Search results for "Polymorphism"
showing 10 items of 1968 documents
Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I.
2006
Usher syndrome type I is the most severe form of Usher syndrome. It is an autosomal recessive disorder characterized by profound congenital sensorineural deafness, retinitis pigmentosa, and vestibular abnormalities. Mutations in the myosin VIIA gene (MYO7A) are responsible for Usher syndrome type 1B (USH1B). This gene is thought to bear greatest responsibility for USH1 and, depending on the study, has been reported to account for between 24% and 59% of USH1 cases. In this report a mutation screening of the MYO7A gene was carried out in a series of 48 unrelated USH1 families using single strand conformation polymorphism analysis (SSCP) and direct sequencing of those fragments showed an abnor…
Solid-State NMR, X-ray Diffraction, and Thermoanalytical Studies Towards the Identification, Isolation, and Structural Characterization of Polymorphs…
2009
Combined solid-state NMR, powder, and single crystal X-ray diffraction, as well as thermoanalytical studies were performed towards the identification, isolation, and structural characterization of ...
Multiple spin phases in a switchable Fe(ii) complex: polymorphism and symmetry breaking effects
2018
Polymorphism in spin-crossover (SCO) compounds allows accessing additional forms of switchable materials with diverse transition properties. We have prepared three polymorphs of a new complex [FeLBr(dca)2], where LBr is N,N′-bis[(5-bromo-2-pyridyl)methyl]ethane-1,2-diamine and dca is dicyanamide. They display different SCO properties: the α-form displays a hysteretic one-step switch centered at 134 K, the β-form undergoes hysteretic two-step spin transition with a plateau (T1/2 = 153 and 144 K) and the γ-form remains high spin (HS) over the whole temperature region. The kinetic origin of the hysteresis loop was demonstrated in temperature rate dependent magnetic measurements. Spin transitio…
Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data
2019
Crohn Disease (CD) is a complex genetic disorder for which more than 140 genes have been identified using genome wide association studies (GWAS). However, the genetic architecture of the trait remains largely unknown. The recent development of machine learning (ML) approaches incited us to apply them to classify healthy and diseased people according to their genomic information. The Immunochip dataset containing 18,227 CD patients and 34,050 healthy controls enrolled and genotyped by the international Inflammatory Bowel Disease genetic consortium (IIBDGC) has been re-analyzed using a set of ML methods: penalized logistic regression (LR), gradient boosted trees (GBT) and artificial neural ne…
Exposure to mercury among 9-year-old children and neurobehavioural function
2021
Abstract Mercury (Hg) is an environmental neurotoxicant whose main route of exposure in humans is the consumption of seafood. The aim of this study was to explore the relationship between Hg exposure at 9 years old and behaviour assessed at 9 and 11 years old. Study subjects were mother–child pairs participating in the INMA (Environment and Childhood) Project in Valencia (Spain). Total Hg (THg) was measured in hair samples from the children at 9 years old. Behaviour and emotions were assessed at 9 (n = 472) years and 11 (n = 385) years of age using the Child Behaviour Checklist test (CBCL) and the Conners Parents Rating Scale-Revised: Short Form (CPRS-R:S). Furthermore, the attention functi…
Successive Invasion-Mediated Interspecific Hybridizations and Population Structure in the Endangered Cichlid Oreochromis mossambicus.
2013
Hybridization between invasive and native species accounts among the major and pernicious threats to biodiversity. The Mozambique tilapia Oreochromis mossambicus, a widely used freshwater aquaculture species, is especially imperiled by this phenomenon since it is recognized by the IUCN as an endangered taxon due to genetic admixture with O. niloticus an invasive congeneric species. The Lower Limpopo and the intermittent Changane River (Mozambique) drain large wetlands of potentially great importance for conservation of O. mossambicus, but their populations have remained unstudied until today. Therefore we aimed (1) to estimate the autochthonous diversity and population structure among genet…
Radial and peripheral clines in northern polymorphic populations of Philaenus spumarius
2009
Geographic variability in the colour polymorphism of Philaenus spumarius (Homoptera) was investigated in the northern parts of Finland, Norway and Sweden. The investigation was directed mainly at peripheral populations south of the Baltic—Arctic divide. The colour phenotypes were found to differ in their “north tolerance”. The phenotypes typ (pt/pt) and lat (pt/pt) were the most, and the phenotype tri (pt/pT) the least tolerant to marginal conditions. Differences in “north tolerance” between the phenotypes cause radial clines to be present in allele frequencies. The radial clines may be caused by the combined effect of several different factors. These include shortness of the thermal growth…
Sex-specific impact of inbreeding on pathogen load in the striped dolphin.
2020
The impact of inbreeding on fitness has been widely studied and provides consequential inference about adaptive potential and the impact on survival for reduced and fragmented natural populations. Correlations between heterozygosity and fitness are common in the literature, but they rarely inform about the likely mechanisms. Here, we investigate a pathology with a clear impact on health in striped dolphin hosts (a nematode infection that compromises lung function). Dolphins varied with respect to their parasite burden of this highly pathogenic lung nematode (Skrjabinalius guevarai). Genetic diversity revealed by high-resolution restriction-associated DNA (43 018 RADseq single nucleotide pol…
Bitter, Sweet, Salty, Sour and Umami Taste Perception Decreases with Age: Sex-Specific Analysis, Modulation by Genetic Variants and Taste-Preference …
2018
There is growing interest in relating taste perception to diet and healthy aging. However, there is still limited information on the influence of age, sex and genetics on taste acuity as well as on the relationship between taste perception and taste preferences. We have analysed the influence of age on the intensity rating of the five basic tastes: sweet, salty, bitter, sour and umami (separately and jointly in a &ldquo
Deletion of 11q in Neuroblastomas Drives Sensitivity to PARP Inhibition
2017
AbstractPurpose: Despite advances in multimodal therapy, neuroblastomas with hemizygous deletion in chromosome 11q (20%–30%) undergo consecutive recurrences with poor outcome. We hypothesized that patients with 11q-loss may share a druggable molecular target(s) that can be exploited for a precision medicine strategy to improve treatment outcome.Experimental Design: SNP arrays were combined with next-generation sequencing (NGS) to precisely define the deleted region in 17 primary 11q-loss neuroblastomas and identify allelic variants in genes relevant for neuroblastoma etiology. We assessed PARP inhibitor olaparib in combination with other chemotherapy medications using both in vitro and in v…