bluuebunny/crossref_metadata_2025_split huggingface dataset:
Kleefstra syndrome in three adult patients: Further delineation of the behavioral and neurological phenotype shows aspects of a neurodegenerative course
Authors: Verhoeven Willem M.A. , Egger Jos I.M. , Vermeulen Karlijn , van de Warrenburg Bart P.C. , Kleefstra Tjitske 
Published: September 2011

AbstractKleefstra syndrome (KS), previously known as the 9q subtelomeric deletion syndrome (9qSTDS) is caused by haploinsufficiency of the EHMT1 gene. Both a single mutation and 9q34 microdeletions encompassing the entire gene can be responsible for this syndrome which is characterized by intellectual disability, hypotonia, and typical dysmorphisms, and may be associated with congenital heart and/or renal defects and epilepsy. Its behavioral phenotype has recently been described and comprises particular sleep disturbances and apathy. In this report, the evolution of the behavioral profile of KS is outlined by the description of three female patients aged 19, 33, and 43 years, respectively. In two patients, the syndrome was caused by an intragenic mutation and in the third by a 9q34 microdeletion encompassing the EHMT1 gene. MRI scanning of the brain in the two eldest patients demonstrated multifocal subcortical signal abnormalities. In general, the severity of the behavioral and motor deficiencies increased over time and became apparent after adolescence. It is concluded that the “regressive” phenotype of KS seems to be associated with the EHMT1 gene in particular. In addition, the utility of uncritical use of a classificatory diagnostic approach is discussed in the context of the motor and motivational disturbances that are prominent in this syndrome. © 2011 Wiley‐Liss, Inc.
Two sisters resembling Gorlin–Chaudhry–Moss syndrome
Authors: Aravena Teresa , Passalacqua Cristóbal , Pizarro Oscar , Aracena Mariana 
Published: September 2011

AbstractThe Gorlin–Chaudhry–Moss syndrome (GCMS), was describe initially by Gorlin et al. [Gorlin et al. (1960)] in two sisters with craniosynostosis, hypertrichosis, hypoplastic labia majora, dental defects, eye anomalies, patent ductus arteriosus, and normal intelligence. Two other sporadic instances have been documented. Here, we report on two sisters with a condition with some similarities to GCMS as well as some differences, which could represent either previously unreported variability in GCMS, or it may represent a novel disorder. © 2011 Wiley‐Liss, Inc.
Eighteen‐year follow‐up of a patient with cobalamin F disease (cblF): Report and review
Authors: Alfadhel Majid , Lillquist Yolanda P. , Davis Cynthia , Junker Anne K. , Stockler‐Ipsiroglu Sylvia 
Published: September 2011

AbstractCobalamin F disease (cblF) is a rare disorder of intracellular cobalamin metabolism resulting in failure to thrive, recurrent stomatitis, skin rash, megaloblastic anemia, hypotonia, seizures, and intellectual disability. Data on long‐term outcomes are not available. We report on the outcome of a patient with cblF disease with a frameshift mutation in the LMBRD1 gene after 18 years of intramuscular hydroxycobalamin treatment. © 2011 Wiley‐Liss, Inc.
Having a brother or sister with Down syndrome: Perspectives from siblings
Authors: Skotko Brian G. , Levine Susan P. , Goldstein Richard 
Published: September 2011

AbstractThis study asks brothers and sisters about their feelings and perceptions toward their sibling with Down syndrome (DS). We analyzed valid and reliable surveys from 822 brothers and sisters whose families were on the mailing lists of six non‐profit DS organizations around the country. More than 96% of brothers/sisters that responded to the survey indicated that they had affection toward their sibling with DS; and 94% of older siblings expressed feelings of pride. Less than 10% felt embarrassed, and less than 5% expressed a desire to trade their sibling in for another brother or sister without DS. Among older siblings, 88% felt that they were better people because of their siblings with DS, and more than 90% plan to remain involved in their sibling's lives as they become adults. The vast majority of brothers and sisters describe their relationship with their sibling with DS as positive and enhancing. © 2011 Wiley‐Liss, Inc.
Self‐perceptions from people with Down syndrome
Authors: Skotko Brian G. , Levine Susan P. , Goldstein Richard 
Published: September 2011

