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Record 1NoRC--a novel member of mammalian ISWI-containing chromatin remodeling machines. Strohner R; Nemeth A; Jansa P; Hofmann-Rohrer U; Santoro R; Langst G; Grummt I Division of Molecular Biology of the Cell II, Deutsches Krebsforschungszentrum, D-69120 Heidelberg and Adolf-Butenandt-Institut, Schillerstrasse 44, D-80336 Munchen, Germany. EMBO journal (England) Sep 3 2001, 20 (17) p4892-900, ISSN 0261-4189 Languages: ENGLISH Document type: Journal Article Record type: Completed
Transcription by RNA polymerase I on nucleosomal templates requires binding of the transcription termination factor TTF-I to a cognate site 160 bp upstream of the transcription start site. Binding of TTF-I is accompanied by changes in the chromatin architecture which suggests that TTF-I recruits a remodeling activity to the rDNA promoter. We have cloned a cDNA that encodes TIP5 (TTF-I-interacting protein 5), a 205 kDa protein that shares a number of important protein domains with WSTF (Williams syndrome transcription factor) and hAcf1/WCRF180, the largest subunits of human chromatin remodeling complexes hCHRAC and WCRF. TIP5 co-localizes with the basal RNA polymerase I transcription factor UBF in the nucleolus and is associated with SNF2h. The cellular TIP5-SNF2h complex, termed NoRC (nucleolar remodeling complex), induces nucleosome sliding in an ATP- and histone H4 tail-dependent fashion. The results suggest that NoRC is a novel nucleolar chromatin remodeling machine that may serve a role in the regulation of the rDNA locus. Record Date Created: 20010904
Record 2Williams syndrome and deficiency in visuospatial recognition. Nakamura M; Watanabe K; Matsumoto A; Yamanaka T; Kumagai T; Miyazaki S; Matsushima M; Mita K Institute for Developmental Research, Aichi Human Service Centre, Kasugai, Japan. [email protected] Developmental medicine and child neurology (England) Sep 2001, 43 (9) p617-21, ISSN 0012-1622 Languages: ENGLISH Document type: Clinical Trial; Journal Article Record type: Completed
This study aimed to assess the visuospatial abilities of five children with Williams syndrome (four males aged 9 years 3 months, 7 years 11 months, 8 years 1 month, and 10 years 8 months respectively, and one female aged 6 years 3 months). First, the children's visuospatial abilities were examined by asking them to copy a figure. Second, their cognitive processing abilities were assessed using the Japanese Kaufman Assessment Battery for Children. This test was used because it is an objective one, standardized in Japan, and is a measure of fluid ability including spatial localization. Participants scored significantly low on the spatial memory subtest indicating that there was a deficit in spatial localization. Children's performance in line copying tasks improved when the dots were in colour. Results suggest a deficit in the dorsal stream of visual cognition, with a relatively preserved ventral stream. Record Date Created: 20010925
Record 3Record - 3 [Effective use of electrolized soft acid aqueous solution for treatment of mediastinitis following cardiac surgery] Honma Y; Koshino T; Komatsu K; Tsukamoto M; Abe T Department of Thoracic and Cardiovascular Surgery, Sapporo Medical University School of Medicine, Sapporo, Japan. Kyobu geka (Japan) Sep 2001, 54 (10) p839-41, ISSN 0021-5252 Languages: JAPANESE Document type: Journal Article ; English Abstract Record type: Completed
Mediastinitis following cardiac surgery occurs infrequently, but features both high mortality and morbidity, especially in patients with an artificial graft. A 24-year-old man was admitted with a diagnosis of Williams'syndrome with supraaortic stenosis. After ascending aorta and hemiarch reconstruction, mediastinitis developed, which was treated successfully with mediastinal irrigation using electrolized soft acid aqueous solution at one liter per day for 3 days. This procedure appears to be an effective method for treatment of mediastinitis following cardiac surgery. Record Date Created: 20010913
Record 4Disordered visual processing and oscillatory brain activity in autism and Williams syndrome. Grice SJ; Spratling MW; Karmiloff-Smith A; Halit H; Csibra G; de Haan M; Johnson MH Neurocognitive Development Unit, Institute of Child Health, London WC1N 1EH, UK. Neuroreport (England) Aug 28 2001, 12 (12) p2697-700, ISSN 0959-4965 Languages: ENGLISH Document type: Clinical Trial; Controlled Clinical Trial; Journal Article Record type: Completed
Two developmental disorders, autism and Williams syndrome, are both commonly described as having difficulties in integrating perceptual features, i.e. binding spatially separate elements into a whole. It is already known that healthy adults and infants display electroencephalographic (EEG) gamma-band bursts (around 40 Hz) when the brain is required to achieve such binding. Here we explore gamma-band EEG in autism and Williams Syndrome and demonstrate differential abnormalities in the two phenotypes. We show that despite putative processing similarities at the cognitive level, binding in Williams syndrome and autism can be dissociated at the neurophysiological level by different abnormalities in underlying brain oscillatory activity. Our study is the first to identify that binding-related gamma EEG can be disordered in humans. Record Date Created: 20010827
Record 5[Cognitive, personality and behavioral characteristics -- social incidence] Aspects cognitifs, de personnalite et de comportement--incidences sociales. Meljac C; Lemmel G Unite de bio-psychopathologie de l'enfant et de l'adolescent, service de psychologie et de psychiatrie de l'enfant et de l'adolescent, hopital Sainte-Anne, 1, rue Cabanis, 75014 Paris, France. Archives de pediatrie (France) May 2001, 8 Suppl 2 p357s-359s, ISSN 0929-693X Languages: FRENCH Document type: Journal Article Record type: Completed Record Date Created: 2001060
