Autosomal Dominant Retinitis Pigmentosa: Absence of the Rhodopsin Proline- Histidine Substitution (codon 23) in Pedigrees from Europe

In exon 1 at codon 23 of the rhodopsin gene, a mutation resulting in a proline-to-histidine substitution has previously been observed in approximately 12% of American autosomal dominant retinitis pigmentosa (ADRP) patients. The region around the site of this mutation in the rhodopsin gene has been amplified and analyzed in affected individuals from 91 European ADRP pedigrees. The codon 23 mutation has been found to be absent in all cases, including a large Irish pedigree in which the disease gene has previously been shown to be closely linked to the rhodopsin locus. This indicates the presence of either allelic or nonallelic heterogeneity in ADRP

Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline->histidine substitution (codon 23) in pedigrees from Europe

In exon 1 at codon 23 of the rhodopsin gene, a mutation resulting in a proline-to-histidine substitution has previously been observed in approximately 12% of American autosomal dominant retinitis pigmentosa (ADRP) patients. The region around the site of this mutation in the rhodopsin gene has been amplified and analyzed in affected individuals from 91 European ADRP pedigrees. The codon 23 mutation has been found to be absent in all cases, including a large Irish pedigree in which the disease gene has previously been shown to be closely linked to the rhodopsin locus. This indicates the presence of either allelic or nonallelic heterogeneity in ADRP

Los académicos frente a la gestión de la calidad en las instituciones de educación superior: percepción y valoración Os acadêmicos frente à gestão da qualidade nas instituições de educação superior: percepção e valoração Faculty facing quality management in higher education institutions: Perception and assessment

Este artículo reúne y ordena la evidencia empírica existente sobre las opiniones y actitudes de los académicos universitarios frente a la introducción, en sus instituciones, de la lógica, los principios y las herramientas de la gestión de la calidad. El enfoque adoptado es el de la meta-investigación, que supone la recopilación de la literatura relevante y la sistematización de sus contenidos. Éstos se han expuesto ordenados en tres líneas temáticas: las nociones de calidad aceptadas por los académicos, su percepción de los logros de la gestión de la calidad, y su valoración de los diferentes métodos de evaluación asociados a los sistemas de garantía de la calidad.<br>Este artigo reúne e ordena a evidência empírica existente sobre as opiniões e atitudes dos acadêmicos universitários diante da introdução, em suas instituições, da lógica, princípios e ferramentas da gestão da qualidade. O enfoque adotado é o da metainvestigação, que supõe a recopilação da literatura relevante e a sistematização de seus conteúdos. Estes foram expostos em três linhas temáticas: as noções de qualidade aceitas pelos acadêmicos, sua percepção dos sucessos da gestão da qualidade e sua valoração dos diferentes métodos de avaliação associados aos sistemas de garantia da qualidade.<br>This paper puts together and arranges the existing empirical evidence on opinions and attitudes of faculty members about the introduction in their institutions of the logic, principles and tools of quality management. The approach used was the meta-research, which involves compilation of the relevant literature and systematization of its topics. These have been exposed into three thematic lines: the notions of quality accepted by faculty members, their perception of the achievements of quality management, and their assessment of the different evaluation methods associated with systems of quality assurance

Assessment and Intrinsic Motivation

Don’t ask [the teacher] what he wants. [The teacher] doesn’t want anything, instead ask yourself: ‘What do I want?’ StudentThere is evidence a large proportion of accounting students experience extrinsic motivation when studying accounting at university, which has a strong relationship to surface learning. The experience of intrinsic motivation is a necessary precondition for students to experience deep learning. This study examines how to use assessment to support accounting students to experience intrinsic motivation. A sample of 81 students in a third year undergraduate accounting course was studied employing a phenomenographic research approach, using 10 assessed learning tasks for each student (as well as a focus group and student surveys) to measure their experience of how they learn. A key finding is that it is possible to support a large proportion of students to experience intrinsic motivation through use of assessed learning tasks (as part of an integrated set of interventions) that are individualised (different for each student), authentic (involve the real world), include regular formative feedback and generally do not have ‘right’ answers but involve the use of personal judgement. Assessment design can support students to experience change in motivation and thus significantly impact learner outcomes

Caveolin-3 Promotes Nicotinic Acetylcholine Receptor Clustering and Regulates Neuromuscular Junction Activity

This study identifies caveolin-3 as a key component of the signaling machinery that regulates clustering of the nicotinic acetylcholine receptor and controls neuromuscular junction function

Crystal structure of coproporphyrinogen III oxidase reveals cofactor geometry of Radical SAM enzymes

‘Radical SAM’ enzymes generate catalytic radicals by combining a 4Fe–4S cluster and S-adenosylmethionine (SAM) in close proximity. We present the first crystal structure of a Radical SAM enzyme, that of HemN, the Escherichia coli oxygen-independent coproporphyrinogen III oxidase, at 2.07 Å resolution. HemN catalyzes the essential conversion of coproporphyrinogen III to protoporphyrinogen IX during heme biosynthesis. HemN binds a 4Fe–4S cluster through three cysteine residues conserved in all Radical SAM enzymes. A juxtaposed SAM coordinates the fourth Fe ion through its amide nitrogen and carboxylate oxygen. The SAM sulfonium sulfur is near both the Fe (3.5 Å) and a neighboring sulfur of the cluster (3.6 Å), allowing single electron transfer from the 4Fe–4S cluster to the SAM sulfonium. SAM is cleaved yielding a highly oxidizing 5′-deoxyadenosyl radical. HemN, strikingly, binds a second SAM immediately adjacent to the first. It may thus successively catalyze two propionate decarboxylations. The structure of HemN reveals the cofactor geometry required for Radical SAM catalysis and sets the stage for the development of inhibitors with antibacterial function due to the uniquely bacterial occurrence of the enzyme