AbstractThis study asks people with Down syndrome (DS), ages 12 and older, about their self‐perception so that their information could be shared with new and expectant parents of children with DS. We analyzed valid and reliable survey instruments from 284 people with DS on the mailing lists of 6 non‐profit DS organizations around the country. Among those surveyed, nearly 99% of people with DS indicated that they were happy with their lives, 97% liked who they are, and 96% liked how they look. Nearly 99% people with DS expressed love for their families, and 97% liked their brothers and sisters. While 86% of people with DS felt they could make friends easily, those with difficulties mostly had isolating living situations. A small percentage expressed sadness about their life. In our qualitative analysis, people with DS encouraged parents to love their babies with DS, mentioning that their own lives were good. They further encouraged healthcare professionals to value them, emphasizing that they share similar hopes and dreams as people without DS. Overall, the overwhelming majority of people with DS surveyed indicate they live happy and fulfilling lives. © 2011 Wiley‐Liss, Inc.
Luminescence measurements of Xe+ + N2 and Xe2+ + N2 hyperthermal charge transfer collisions
Authors: Prince Benjamin D. , Chiu Yu-Hui 
Published: September 2011

Luminescence spectra are recorded for collisions between Xe+/Xe2+ and molecular nitrogen at energies ranging from 4.5 to 316 eV in the center-of-mass frame. In the Xe+ + N2 collision system, evidence for luminescent charge-transfer products is only found through Xe I emission lines. The most intense features of the luminescence spectra are attributed to atomic N emissions observed above ∼20 eV. Intense ${\rm N}_{2}^{+}$N2+ A 2Πu − ${\rm X}\;^{2}\Sigma_{\rm g}^{+}$X2Σg+ and ${\rm B}\;^{2}\Sigma_{\rm u}^{+}$B2Σu+ − ${\rm X}\;^{2}\Sigma_{\rm g}^{+}$X2Σg+ radiance is observed from Xe2+ + N2 collisions. The B state formation cross section decreases with collision energy until 20 eV, after which it becomes independent of impact energy with an approximate value of 3 Å2. The cross section for ${\rm N}_{2}^{+}$N2+ A (v &gt; 0) formation increases with energy until 20 eV, after which it remains nearly constant at ∼1 Å2. The ${\rm N}_{2}^{+}$N2+ product vibrational distributions extracted from the spectra are non-Franck-Condon for both electronic product states at low collision energies. The distributions resemble a Franck-Condon distribution at the highest energies investigated in this work.
High energy resolution bandpass photon detector for inverse photoemission spectroscopy
Authors: Maniraj M. , D’Souza S. W. , Nayak J. , Rai Abhishek , Singh Sanjay , Sekhar B. N. Raja , Barman S. R. 
Published: September 2011

We report a bandpass ultraviolet photon detector for inverse photoemission spectroscopy with energy resolution of 82 ± 2 meV. The detector (Sr0.7Ca0.3F2/acetone) consists of Sr0.7Ca0.3F2 entrance window with energy transmission cutoff of 9.85 eV and acetone as detection gas with 9.7 eV photoionization threshold. The response function of the detector, measured using synchrotron radiation, has a nearly Gaussian shape. The n = 1 image potential state of Cu(100) and the Fermi edge of silver have been measured to demonstrate the improvement in resolution compared to the CaF2/acetone detector. To show the advantage of improved resolution of the Sr0.7Ca0.3F2/acetone detector, the metal to semiconductor transition in Sn has been studied. The pseudogap in the semiconducting phase of Sn could be identified, which is not possible with the CaF2/acetone detector because of its worse resolution.
Dissection of the Transcriptional Program Regulating Secondary Wall Biosynthesis during Wood Formation in Poplar
Authors: Zhong Ruiqin , McCarthy Ryan L. , Lee Chanhui , Ye Zheng-Hua 
Published: September 2011

