problems: The Case of the Knapsack Problem.

Project description:Life presents us with problems of varying complexity. Yet, complexity is not accounted for in theories of human decision-making. Here we study instances of the knapsack problem, a discrete optimisation problem commonly encountered at all levels of cognition, from attention gating to intellectual discovery. Complexity of this problem is well understood from the perspective of a mechanical device like a computer. We show experimentally that human performance too decreased with complexity as defined in computer science. Defying traditional economic principles, participants spent effort way beyond the point where marginal gain was positive, and economic performance increased with instance difficulty. Human attempts at solving the instances exhibited commonalities with algorithms developed for computers, although biological resource constraints-limited working and episodic memories-had noticeable impact. Consistent with the very nature of the knapsack problem, only a minority of participants found the solution-often quickly-but the ones who did appeared not to realise. Substantial heterogeneity emerged, suggesting why prizes and patents, schemes that incentivise intellectual discovery but discourage information sharing, have been found to be less effective than mechanisms that reveal private information, such as markets.

| S-EPMC5054396 | biostudies-literature

Modified likelihood ratio tests for unit gamma regressions.

Project description:Regression analyses are commonly performed with doubly limited continuous dependent variables; for instance, when modeling the behavior of rates, proportions and income concentration indices. Several models are available in the literature for use with such variables, one of them being the unit gamma regression model. In all such models, parameter estimation is typically performed using the maximum likelihood method and testing inferences on the model's parameters are usually based on the likelihood ratio test. Such a test can, however, deliver quite imprecise inferences when the sample size is small. In this paper, we propose two modified likelihood ratio test statistics for use with the unit gamma regressions that deliver much more accurate inferences when the number of data points in small. Numerical (i.e. simulation) evidence is presented for both fixed dispersion and varying dispersion models, and also for tests that involve nonnested models. We also present and discuss two empirical applications.

| S-EPMC9041586 | biostudies-literature

How p53 Molecules Solve the Target DNA Search Problem: A Review.

Project description:Interactions between DNA and DNA-binding proteins play an important role in many essential cellular processes. A key function of the DNA-binding protein p53 is to search for and bind to target sites incorporated in genomic DNA, which triggers transcriptional regulation. How do p53 molecules achieve "rapid" and "accurate" target search in living cells? The search dynamics of p53 were expected to include 3D diffusion in solution, 1D diffusion along DNA, and intersegmental transfer between two different DNA strands. Single-molecule fluorescence microscopy enabled the tracking of p53 molecules on DNA and the characterization of these dynamics quantitatively. Recent intensive single-molecule studies of p53 succeeded in revealing each of these search dynamics. Here, we review these studies and discuss the target search mechanisms of p53.

| S-EPMC7037437 | biostudies-literature

Trityl Cation-Catalyzed Hosomi-Sakurai Reaction of Allylsilane with β,γ-Unsaturated α-Ketoester to Form γ,γ-Disubstituted α-Ketoesters.

Project description:(Ph3C)[BPh(F)4]-catalyzed Hosomi-Sakurai allylation of allylsilanes with β,γ-unsaturated α-ketoesters has been developed to give γ,γ-disubstituted α-ketoesters in high yields with excellent chemoselectivity. Preliminary mechanistic studies suggest that trityl cation dominates the catalysis, while the silyl cation plays a minor role.

| S-EPMC9331905 | biostudies-literature

Entomopathogenic Fungi Infecting Lepidopteran Larvae: A Case from Central Argentina.

Project description:Immature stages of insects are vulnerable to various antagonists, including pathogens. While the abiotic factors affecting pathogen prevalence in insect populations are reasonably well documented, much less is known about relevant ecological interactions. We studied the probability of the larvae of three lepidopteran species to die from fungal infection as a function of insect species and food plants in central Argentina. Local free-growing food plants were used to feed the lepidopteran larvae. The prevalence of entomopathogenic fungi remained low (about 5%), which is a value well consistent with observations on similar systems in other regions. Eight fungal species recorded, primarily belonging to Fusarium and Aspergillus, add evidence to the reconsideration of the nutritional modes in these genera in distinguishing the role of some species (complexes) to cause insect infections. Food plant species were found to have a substantial effect on the prevalence of entomopathogenic fungi. This was especially clear for the most abundant fungal species, a representative of the Fusarium fujikuroi complex. Feeding on a particular plant taxon can thus have a specific fitness cost. Compared to the data collected from Northern Europe, the Argentinian assemblages from the families Aspergillaceae and Nectriaceae overlapped at the genus level but did not share species. It remains to be confirmed if this level of divergence in the composition of assemblages of entomopathogenic fungi among distant regions represents a global pattern.

| S-EPMC9322771 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data