Search results for "Linkage"
showing 10 items of 363 documents
Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the friedreich's ataxia locus on chromosome 9q
1995
Absence of lower limb tendon reflexes has been considered an essential diagnostic criterion for Friedreich's ataxia (FA). However, preservation of knee and ankle jerks has been reported in a few patients. Linkage analysis to FA locus (FRDA) on chromosome 9q13-21.1 was performed in 11 patients from 6 families with FA phenotype, including cardiomyopathy, but retained reflexes (FARR). A maximal lod score of 3.38 at recombination fraction theta equal to 0.00 was obtained demonstrating that FARR maps to the FRDA locus. These results suggest that FARR is a variant phenotype of FA.
Covariations between shell-growth parameters and the control of the ranges of variation of functionally relevant shell-shape parameters in bivalves: …
2014
Major traits of shell shape in bivalves may alternatively be described in terms of (i) functionally relevant parameters, assumed to play a significant role in the adaptation of bivalves molluscs to their environments (such as the shell-outline elongation E, ventral convexity K, and dissymmetry D), or (ii) growth-based parameters, directly controlled by the animal. Due to the geometrical linkage between functionally-relevant and growth-based parameters, adaptive constraints that may either widen or narrow the respective ranges of variations of the functional parameters lead to the onset of specific covariations (either positive or negative) between the growth-based parameters. This has pract…
DVWA gene polymorphisms and osteoarthritis
2015
Background: Osteoarthritis (OA) is a degenerative joints disorder influenced by genetic predisposition. We reported that rs11718863 DVWA SNP was represented in Sicilian with a more severe Kellgren and Lawrence (KL) radiographic grade, displaying its predictive role as OA marker progression. Here, we describe the DVWA SNPs: rs11718863, rs7639618, rs7651842, rs7639807 and rs17040821 probably able to induce protein functional changes. Findings: Sixty-one Sicilian patients with knee OA and 100 healthy subjects were enrolled. Clinical and radiographic evaluation was performed using AKSS scores and KL. Linkage Disequilibrium (LD) analyses were performed in order to verify whether the SNPs segrega…
Genome-Wide Association Study (GWAS) on Bilirubin Concentrations in Subjects with Metabolic Syndrome: Sex-Specific GWAS Analysis and Gene-Diet Intera…
2019
Although, for decades, increased serum bilirubin concentrations were considered a threatening sign of underlying liver disease and had been associated with neonatal jaundice, data from recent years show that bilirubin is a powerful antioxidant and suggest that slightly increased serum bilirubin concentrations are protective against oxidative stress-related diseases, such as cardiovascular diseases. Therefore, a better understanding of the gene-diet interactions in determining serum bilirubin concentrations is needed. None of the previous genome-wide association studies (GWAS) on bilirubin concentrations has been stratified by sex. Therefore, considering the increasing interest in incorporat…
Genetic variation in human leukocyte antigen and susceptibility to acute myeloid leukemia.
2015
In this issue of Acta Haematologica, Authors report the association between the Human Major Histocompatibility complex (MHC) HLA-C3 and Acute Myeloid Leukemia (AML) in Korean population, confirming previous studies on association between HLA-C and AML.
Multiprojective spaces and the arithmetically Cohen-Macaulay property
2019
AbstractIn this paper we study the arithmetically Cohen-Macaulay (ACM) property for sets of points in multiprojective spaces. Most of what is known is for ℙ1× ℙ1and, more recently, in (ℙ1)r. In ℙ1× ℙ1the so called inclusion property characterises the ACM property. We extend the definition in any multiprojective space and we prove that the inclusion property implies the ACM property in ℙm× ℙn. In such an ambient space it is equivalent to the so-called (⋆)-property. Moreover, we start an investigation of the ACM property in ℙ1× ℙn. We give a new construction that highlights how different the behavior of the ACM property is in this setting.
Innovation in the Rural Areas and the Linkage with the Quintuple Helix Model
2016
Abstract In this paper we analyze some specific conditions for local development. Our interest is oriented towards a multidimensional aspect of peripheral and rural areas. The rural areas considered as a productive system reflects a strong relationship between the agriculture and the other economic activities, In addition eco-systems must be protected and enhanced to develop innovation models that propose new roles and responsibilities for a new development vision. Following the implementation of the Smart Specialization Strategy and the Quintuple Helix Model this paper underlines the importance of connecting the innovation process with rural territories. We have considered some environment…
Fish introductions and light modulate food web fluxes in tropical streams: a whole-ecosystem experimental approach.
2016
Decades of ecological study have demonstrated the importance of top-down and bottom-up controls on food webs, yet few studies within this context have quantified the magnitude of energy and material fluxes at the whole-ecosystem scale. We examined top-down and bottom-up effects on food web fluxes using a field experiment that manipulated the presence of a consumer, the Trinidadian guppy Poecilia reticulata, and the production of basal resources by thinning the riparian forest canopy to increase incident light. To gauge the effects of these reach-scale manipulations on food web fluxes, we used a nitrogen (15 N) stable isotope tracer to compare basal resource treatments (thinned canopy vs. co…
Shared Genetic Etiology of Obesity-Related Traits and Barrett's Esophagus/Adenocarcinoma: Insights from Genome-Wide Association Studies
2020
Abstract Background: Obesity is a major risk factor for esophageal adenocarcinoma (EA) and its precursor Barrett's esophagus (BE). Research suggests that individuals with high genetic risk to obesity have a higher BE/EA risk. To facilitate understanding of biological factors that lead to progression from BE to EA, the present study investigated the shared genetic background of BE/EA and obesity-related traits. Methods: Cross-trait linkage disequilibrium score regression was applied to summary statistics from genome-wide association meta-analyses on BE/EA and on obesity traits. Body mass index (BMI) was used as a proxy for general obesity, and waist-to-hip ratio (WHR) for abdominal obesity. …
Synthesis and characterization of nanomaterial based on halloysite and hectorite clay minerals covalently bridged
2021
Halloysite is an aluminosilicate clay with a predominantly hollow tubular structure (HNTs) able to act as a nanocontainer for the encapsulation of several chemicals. However, HNTs possess low affinity for metal ions in their pristine form and they need to be modified for improving their adsorption capabilities. Therefore, to overcome this issue herein we report a straightforward approach for the covalent modification of the external surface of halloysite nanotubes with hectorite clay. Compared to halloysite, hectorite possesses a lamellar structure with higher cation exchange capacity. The covalent linkage between the two clays was verified by several techniques (FTIR spectroscopy, 13C CP-M…