Abstract
Wood biomass is mainly made of secondary cell walls; hence, elucidation of the molecular mechanisms underlying the transcriptional regulation of secondary wall biosynthesis during wood formation will be instrumental to design strategies for genetic improvement of wood biomass. Here, we provide direct evidence demonstrating that the poplar (Populus trichocarpa) wood-associated NAC domain transcription factors (PtrWNDs) are master switches activating a suite of downstream transcription factors, and together, they are involved in the coordinated regulation of secondary wall biosynthesis during wood formation. We show that transgenic poplar plants with dominant repression of PtrWNDs functions exhibit a drastic reduction in secondary wall thickening in woody cells, and those with PtrWND overexpression result in ectopic deposition of secondary walls. Analysis of PtrWND2B overexpressors revealed up-regulation of the expression of a number of wood-associated transcription factors, the promoters of which were also activated by PtrWND6B and the Eucalyptus EgWND1. Transactivation analysis and electrophoretic mobility shift assay demonstrated that PtrWNDs and EgWND1 activated gene expression through direct binding to the secondary wall NAC-binding elements, which are present in the promoters of several wood-associated transcription factors and a number of genes involved in secondary wall biosynthesis and modification. The WND-regulated transcription factors PtrNAC150, PtrNAC156, PtrNAC157, PtrMYB18, PtrMYB74, PtrMYB75, PtrMYB121, PtrMYB128, PtrZF1, and PtrGATA8 were able to activate the promoter activities of the biosynthetic genes for all three major wood components. Our study has uncovered that the WND master switches together with a battery of their downstream transcription factors form a transcriptional network controlling secondary wall biosynthesis during wood formation.
Structural and Functional Assays of AtTLP18.3 Identify Its Novel Acid Phosphatase Activity in Thylakoid Lumen
Authors: Wu Hsin-Yi , Liu Mao-Sen , Lin Tsan-Piao , Cheng Yi-Sheng 
Published: September 2011

Abstract
The membrane protein AtTLP18.3 of Arabidopsis (Arabidopsis thaliana) contains a domain of unknown function, DUF477; it forms a polysome with photosynthetic apparatuses in the thylakoid lumen. To explore the molecular function of AtTLP18.3, we resolved its crystal structures with residues 83 to 260, the DUF477 only, and performed a series of biochemical analyses to discover its function. The gene expression of AtTLP18.3 followed a circadian rhythm. X-ray crystallography revealed the folding of AtTLP18.3 as a three-layer sandwich with three α-helices in the upper layer, four β-sheets in the middle layer, and two α-helices in the lower layer, which resembles a Rossmann fold. Structural comparison suggested that AtTLP18.3 might be a phosphatase. The enzymatic activity of AtTLP18.3 was further confirmed by phosphatase assay with various substrates (e.g. p-nitrophenyl phosphate, 6,8-difluoro-4-methylumbelliferyl phosphate, O-phospho-l-serine, and several synthetic phosphopeptides). Furthermore, we obtained the structure of AtTLP18.3 in complex with O-phospho-l-serine to identify the binding site of AtTLP18.3. Our structural and biochemical studies revealed that AtTLP18.3 has the molecular function of a novel acid phosphatase in the thylakoid lumen. DUF477 is accordingly renamed the thylakoid acid phosphatase domain.
Targeted Identification of Short Interspersed Nuclear Element Families Shows Their Widespread Existence and Extreme Heterogeneity in Plant Genomes
Authors: Wenke Torsten , Döbel Thomas , Sörensen Thomas Rosleff , Junghans Holger , Weisshaar Bernd , Schmidt Thomas 
Published: September 2011

