Search results for "mutation."

Copy number variation and missense mutations of the agouti signaling protein (ASIP) gene in goat breeds with different coat colors.

2009

In goats, classical genetic studies reported a large number of alleles at the Agouti locus with effects on coat color and pattern distribution. From these early studies, the dominant A(Wt) (white/tan) allele was suggested to cause the white color of the Saanen breed. Here, we sequenced the coding region of the goat ASIP gene in 6 goat breeds (Girgentana, Maltese, Derivata di Siria, Murciano-Granadina, Camosciata delle Alpi, and Saanen), with different coat colors and patterns. Five single nucleotide polymorphisms (SNPs) were identified, 3 of which caused missense mutations in conserved positions of the cysteine-rich carboxy-terminal domain of the protein (p.Ala96Gly, p.Cys126Gly, and p.Val1…

Role of Symbiosis in Evolution

2013

The biological relevance of the widespread prokaryote–eukaryote symbioses as a source of evolutionary innovation has been unveiled by the advent of the Genomic era, allowing deep knowledge on single or consortia uncultivable species. The establishment and maintenance of symbiosis are complex issues where partners’ fitness determines the evolutionary outcome. Comparative genomics allows to dissect the evolutionary process that begins with host invasion, takes the path from facultative to obligate symbiosis, and ends up in replacement or coexistence with new bacterial symbionts. Whole genomes of several intracellular bacterial symbionts have been sequenced, allowing the comparison among the d…

Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study.

2015

Summary Background Molybdenum cofactor deficiency (MoCD) is characterised by early, rapidly progressive postnatal encephalopathy and intractable seizures, leading to severe disability and early death. Previous treatment attempts have been unsuccessful. After a pioneering single treatment we now report the outcome of the complete first cohort of patients receiving substitution treatment with cyclic pyranopterin monophosphate (cPMP), a biosynthetic precursor of the cofactor. Methods In this observational prospective cohort study, newborn babies with clinical and biochemical evidence of MoCD were admitted to a compassionate-use programme at the request of their treating physicians. Intravenous…

Clinical, molecular and functional characterization of two novel mutations associated to compound heterozygous FHBL

2012

Introduction. Primary hypobetalipoproteinemia (pHBL) is a monogenic heterogeneous condition characterized by total cholesterol (TC) and/or LDL cholesterol (LDL-C) levels below the 5th percentile of the reference population. Heterozygous APOB gene mutations are responsible for the majority of the dominant pHBL causing the familial hypobetalipoproteinemia (FHBL). The clinical phenotype of heterozygous FHBL is usually mild. The homozygous or compound heterozygous APOB mutations are in some cases responsible for a more severe biochemical and clinical phenotype, similar to the abetalipoproteinemia (ABL) due to homozygous mutations in the MTP gene, characterized by intestinal malabsorption, pigme…

Parallelizing Epistasis Detection in GWAS on FPGA and GPU-Accelerated Computing Systems

2015

This is a post-peer-review, pre-copyedit version of an article published in IEEE - ACM Transactions on Computational Biology and Bioinformatics. The final authenticated version is available online at: http://dx.doi.org/10.1109/TCBB.2015.2389958 [Abstract] High-throughput genotyping technologies (such as SNP-arrays) allow the rapid collection of up to a few million genetic markers of an individual. Detecting epistasis (based on 2-SNP interactions) in Genome-Wide Association Studies is an important but time consuming operation since statistical computations have to be performed for each pair of measured markers. Computational methods to detect epistasis therefore suffer from prohibitively lon…

Boolean Networks: A Primer

2021

Abstract Autism Spectrum Disorders (ASDs) stand out as a relevant example where omics-data approaches have been extensively and successfully employed. For instance, an outstanding outcome of the Autism Genome Project relies in the identification of biomarkers and the mapping of biological processes potentially implicated in ASDs’ pathogenesis. Several of these mapped processes are related to molecular and cellular events (e.g., synaptogenesis and synapse function, axon growth and guidance, etc.) that are required for the development of a correct neuronal connectivity. Interestingly, these data are consistent with results of brain imaging studies of some patients. Despite these remarkable pr…

Using interactive evolutionary algorithms to help fit cochlear implants

2010

AC Switching of Relaxor PLZT Ceramics

2005

The switching under application of bipolar ac field is studied by recording of the hysteresis loops in wide temperature and field range in PLZT x/65/35 ceramics. The qualitative difference of the shape of hysteresis loops above and below the freezing temperature is attributed to backswitching in relaxor phase due to the depolarization field produced by the bound charges located at the interphase boundaries. The application of the quasistatic approach to analysis of the experimental data allows us to obtain parameters of the distribution function of local coercive fields from the field dependence of the switching charge derivative on field.

Pseudo-bosons and Riesz Bi-coherent States

2016

After a brief review on D-pseudo-bosons we introduce what we call Riesz bi-coherent states, which are pairs of states sharing with ordinary coherent states most of their features. In particular, they produce a resolution of the identity and they are eigenstates of two different annihilation operators which obey pseudo-bosonic commutation rules.

The Study of Carbamoyl Phosphate Synthetase 1 Deficiency Sheds Light on the Mechanism for Switching On/Off the Urea Cycle

2015

12 páginas, 4 figuras, 2 tablas.