1,451 research outputs found
Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene
Background: Golabi, Ito, and Hall reported a family with X linked mental retardation (XLMR), microcephaly, postnatal growth deficiency, and other anomalies, including atrial septal defect, in 1984.Methods: This family was restudied as part of our ongoing study of XLMR, but significant linkage to X chromosome markers could not be found. Extreme short stature and microcephaly as well as other new clinical findings were observed. Mutations in the polyglutamine tract binding protein 1 gene (PQBP1) have recently been reported in four XLMR disorders (Renpenning, Hamel cerebro-palato-cardiac, Sutherland-Haan, and Porteous syndromes) as well as in several other families. The clinical similarity of our family to these patients with mutations in PQBP1, particularly the presence of microcephaly, short stature, and atrial septal defect, prompted examination of this gene.Results: A missense mutation in PQBP1 was identified which changed the conserved tyrosine residue in the WW domain at position 65 to a cysteine (p.Y65C).Conclusions: This is the first missense mutation identified in PQBP1 and the first mutation in the WW domain of the gene. The WW domain has been shown to play an important role in the regulation of transcription by interacting with the PPxY motif found in transcription factors. The p.Y65C mutation may affect the proper functioning of the PQBP1 protein as a transcriptional co-activator
Age-dependent differences in human brain activity using a face- and location-matching task: An fMRI study
Purpose: To evaluate the differences of cortical activation patterns in young and elderly healthy subjects for object and spatial visual processing using a face- and location-matching task. Materials and Methods: We performed a face- and a location-matching task in 15 young (mean age: 28 +/- 9 years) and 19 elderly (mean age: 71 +/- 6 years) subjects. Each experiment consisted of 7 blocks alternating between activation and control condition. For face matching, the subjects had to indicate whether two displayed faces were identical or different. For location matching, the subjects had to press a button whenever two objects had an identical position. For control condition, we used a perception task with abstract images. Functional imaging was performed on a 1.5-tesla scanner using an EPI sequence. Results: In the face-matching task, the young subjects showed bilateral (right 1 left) activation in the occipito-temporal pathway (occipital gyrus, inferior and middle temporal gyrus). Predominantly right hemispheric activations were found in the fusiform gyrus, the right dorsolateral prefrontal cortex (inferior and middle frontal gyrus) and the superior parietal gyrus. In the elderly subjects, the activated areas in the right fronto-lateral cortex increased. An additional activated area could be found in the medial frontal gyrus (right > left). In the location-matching task, young subjects presented increased bilateral (right > left) activation in the superior parietal lobe and precuneus compared with face matching. The activations in the occipito-temporal pathway, in the right fronto-lateral cortex and the fusiform gyrus were similar to the activations found in the face-matching task. In the elderly subjects, we detected similar activation patterns compared to the young subjects with additional activations in the medial frontal gyrus. Conclusion: Activation patterns for object-based and spatial visual processing were established in the young and elderly healthy subjects. Differences between the elderly and young subjects could be evaluated, especially by using a face-matching task. Copyright (c) 2007 S. Karger AG, Basel
Finite-temperature magnetism of FePd and CoPt alloys
The finite-temperature magnetic properties of FePd and
CoPt alloys have been investigated. It is shown that the
temperature-dependent magnetic behaviour of alloys, composed of originally
magnetic and non-magnetic elements, cannot be described properly unless the
coupling between magnetic moments at magnetic atoms (Fe,Co) mediated through
the interactions with induced magnetic moments of non-magnetic atoms (Pd,Pt) is
included. A scheme for the calculation of the Curie temperature () for
this type of systems is presented which is based on the extended Heisenberg
Hamiltonian with the appropriate exchange parameters obtained from
{\em ab-initio} electronic structure calculations. Within the present study the
KKR Green's function method has been used to calculate the parameters.
