Balancing Act:The University Council and Board of the University in Groningen, 1972–2022

‘it takes two to tango’Het gedenkboek Evenwichtskunst is uitgegeven ter gelegenheid van het 50-jarige bestaan van het College van Bestuur en de Universiteitsraad van de Rijksuniversiteit Groningen. Het accent in deze uitgave ligt op de laatste twee decennia. In een kort historisch overzicht staat het beleid van de opeenvolgende Colleges van Bestuur centraal. Onderwerpen als het Groningse Harmoniemodel, de Nobelprijs voor Ben Feringa komen aan de orde, maar ook bijvoorbeeld het mislukte Yantai-project in China blijft niet onvermeld.‘it takes two to tango’The commemorative book Balancing Act has been published to mark the 50-year anniversary of the Board of the University and the University Council of the University of Groningen. The book’s emphasis lies on the past two decades. In a brief historical overview, a spotlight is shined on the policy of the consecutive Boards of the University. Topics such as the Groningen Harmony Model and the Nobel Prize for Ben Feringa are addressed, while affairs such as the failed Yantai project in China are not swept under the rug

The irradiation facility at the AGOR cyclotron

The KVI is conducting radiobiology research using protons up to 190 MeV from the superconducting AGOR cyclotron in collaboration with the University Medical Center Groningen (UMCG) since 1998. Using the same set-up, we have started irradiations for radiation hardness studies of detectors and components for the European Space Agency (ESA) and industrial parties. For these irradiations, we use either mono-energetic protons or a simulated solar flare energy spectrum with fluxes up to 5 x 108 protons cm(-2) s(-1). Furthermore, tests of radiation effects such as single event upsets, are being performed with intensities down to a few particles/s. Different energies are achieved by degrading the primary beam energy. We are currently developing the capability for heavy ion irradiations in air with beams up to Xe at beam energies between 15 and 45 MeV per nucleon. Performing the irradiations in air simplifies handling and monitoring of the device under test. The high energy allows penetration to the active layer of electronic devices, without modifications to the chip housing. The different ions provide a wide range in LET. (c) 2007 Elsevier B.V. All rights reserved

Vertical Beam Motion in the AGOR Cyclotron

Series: Low and Intermediate Energy Accelerators and Sources Keywords: beam-losses betatron cyclotron proton resonance

Phenotypes and genotypes in individuals with SMC1A variants

SMC1A encodes one of the proteins of the cohesin complex. SMC1A variants are known to cause a phenotype resembling Cornelia de Lange syndrome (CdLS). Exome sequencing has allowed recognizing SMC1A variants in individuals with encephalopathy with epilepsy who do not resemble CdLS. We performed an international, interdisciplinary study on 51 individuals with SMC1A variants for physical and behavioral characteristics, and compare results to those in 67 individuals with NIPBL variants. For the Netherlands all known individuals with SMC1A variants were studied, both with and without CdLS phenotype. Individuals with SMC1A variants can resemble CdLS, but manifestations are less marked compared to individuals with NIPBL variants: growth is less disturbed, facial signs are less marked (except for periocular signs and thin upper vermillion), there are no major limb anomalies, and they have a higher level of cognitive and adaptive functioning. Self-injurious behavior is more frequent and more severe in the NIPBL group. In the Dutch group 5 of 13 individuals (all females) had a phenotype that shows a remarkable resemblance to Rett syndrome: epileptic encephalopathy, severe or profound intellectual disability, stereotypic movements, and (in some) regression. Their missense, nonsense, and frameshift mutations are evenly spread over the gene. We conclude that SMC1A variants can result in a phenotype resembling CdLS and a phenotype resembling Rett syndrome. Resemblances between the SMC1A group and the NIPBL group suggest that a disturbed cohesin function contributes to the phenotype, but differences between these groups may also be explained by other underlying mechanisms such as moonlighting of the cohesin gene

Development, behaviour and autism in individuals with SMC1A variants

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Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

Stickler syndrome is an autosomal dominant connective tissue disorder caused by mutations in different collagen genes. The aim of our study was to define more precisely the phenotype and genotype of Stickler syndrome type 1 by investigating a large series of patients with a heterozygous mutation in COL2A1. In 188 probands with the clinical diagnosis of Stickler syndrome, the COL2A1 gene was analyzed by either a mutation scanning technique or bidirectional fluorescent DNA sequencing. The effect of splice site alterations was investigated by analyzing mRNA. Multiplex ligation-dependent amplification analysis was used for the detection of intragenic deletions. We identified 77 different COL2A1 mutations in 100 affected individuals. Analysis of the splice site mutations showed unusual RNA isoforms, most of which contained a premature stop codon. Vitreous anomalies and retinal detachments were found more frequently in patients with a COL2A1 mutation compared with the mutation-negative group (P<0.01). Overall, 20 of 23 sporadic patients with a COL2A1 mutation had either a cleft palate or retinal detachment with vitreous anomalies. The presence of vitreous anomalies, retinal tears or detachments, cleft palate and a positive family history were shown to be good indicators for a COL2A1 defect. In conclusion, we confirm that Stickler syndrome type 1 is predominantly caused by loss-of-function mutations in the COL2A1 gene as >90% of the mutations were predicted to result in nonsense-mediated decay. On the basis of binary regression analysis, we developed a scoring system that may be useful when evaluating patients with Stickler syndrome