Search results for " Mapping"
showing 10 items of 1411 documents
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…
The genetic architecture of sexually selected traits in two natural populations of Drosophila montana
2015
The work was supported by the National Environment Research Council (grant NE/E015255/1 to MGR and RKB) and the Academy of Finland (project 132619 to AH). We investigated the genetic architecture of courtship song and cuticular hydrocarbon traits in two phygenetically distinct populations of Drosophila montana. To study natural variation in these two important traits, we analysed within-population crosses among individuals sampled from the wild. Hence, the genetic variation analysed should represent that available for natural and sexual selection to act upon. In contrast to previous between-population crosses in this species, no major quantitative trait loci (QTLs) were detected, perhaps be…
Purification and characterization of rat-liver cytosolic epoxide hydrolase.
1988
Rat liver cytosolic epoxide hydrolase has been purified and characterized. The enzyme was purified from tiadenol-induced rat liver 540-fold with respect to trans-stilbene oxide as a substrate. Similar purification was obtained with the substrates trans-beta-ethyl styrene oxide and styrene 7,8-oxide, the specific activities decreasing in the order trans-beta-ethyl styrene oxide greater than styrene 7,8-oxide greater than trans-stilbene oxide. The enzyme exerts highest activity at pH 7.4 Km and Vmax of the pure enzyme for trans-stilbene oxide were 1.7 microM and 205 nmol x min-1 x mg protein-1 respectively. With trans-stilbene oxide as a substrate, the inhibition by organic solvents (2.5% by …
Early emergence of deviant frontal fMRI activity for phonological processes in poor beginning readers.
2010
Phonological awareness refers to the ability to perceive and manipulate the sound structure of language and is especially important when children learn to read. Poor phonological awareness is considered the major cause for the emergence of reading difficulties. In this functional magnetic resonance imaging (fMRI) study, we examined the brain correlates of phonological processing in young beginning readers (aged 8.3+/-0.4 y, 2nd grade) with poor (25th percentile) or normal, age-appropriate reading skills (40th percentile) using a covert reading and mental letter substitution task. Letter substitution in words and nonwords induced pronounced activity in a left frontal language network related…
Nucleus incertus contribution to hippocampal theta rhythm generation.
2006
The hippocampal theta rhythm is generated by the pacemaker activity of the medial septum-diagonal band of Broca (MS/DBB) neurons. These nuclei are influenced by brainstem structures that modulate the theta rhythm. The aim of the present work is to determine whether the nucleus incertus (NI), which has important anatomical connections with the MS/DBB, contributes to the hippocampal theta rhythm generation in rats. Hippocampal field activity was recorded in urethane-anaesthetized rats. Electrical stimulation of the NI not only evoked theta rhythm in the hippocampus, but also decreased the amplitude of delta waves. Unit recordings in the NI revealed either a non-rhythm discharge pattern in mos…
Regional distribution of the leucine-rich glioma inactivated (LGI) gene family transcripts in the adult mouse brain
2009
25 p., figuras y bibliografía
Reward for food odors: An fMRI study of liking and wanting as a function of metabolic state and BMI
2014
Brain reward systems mediate liking and wanting for food reward. Here, we explore the differential involvement of the following structures for these two components: the ventral and dorsal striatopallidal area, orbitofrontal cortex (OFC), anterior insula, and anterior cingulate. Twelve healthy female participants were asked to rate pleasantness (liking of food and non-food odors) and the desire to eat (wanting of odor-evoked food) during event-related functional magnetic resonance imaging (fMRI). The subjective ratings and fMRI were performed in hunger and satiety states. Activations of regions-of-interest were compared as a function of task (liking vs. wanting), odor category (food vs. non-…
Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion
1996
International audience; Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves the central and peripheral nervous systems and the heart. A gene, X25, was identified in the critical region for the FRDA locus on chromosome 9q13. This gene encodes a 210-amino acid protein, frataxin, that has homologs in distant species such as Caenorhabditis elegans and yeast. A few FRDA patients were found to have point mutations in X25, but the majority were homozygous for an unstable GAA trinucleotide expansion in the first X25 intron.
Fluency and rule breaking behaviour in the frontal cortex
2020
Design (DF) and phonemic fluency tests (FAS; D-KEFS, 2001) are commonly used to investigate voluntary generation. Despite this, several important issues remain poorly investigated. In a sizeable sample of patients with focal left or right frontal lesion we established that voluntary generation performance cannot be accounted for by fluid intelligence. For DF we found patients performed significantly worse than healthy controls (HC) only on the switch condition. However, no significant difference between left and right frontal patients was found. In contrast, left frontal patients were significantly impaired when compared with HC and right frontal patients on FAS. These lateralization findin…
Embedded word priming elicits enhanced fMRI responses in the visual word form area.
2018
Lexical embedding is common in all languages and elicits mutual orthographic interference between an embedded word and its carrier. The neural basis of such interference remains unknown. We employed a novel fMRI prime-target embedded word paradigm to test for involvement of a visual word form area (VWFA) in left ventral occipitotemporal cortex in co-activation of embedded words and their carriers. Based on the results of related fMRI studies we predicted either enhancement or suppression of fMRI responses to embedded words initially viewed as primes, and repeated in the context of target carrier words. Our results clearly showed enhancement of fMRI responses in the VWFA to embedded-carrier …