Record 6[Physiopathology of Williams' syndrome arteriopathy] Physiopathologie de l'arteriopathie du syndrome de Williams. Bonnet D; Aggoun Y; Dridi M; Sidi D; Kachaner J; Godeau G Inserm 0016, service de cardiologie pediatrique, hopital Necker-Enfants Malades, 149, rue de Sevres, 75743 Paris, France. Archives de pediatrie (France) May 2001, 8 Suppl 2 p355s-356s, ISSN 0929-693X Languages: FRENCH Document type: Journal Article Record type: Completed Record Date Created: 20010607 Record 7
[Molecular genetics of Williams' syndrome] Genetique moleculaire du syndrome de Williams. Philip N Departement de genetique medicale, hopital d'Enfants de la Timone, 13385 Marseille, France. Archives de pediatrie (France) May 2001, 8 Suppl 2 p353s-354s, ISSN 0929-693X Languages: FRENCH Document type: Journal Article Record type: Completed Record Date Created: 20010607
Record 8Learning to read in Williams syndrome: looking beneath the surface of atypical reading development. Laing E; Hulme C; Grant J; Karmiloff-Smith A Neurocognitive Development Unit, Institute of Child Health, London, UK. [email protected] Journal of child psychology and psychiatry, and allied disciplines (England) Sep 2001, 42 (6) p729-39, ISSN 0021-9630 Languages: ENGLISH Document type: Journal Article Record type: In Process
In this paper, we make a fundamental distinction between literacy attainment scores and the actual process of learning to read, and examine these two aspects of reading in atypical development. Reading skills in a group of children and adults with the genetic disorder Williams syndrome (WS) were compared to a group of typically developing children matched for reading age and receptive vocabulary scores. Study 1 focused on the product of reading and explored the relationship between reading, general cognition, and phonological skills. Phonological skills were shown to be related to individual differences in reading attainment in both groups, although more weakly in the WS group. Experiment 2 examined the process of learning to read. The two groups were taught to associate abbreviated spellings (cues) with spoken words. The cues differed in their phonetic closeness to the target words, whereas the target words differed on the semantic variable of imageability. Compared to controls, the WS group showed slower learning, less sensitivity to the phonetic quality of the cue, and reduced influence from the imageability of words. The results support the hypothesis that although reading levels in WS depend on phonological skills, the full development of their reading is compromised by weak semantics. The studies highlight the importance in atypical populations of examining both reading levels and the actual process of learning to read. Record Date Created: 20011003
Record 9Block design performance in the Williams syndrome phenotype: a problem with mental imagery? Farran EK; Jarrold C; Gathercole SE Department of Experimental Psychology, University of Bristol, UK. [email protected] Journal of child psychology and psychiatry, and allied disciplines (England) Sep 2001, 42 (6) p719-28, ISSN 0021-9630 Languages: ENGLISH Document type: Journal Article Record type: In Process
Williams syndrome (WS) is a rare genetic disorder which, among other characteristics, has a distinctive cognitive profile. Nonverbal abilities are generally poor in relation to verbal abilities, but also show varying levels of ability in relation to each other. Performance on block construction tasks represents arguably the weakest nonverbal ability in WS. In this study we examined two requirements of block construction tasks in 21 individuals with WS and 21 typically developing (TD) control individuals. The Squares tasks, a novel two-dimensional block construction task, manipulated patterns by segmentation and perceptual cohesiveness to investigate the first factor, processing preference (local or global), and by obliqueness to examine the second factor, the ability to use mental imagery. These two factors were investigated directly by the Children's Embeded Figures Test (CEFT; Witkin, Oltman, Raskin, & Karp, 1971) and a mental rotation task respectively. Results showed that individuals with WS did not differ from the TD group in their processing style. However, the ability to use mental imagery was significantly poorer in the WS group than the TD group. This suggests that weak performance on the block construction tasks in WS may relate to an inability to use mental imagery. Record Date Created: 20011003
Record 10Annotation: The cognitive neuroscience of face recognition: implications for developmental disorders. Elgar K; Campbell R University College London, UK. [email protected] Journal of child psychology and psychiatry, and allied disciplines (England) Sep 2001, 42 (6) p705-17, ISSN 0021-9630 Languages: ENGLISH Document type: Journal Article Record type: In Process
Face recognition is often considered to be a modular (encapsulated) function. This annotation supports the proposal that faces are special, but suggests that their identification makes use of general-purpose cortical systems that are implicated in high-level vision and also in memory and learning more generally. These systems can be considered to function within two distinct cortical streams: a medial stream (for learning and salience of faces encountered) and a lateral stream (for distributed representations of visual properties and identities of faces). Function in the lateral stream, especially, may be critically dependent on the normal development of magnocellular vision. The relevance of face recognition anomalies in three developmental syndromes (Autism, Williams syndrome, and Turner syndrome) and the two-route model sketched above is considered. Record Date Created: 20011003
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