A comparison of the obtained Curie temperatures for FePd and
CoPt alloys with experimental data shows rather good agreement.Comment: 10 pages, 12 figure
The Cultural Ecology of Leadership: An Analysis of Popular Leadership Books
Leadership is indisputably one of the most discussed, studied, and written-about topics in our society. A keyword search in the Expanded Academic Index for occurrences of the word leadership in a title or abstract reveals over 1,200 citations in the year 2000 alone. A subject search of leadership on Amazon.com returns more than 6,300 books on the subject, and over 1,400 hardcover books with leadership in the title are offered (Krohe, 2000). From Jesus CEO to 1001 Ways to Take Initiative at Work, fortunes are made (or not!) and fades are launched by many of these titles. But what wisdoms and lessons are truly to be gleaned from this popular genre of leadership writings? What techniques and approaches are most frequently utilized to deliver these so-called truisms? What can these leadership books tell us about how our society views the construct of leadership? And perhaps most importantly, how does this vast array of cultural knowledge about leadership and leadership processes affect leader-follower interactions? To answer these questions, we embarked on a qualitative and quantitative study of popular leadership books in order to understand this unique and fascinating genre
Optical Scattering Lengths in Large Liquid-Scintillator Neutrino Detectors
For liquid-scintillator neutrino detectors of kiloton scale, the transparency
of the organic solvent is of central importance. The present paper reports on
laboratory measurements of the optical scattering lengths of the organic
solvents PXE, LAB, and Dodecane which are under discussion for next-generation
experiments like SNO+, Hanohano, or LENA. Results comprise the wavelength range
from 415 to 440nm. The contributions from Rayleigh and Mie scattering as well
as from absorption/re-emission processes are discussed. Based on the present
results, LAB seems to be the preferred solvent for a large-volume detector.Comment: 9 pages, 3 figures, accepted for publication by Rev. Scient. Instr
Breast Cancer in Young Women - a Clinical Challenge to Be Addressed in a Multidisciplinary Setting
An assessment of sub-snow GPS for quantification of snow water equivalent
Global Navigation Satellite Systems (GNSS) contribute to various
Earth observation applications. The present study investigates the potential
and limitations of the Global Positioning System (GPS) to estimate in situ
water equivalents of the snow cover (snow water equivalent, SWE) by using
buried GPS antennas. GPS-derived SWE is estimated over three seasons
(2015/16–2017/18) at a high Alpine test site in Switzerland. Results are
validated against state-of-the-art reference sensors: snow scale, snow
pillow, and manual observations. SWE is estimated with a high correspondence
to the reference sensors for all three seasons. Results agree with a median
relative bias below 10 % and are highly correlated to the mean of the three
reference sensors. The sensitivity of the SWE quantification is assessed for
different GPS ambiguity resolution techniques, as the results strongly depend
on the GPS processing.</p
Identification of clinically relevant gene sets and pathways using functional models of breast tumor suppression
CANVAS: case report on a novel repeat expansion disorder with late-onset ataxia
This article presents the case of a 74-year-old female patient who first developed a progressive disease with sensory neuropathy, cerebellar ataxia and bilateral vestibulopathy at the age of 60 years. The family history was unremarkable. Magnetic resonance imaging (MRI) showed atrophy of the cerebellum predominantly in the vermis and atrophy of the spinal cord. The patient was given the syndromic diagnosis of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). In 2019 the underlying genetic cause of CANVAS was discovered to be an intronic repeat expansion in the RFC1 gene with autosomal recessive inheritance. The patient exhibited the full clinical picture of CANVAS and was tested positive for this repeat expansion on both alleles. The CANVAS is a relatively frequent cause of late-onset hereditary ataxia (estimated prevalence 5‑13/100,000). In contrast to the present patient, the full clinical picture is not always present. Therefore, testing for the RFC1 gene expansion is recommended in the work-up of patients with otherwise unexplained late-onset sporadic ataxia. As intronic repeat expansions cannot be identified by next generation sequencing methods, specific testing is necessary
Analyses and localization of pectin-like carbohydrates in cell wall and mucilage of the green alga Netrium digitus
The unicellular, simply shaped desmid Netrium digitus inhabiting acid bog ponds grows in two phases. Prior to division, the cell elongates at its central zone, whereas in a second phase, polar tip growth occurs. Electron microscopy demonstrates that Netrium is surrounded by a morphologically homogeneous cell wall, which lacks pores. Immunocytochemical and biochemical analyses give insight into physical wall properties and, thus, into adaptation to the extreme environment. The monoclonal antibodies JIM5 and JIM7 directed against pectic epitopes with different degrees of esterification label preferentially growing wall zones in Netrium. In contrast, 2F4 marks the cell wall only after experimental de-esterification. Electron energy loss spectroscopy reveals Ca-binding capacities of pectins and gives indirect evidence for the degree of their esterification. An antibody raised against Netrium mucilage is not only specific to mucilage but also recognizes wall components in transmission electron microscopy and dot blots. These results indicate a smooth transition between mucilage and the cell wall in Netrium
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