Search results for " Identification"
showing 10 items of 707 documents
Microbial Succession in the Gut: Directional Trends of Taxonomic and Functional Change in a Birth Cohort of Spanish Infants
2014
In spite of its major impact on life-long health, the process of microbial succession in the gut of infants remains poorly understood. Here, we analyze the patterns of taxonomic and functional change in the gut microbiota during the first year of life for a birth cohort of 13 infants. We detect that individual instances of gut colonization vary in the temporal dynamics of microbiota richness, diversity, and composition at both functional and taxonomic levels. Nevertheless, trends discernible in a majority of infants indicate that gut colonization occurs in two distinct phases of succession, separated by the introduction of solid foods to the diet. This change in resource availability causes…
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational researc…
2019
Limited translational genomic research data have been reported on the application of exome sequencing and parallel gene testing for preconception carrier screening (PCS). Here, we present individual-level data from a large PCS program in which exome sequencing was routinely performed on either gamete donors (5,845) or infertile patients (8,280) undergoing in vitro fertilization (IVF) treatment without any known family history of inheritable genetic conditions. Individual-level data on pathogenic variants were used to define conditions for PCS based on criteria for severity, penetrance, inheritance pattern, and age of onset. Fetal risk was defined based on actual carrier frequency data accou…
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis
2007
Contains fulltext : 53618.pdf (Publisher’s version ) (Closed access) Leber congenital amaurosis (LCA) causes blindness or severe visual impairment at or within a few months of birth. Here we show, using homozygosity mapping, that the LCA5 gene on chromosome 6q14, which encodes the previously unknown ciliary protein lebercilin, is associated with this disease. We detected homozygous nonsense and frameshift mutations in LCA5 in five families affected with LCA. In a sixth family, the LCA5 transcript was completely absent. LCA5 is expressed widely throughout development, although the phenotype in affected individuals is limited to the eye. Lebercilin localizes to the connecting cilia of photore…
ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia
2013
Anophthalmia and microphthalmia (A/M) are early-eye-development anomalies resulting in absent or small ocular globes, respectively. A/M anomalies occur in syndromic or nonsyndromic forms. They are genetically heterogeneous, some mutations in some genes being responsible for both anophthalmia and microphthalmia. Using a combination of homozygosity mapping, exome sequencing, and Sanger sequencing, we identified homozygosity for one splice-site and two missense mutations in the gene encoding the A3 isoform of the aldehyde dehydrogenase 1 (ALDH1A3) in three consanguineous families segregating A/M with occasional orbital cystic, neurological, and cardiac anomalies. ALDH1A3 is a key enzyme in the…
The relationships of family and classroom environments with peer relational victimization: An analysis of their gender differences
2010
This study analyzes the relationships of adolescents' perceptions of their family and classroom environments with peer relational victimization, taking into account that these relationships could be mediated by adolescents' self-esteem, feelings of loneliness, and sociometric status. These relationships, and their possible gender differences, were analyzed in a sample of 1319 Spanish adolescents (48% boys and 52% girls), ages 11 to 16 years (M= 13.7,SD= 1.5). A structural equation modeling was calculated for boys and girls separately. The findings suggested that the adolescents' self-esteem, loneliness, and sociometric status had a significant direct effect on peer relational victimization …
Traits that define the different alcohol intensive consume type during the practice of "botellon".
2012
Un fenómeno que en España favorece el actual patrón de consumo de alcohol juvenil es el conocido como botellón. A partir de una investigación financiada por el Plan Nacional sobre Drogas (2004-2007), se recogieron datos de 6009 jóvenes entre 14 y 25 años en tres ciudades españolas, considerando para este trabajo a quienes realizan episodios de consumo intensivo de alcohol (n = 2807). El objetivo ha sido identificar los distintos tipos de consumidores de riesgo intensivos mediante un análisis de conglomerados y establecer el perfil característico de cada uno. Se diferencian cuatro grupos en función de la edad, sexo, cantidad de alcohol y años de consumo. Los estudiantes de secundaria ingiere…
The role of peer groups in male and female adolescents' task values and physical activity.
2011
The purpose of this longitudinal study was to examine the role of peer groups and sex in adolescents' task values and physical activity. The participants were 330 Finnish Grade 6 students (173 girls, 157 boys), who responded to questionnaires that assessed physical education task values during the spring semester (Time 1). Students' physical activity was assessed one year later (Time 2). The results indicated that adolescent peer groups were moderately homogeneous in terms of task values toward physical education and physical activity. Girls' peer groups were more homogeneous than those of boys in regards to utility and attainment values. Furthermore, the results for both girls and boys sh…
Preparation of degraded human DNA under controlled conditions
2003
Abstract DNA typing through analysis of short tandem repeats (STRs) and mitochondrial DNA (mtDNA) by means of the polymerase chain reaction (PCR) and sequencing are the common methods for the forensic identification of persons and reconstruction of kinship, especially when skeletal human remains have to be analyzed. Furthermore, samples typically found at crime scenes may be both quantitatively and qualitatively inadequate since they may contain very scarce and often degraded DNA due to exposure to heat, light, humidity, and microorganisms. In order to improve the performance of STR typing technology in those cases where DNA availability is limited, it would be desirable to have a source of…
Genomic and metabolomic profile associated to microalbuminuria.
2013
To identify factors related with the risk to develop microalbuminuria using combined genomic and metabolomic values from a general population study. One thousand five hundred and two subjects, Caucasian, more than 18 years, representative of the general population, were included. Blood pressure measurement and albumin/creatinine ratio were measured in a urine sample. Using SNPlex, 1251 SNPs potentially associated to urinary albumin excretion (UAE) were analyzed. Serum metabolomic profile was assessed by 1H NMR spectra using a Brucker Advance DRX 600 spectrometer. From the total population, 1217 (mean age 54 ± 19, 50.6% men, ACR>30 mg/g in 81 subjects) with high genotyping call rate were ana…
Contextual diversity is a main determinant of word identification times in young readers.
2013
Recent research with college-aged skilled readers by Adelman and colleagues revealed that contextual diversity (i.e., the number of contexts in which a word appears) is a more critical determinant of visual word recognition than mere repeated exposure (i.e., word frequency) (Psychological Science, 2006, Vol. 17, pp. 814-823). Given that contextual diversity has been claimed to be a relevant factor to word acquisition in developing readers, the effects of contextual diversity should also be a main determinant of word identification times in developing readers. A lexical decision experiment was conducted to examine the effects of contextual diversity and word frequency in young readers (child…