Search results for "locu"
showing 10 items of 751 documents
Linkage of C4 and C4 deficiency to BF and GPLA
1977
The C4, Bf, and GPLA phenotypes of homo- and heterozygous C4-deficient guinea pigs were studied. The electrophoretic patterns suggest that the deficiency in circulating C4 results from an impaired structural gene, allelic to the C4F, C4S, and C4S1 alleles at the C4 locus. In family studies, support for linkage of C4 and Bf to theGPLA system was obtained. The defective gene appears to be the fourth allele, which is rare, in the polymorphism of the fourth component of guinea pig complement.
Perfil clínico de los pacientes tratados con evolocumab en unidades hospitalarias de nefrología en España (RETOSS-NEFRO)
2022
Resumen Antecedentes y objetivo Describir las caracteristicas clinicas de los pacientes tratados con evolocumab, las razones del inicio de la terapia y los efectos del tratamiento en la fase inicial de disponibilidad de evolocumab en las unidades de nefrologia de Espana. Material y metodos Estudio retrospectivo, observacional y multicentrico que incluye los pacientes que iniciaron tratamiento con evolocumab (desde febrero de 2016 a agosto de 2018) en 15 unidades de nefrologia en Espana. Se revisaron las caracteristicas demograficas y clinicas de los pacientes, el tratamiento hipolipemiante y la evolucion de los perfiles lipidicos entre 24 semanas antes y 12 ± 4 semanas despues del inicio de…
Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome
1998
The LIM-homeodomain protein Lmxlb plays a central role in dorso-ventral patterning of the vertebrate limb1. Targeted disruption of Lmxlb results in skeletal defects including hypoplas-tic nails, absent patellae and a unique form of renal dysplasia (see accompanying manuscript by H. Chen et al.; ref. 2). These features are reminiscent of the dominantly inherited skeletal malformation nail patella syndrome (NFS). We show that LMX1B maps to the NFS locus and that three independent NFS patients carry de novo heterozygous mutations in this gene. Functional studies show that one of these mutations disrupts sequence-specific DNA binding, while the other two mutations result in premature terminatio…
The treatment of madness in the nineteenth and twentieth centuries: discourses about curability in Spanish mental health care, 1890-1917
2016
Resumen En el trabajo se estudian los discursos sobre la cura que elaboraron los médicos mentalistas españoles en la transición del siglo XIX al XX. Si en las décadas de los años 1870 y 1880 el discurso preponderante promulgado por los médicos pertenecientes a instituciones privadas era extremadamente optimista, posteriormente cambió y se orientó hacia un mayor pesimismo terapéutico. Sin embargo, dadas las necesidades profesionales de los frenópatas, siguieron mostrando una confianza más o menos firme hacia las capacidades terapéuticas de la psiquiatría. La recepción de las nuevas nosologías, como la de Kraepelin, estuvo condicionada, en parte, por la actitud hacia la cura de los médicos me…
La configuración formal de las palabras idiomáticas originadas por acortamiento en locuciones en español: los casos de amén, estampía, mor y ton
2022
En el presente artículo pretendemos analizar la configuración formal con la que han quedado fijadas cuatro palabras idiomáticas (amén, estampía, mor y ton) que se han formado mediante aféresis, síncopa y apócope, es decir, procesos de acortamiento o eliminación de un fragmento respecto a una base originaria. Nos centraremos en fenómenos habituales que presentan este tipo de voces así formadas, como la estructura silábica, la acentuación paroxítona o la dislocación acentual respecto a sus bases. Reservamos para estudios futuros un análisis fraseológico centrado en los sintagmas y funciones de las cinco locuciones que estas conforman. The aim of this paper is to analyze the morphology of four…
ESBL-producing Klebsiella pneumoniae in a University hospital: Molecular features, diffusion of epidemic clones and evaluation of cross-transmission.
2021
The worldwide spread of Klebsiella pneumoniae producing extended-spectrum β-lactamase (ESBL-Kp) is a significant threat. Specifically, various pandemic clones of ESBL-Kp are involved in hospital outbreaks and caused serious infections. In that context, we assessed the phenotypic and molecular features of a collection of ESBL-Kp isolates in a French university hospital and evaluated the occurrence of potential cross-transmissions. Over a 2-year period (2017–2018), 204 non-duplicate isolates of ESBL-Kp were isolated from clinical (n = 118, 57.8%) or screening (n = 86, 42.2%) sample cultures. These isolates were predominantly resistant to cotrimoxazole (88.8%) and ofloxacin (82.8%) but remaine…
C4 DNA RFLP reference typing report.
1990
One hundred and three individual DNA samples (including 23 families) were studied at the gene level during the reference typing of the fourth component of human complement at the VIth Complement Genetics Workshop in Mainz (1989). All samples were analyzed with the restriction enzyme Taq I and with two DNA probes recognizing the 5' ends of both C4 genes and the two adjacent 21-hydroxylase genes. This RFLP is informative for the number of C4 genes as well as for their respective gene size. We found a high degree of variation regarding the number of C4 genes, i.e. haplotypes with 1-3 structural C4 genes of 16 or 22 kb size. By correlating these haplotypes to the complotypes obtained by protein…
Why Do We Take Risks? Perception of the Situation and Risk Proneness Predict Domain-Specific Risk Taking
2021
[EN] Risk taking (RT) is a component of the decision-making process in situations that involve uncertainty and in which the probability of each outcome - rewards and/or negative consequences - is already known. The influence of cognitive and emotional processes in decision making may affect how risky situations are addressed. First, inaccurate assessments of situations may constitute a perceptual bias in decision making, which might influence RT. Second, there seems to be consensus that a proneness bias exists, known as risk proneness, which can be defined as the propensity to be attracted to potentially risky activities. In the present study, we take the approach that risk perception and r…
Transcriptional regulation of the proton translocating NADH dehydrogenase genes (nuoA-N) of Escherichia coli by electron acceptors, electron donors a…
1995
The promoter region and transcriptional regulation of the nuoA-N gene locus encoding the proton-translocating NADH:quinone oxidoreductase was analysed. A 560 bp intergenic region upstream of the nuo locus was followed by a gene (designated lrhA for LysR homologue A) coding for a gene regulator similar to those of the LysR family. Disruption of lrhA did not affect growth (respiratory or non-respiratory) or expression of nuo significantly. Transcriptional regulation of nuo by electron acceptors, electron donors and the transcriptional regulators ArcA, FNR, NarL and NarP, and by IHF (integration host factor) was studied with protein and operon fusions containing the promoter region up to base …
A trans-acting locus regulates an anti-viral expression network and type 1 diabetes risk
2010
Combined analyses of gene networks and DNA sequence variation can provide new insights into the aetiology of common diseases that may not be apparent from genome-wide association studies alone. Recent advances in rat genomics are facilitating systems-genetics approaches. Here we report the use of integrated genome-wide approaches across seven rat tissues to identify gene networks and the loci underlying their regulation. We defined an interferon regulatory factor 7 (IRF7)-driven inflammatory network (IDIN) enriched for viral response genes, which represents a molecular biomarker for macrophages and which was regulated in multiple tissues by a locus on rat chromosome 15q25. We show that Epst…