Search results for "Phenotype"

Inflammation, genes and zinc in Alzheimer's disease.

2007

Alzheimer's disease (AD) is a heterogeneous and progressive neurodegenerative disease which in Western society mainly accounts for clinical dementia. AD has been linked to inflammation and metal biological pathway. Neuro-pathological hallmarks are senile plaques, resulting from the accumulation of several proteins and an inflammatory reaction around deposits of amyloid, a fibrillar protein, Abeta, product of cleavage of a much larger protein, the beta-amyloid precursor protein (APP) and neurofibrillary tangles. Amyloid deposition, due to the accumulation of Abeta peptide, is the main pathogenetic mechanism. Inflammation clearly occurs in pathologically vulnerable regions of AD and several i…

Beckwith–Wiedemann syndrome: multiple molecular mechanisms

2006

Beckwith–Wiedemann syndrome (BWS) is a congenital overgrowth condition with an increased risk of developing embryonic tumours, such as Wilms' tumour. The cardinal features are abdominal wall defects, macroglossia and gigantism. BWS is generally sporadic; only 10–15% of cases are familial. A variety of molecular aberrations have been associated with BWS. The only mutations within a gene are loss-of-function mutations in the CDKN1C gene, which codes for an imprinted cell-cycle regulator. CDKN1C mutations appear to be particularly associated with umbilical abnormalities, but not with increased predisposition to Wilms' tumour. In the remaining BWS subgroups, a disturbance of the tight epigeneti…

Behavioral phenotype and autism spectrum disorders in Cornelia de Lange syndrome

2015

Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by distinctive facial features, growth retardation, limb abnormalities, intellectual disability, and behavioral problems. Cornelia de Lange syndrome is associated with abnormalities on chromosomes 5, 10 and X. Heterozygous point mutations in three genes (<em>NIPBL</em>, <em>SMC3</em> and <em>SMC1A</em>), are responsible for approximately 50-60% of CdLS cases. CdLS is characterized by autistic features, notably excessive repetitive behaviors and expressive language deficits. The prevalence of autism spectrum disorder (ASD) symptomatology is comparatively high in CdLS. However, the pro…

Role of calcium in E-selectin induced phenotype of T84 colon carcinoma cells

2003

The adhesion of cancer cells to the endothelium during the metastatic process involves the interaction of specific cell-cell adhesion receptors on the cell surface. E-selectin on endothelial cells and sialyl Lewis X carbohydrate component on tumor cells are mainly implicated in the adhesion of colon carcinoma cells to the endothelium of target organ. In this paper we show that binding of E-selectin to T84 colon tumor cells causes approximately a twofold increase in intracellular calcium concentration. In particular, using two inhibitors of receptor operated calcium channels, CAI and SK&F 96365, we present evidences that the augmentation in cytoplasmic calcium originates from ionic influx fr…

Diuron environmental levels effects on marine nematodes: Assessment of ecological indices, taxonomic diversity, and functional traits

2021

Abstract Coastal marine systems are the most sensitive zones to emerging pollutants. The present study aims to investigate the effect of Diuron on the meiofaunal assemblages, collected from the Bizerte channel (Tunisia). Microcosm experiments were set up using four increasing Diuron concentrations [D1 (10 ng g−1 dry weight (DW)), D2 (50 ng g−1 DW), D3 (250 ng g−1 DW) and (1250 ng g−1 DW)] compared to non-contaminated sediments (controls) and all plots were incubated for 30 days. Our results show that Diuron-supplemented sediments provoked the significant decrease of meiofaunal abundance as well as a change in nematodes' diversity and structure composition. All univariate indices, as well as…

Neurocognitive endophenotypes in schizophrenia and bipolar disorder: A systematic review of longitudinal family studies

2018

Although there is substantial evidence supporting the existence of neurocognitive impairment in patients diagnosed with schizophrenia (SZ) and bipolar disorder (BD), few studies have explored the field from an endophenotypic perspective. The present systematic review sought to identify longitudinal family studies exploring suitable neurocognitive endophenotypes in unaffected relatives of patients with SZ and/or BD. Following the PRISMA statement, only five follow-up studies met the inclusion criteria, comprising 79 SZ patients, 159 SZ unaffected relatives of SZ, 131 BD patients, 77 unaffected relatives of BD, and 248 controls. Verbal memory, auditory attention, face memory and emotion proce…

Motor speed predicts stability of cognitive deficits in both schizophrenic and bipolar I patients at one-year follow-up

2009

Background: We examined whether motor speed assessed by the finger tapping test predicts generalized and specific stable deficits because of a common pathogenic process in bipolar and schizophrenic patients. Methods: One hundred and two patients underwent a battery of neuropsychological tests. Patients with a score of less than one standard deviation from their siblings', sample in two assessments with an interval of one year were defined as suffering from stable deficits because of a common pathogenic process. In addition to univariate analyses, factor analyses, ordinal logistic regression, and multiple linear regressions were used. A general score was also calculated. Results: No differen…

Further studies on associations between leprosy and genetic markers in human serum.

1973

Seven serum proteins were typed on a sample of 910 individuals from Angola, Africa. The sample consisted of both leprosy patients and healthy controls from the same geographical area. Significant associations with leprosy were found for the Hp and Pi systems. The results are discussed.

Comunicazione orale

2011

Associations of the FTO rs9939609 and the MC4R rs17782313 polymorphisms with type 2 diabetes are modulated by diet, being higher when adherence to th…

2012

Background: Although the Fat Mass and Obesity (FTO) and Melanocortin-4 Receptor (MC4R) genes have been consistently associated with obesity risk, the association between the obesity-risk alleles with type 2 diabetes is still controversial. In some recent meta-analyses in which significant results have been reported, the associations disappeared after adjustment for body mass index (BMI). However gene-diet interactions with dietary patterns have not been investigated. Our main aim was to analyze whether these associations are modulated by the level of adherence to the Mediterranean Diet (MedDiet). Methods: Case-control study in 7,052 high cardiovascular risk subjects (3,430 type 2 diabetes c…