Search results for "Termini"

A high-density SNP linkage scan with 142 combined subtype ADHD sib pairs identifies linkage regions on chromosomes 9 and 16

2008

As part of the International Multi-centre ADHD Gene (IMAGE) project we have completed an affected sibling pair study of 142 narrowly defined DSM-IV combined type ADHD proband-sibling pairs. We found suggestive linkage on chromosomes 9 and 16 with non-parametric multipoint peak LOD scores of 2.13 and 3.1 respectively. There have been several previous ADHD linkage scans. The UCLA study (Fisher et al. 2002; Ogdie et al. 2004; Ogdie et al. 2003), the Dutch study (Bakker et al. 2003), the German study (Hebebrand et al. 2006) and the MGH Study (Faraone et al., submitted) applied the affected sib pair (ASP) strategy; the Columbian study used extended pedigrees ascertained from a population isolate…

Acromesomelic dysplasia Maroteaux type maps to human chromosome 9.

1998

SummaryAcromesomelic dysplasias are skeletal disorders that disproportionately affect the middle and distal segments of the appendicular skeleton. We report genetic mapping studies in four families with acromesomelic dysplasia Maroteaux type (AMDM), an autosomal recessive osteochondrodysplasia. A peak LOD score of 5.1 at recombination fraction 0 was obtained with fully informative markers on human chromosome 9. In three of the four families, the affected offspring are products of consanguineous marriages; if it is assumed that these affected offspring are homozygous by descent for the region containing the AMDM locus, a 6.9-cM AMDM candidate interval can be defined by markers D9S1853 and D9…

Depressive Symptoms and Alcohol Use are Genetically and Environmentally Correlated Across Adolescence

2010

Depressive symptoms and alcohol use are frequently positively associated during adolescence. This study aimed to assess the heritability of each phenotype across adolescence; to assess potential shared liabilities; to examine changes in the nature of shared liabilities across adolescence; and to investigate potential causal relationships between depressive symptoms and alcohol use. We studied a longitudinally assessed sample of adolescent Finnish twins (N = 1,282) to test hypotheses about genetic and environmental influences on these phenotypes within and across ages, using data from assessments at ages 12, 14, and 17.5 years. The heritability of depressive symptoms is consistent across ado…

Phenotype severity in the bladder exstrophy-epispadias complex: analysis of genetic and nongenetic contributing factors in 441 families from North Am…

2011

Objective To identify genetic and nongenetic risk factors that contribute to the severity of the bladder exstrophy-epispadias complex (BEEC). Study design Patients with BEEC from North America (n = 167) and Europe (n = 274) were included. The following data were collected: associated anomalies, parental age at conception, mode of conception, periconceptional folic acid supplementation, maternal risk factors during pregnancy, and environmental risk factors. The patients were divided into 3 subgroups according to phenotype severity: (i) mild, epispadias (n = 43); (ii) intermediate, classic bladder exstrophy (n = 366); and (iii) severe, cloacal exstrophy (n = 31). These subgroups then were com…

Peptides of the variable IgG domain as potential biomarker candidates in primary open-angle glaucoma (POAG)

2017

Autoantibody profiling has gained increasing interest in the research field of glaucoma promising the detection of highly specific and sensitive marker candidates for future diagnostic purposes. Recent studies demonstrated that immune responses are characterized by the expression of congruent or similar complementarity determining regions (CDR) in different individuals and could be used as molecular targets in biomarker discovery. Main objective of this study was to characterize glaucoma-specific peptides from the variable region of sera-derived immunoglobulins using liquid chromatography--mass spectrometry (LC-MS)-based quantitative proteomics. IgG was purified from sera of 13 primary open…

Mutations in the PDS Gene in German Families with Pendred’s Syndrome: V138F Is a Founder Mutation

2003

Pendred's syndrome, an autosomal-recessive condition characterized by congenital sensorineural hearing loss and goiter, is caused by mutations in the PDS gene. Located on chromosome 7q22-q31, it encodes a chloride-iodide transporter expressed in the thyroid, inner ear, and kidney. We investigated the PDS gene of six affected individuals from four unrelated families with Pendred's syndrome by direct sequencing. PDS mutations were identified in homozygous or compound heterozygous state in all six cases. A homozygous missense mutation leading to the amino acid substitution S133T was detected in a family of Turkish origin. The mutations found in the other affected individuals, who originate fro…

Generation and characterization of three monoclonal IgM antiphospholipid antibodies recognizing different phospholipid antigens.

2005

Antiphospholipid antibodies (APLs) might be involved in the pathogenesis of the antiphospholipid syndrome (APS). This study analyzes the structural characteristics of monoclonal APLs derived from patients with this disease. Patient-derived B cells were immortalized using Epstein-Barr virus transformation and subsequent fusion to the myeloma cell line CB-F7. APL-producing hybridomas were cloned to obtain cell lines producing monoclonal APL. DNA encoding the variable region of heavy and light chains of the antibodies was sequenced and analyzed regarding their usage within the V-gene family and the existence of somatic hypermutation. Binding patterns of APL to various phospholipids and beta-2-…

Glucose processing may be rate limiting step in R3230Ac mammary carcinoma metabolism

2001

La libertà tra determinismo naturale e determinismo teologico: Il De servo arbitrio di Lutero

2018

L'articolo analizza il rapporto tra determinismo naturale e storico da un lato e determinismo teologico dall'altro, così come Lutero lo affronta nel De servo arbitrio, a partire dalla sua concreta esperienza di fede. L'articolo cerca di mostrare come l'idea di determinismo di Lutero sia escludente l’opposta idea d’indeterminazione, ragion per cui egli rifiuta la concezione della libertà come libertas indifferentiae, ma non la contingenza degli eventi e quindi neppure l'autodeterminazione dell'uomo. Nell'articolo si mostra come la posizione di Lutero al riguardo sia stata accolta da Leibniz e da Hegel. The article analyzes the relationship between natural and historical determinism on the on…

Subalternità e filosofia della storia. Appunti sul carteggio Marx-Zasulič

2021

this article proposes, through the Gramscian political-pedagogical category of subalternity, a reading of the brief exchange of letters at the beginning of 1881 between Karl Marx and Vera Zasulič, a russian revolutionary militant at that time member of the populist group Čërnyj peredel (black repartition), on an issue of great importance for the russian socialist movement: the obščina, or that specific form of common ownership of land by russian peasants. to this end, it is necessary to analyze the chapter XXiV of the first book of Capital, in which Marx outlines the historical genesis of capitalism in Western europe and, in particular, in england, through the phenomenon of «the so-called o…