Abstract
Short interspersed nuclear elements (SINEs) are non-long terminal repeat retrotransposons that are highly abundant, heterogeneous, and mostly not annotated in eukaryotic genomes. We developed a tool designated SINE-Finder for the targeted discovery of tRNA-derived SINEs. We analyzed sequence data of 16 plant genomes, including 13 angiosperms and three gymnosperms and identified 17,829 full-length and truncated SINEs falling into 31 families showing the widespread occurrence of SINEs in higher plants. The investigation focused on potato (Solanum tuberosum), resulting in the detection of seven different SolS SINE families consisting of 1489 full-length and 870 5′ truncated copies. Consensus sequences of full-length members range in size from 106 to 244 bp depending on the SINE family. SolS SINEs populated related species and evolved separately, which led to some distinct subfamilies. Solanaceae SINEs are dispersed along chromosomes and distributed without clustering but with preferred integration into short A-rich motifs. They emerged more than 23 million years ago and were species specifically amplified during the radiation of potato, tomato (Solanum lycopersicum), and tobacco (Nicotiana tabacum). We show that tobacco TS retrotransposons are composite SINEs consisting of the 3′ end of a long interspersed nuclear element integrated downstream of a nonhomologous SINE family followed by successfully colonization of the genome. We propose an evolutionary scenario for the formation of TS as a spontaneous event, which could be typical for the emergence of SINE families.
New perspectives on the convergence of academic libraries and campus information technology departments
Authors: Joint Nicholas 
Published: September 2011

PurposeThe purpose of this paper is to give some insight into current evidence about the value of converging library and information technology departments into single organisational units.Design/methodology/approachA narrative account of attempts to merge libraries, IT departments and other campus support services, with analysis supported by a selected, representative number of published case studies. A conclusion is offered that emphasises the practical benefits of convergence at the level of the working library professional and everyday library user.FindingsThe recent history of convergence has moved through three phases: an early period of optimistic and energetic commitment to the idea of merging IT and library services, gave way to an interim stage of reflection and reconsideration during which some degree of “deconvergence” took place. After this pause, a new dynamic was created, associated both with the trend towards “super‐convergence”, and also with new, more pragmatic ideas about how to bring workers from different professional traditions together.Originality/valueThe paper attempts to give some highly contemporary insights into the latest thinking and developments on the topic in question, and emphasises the importance of relating abstract management strategies to practical organisational outcomes.
Business model dynamics and innovation: (re)establishing the missing linkages
Authors: Cavalcante Sérgio , Kesting Peter , Ulhøi John 
Published: September 2011

PurposeThis paper aims to discuss the need to dynamize the existing conceptualization of business model, and proposes a new typology to distinguish different types of business model change.Design/methodology/approachThe paper integrates basic insights of innovation, business process and routine research into the concept of business model. The main focus of the paper is on strategic and terminological issues.FindingsThe paper offers a new, process‐based conceptualization of business model, which recognizes and integrates the role of individual agency. Based on this, it distinguishes and specifies four different types of business model change: business model creation, extension, revision, and termination. Each type of business model change is associated with specific challenges.Practical implicationsThe proposed typology can serve as a basis for developing a management tool to evaluate the impact of specific changes to a firm's business model. Such a tool would be particularly useful in identifying path dependencies and resistance at the process level, and would therefore allow a firm's management to take focused action on this in advance.Originality/valueThe paper makes two main contributions: first, it offers a new, process‐based conceptualization of business models; second, it is the first paper to establish a direct link between business model change and the degree of innovation (such as “incremental” vs “radical”), and which distinguishes and specifies different types of business model change.
Sustainability managers or rogue mid‐managers?
Authors: Tang Kevin , Robinson David A. , Harvey Michael 
Published: September 2011

PurposeThis paper aims to look into the motivations of managers to commit their time and energies to look at environmental, social, and ethical issues. In short, this research set out to answer the following research questions: What are the different types of change agents for sustainability, in terms of their existential needs? What are the motivations and frustrations faced by sustainability managers as change agents? and How are the motivations and frustrations of sustainability managers framed by the sources of meaning in their life and work?Design/methodology/approachAs the research is still at an exploratory stage, a qualitative methodology was adopted. This methodology was also appropriate for the purpose of this research, which was focused on studying how meaning emerges and changes in situated organizational settings. The authors were engaged in 27 value‐laden semi‐structured interviews where they were looking to build a close relationship between the researcher and what was studied. The interview process was divided into three phases to ensure the planning and validity of the process.FindingsIt identifies four such categories of sustainability managers, those being Scientist, Messenger, Artist and Storyteller. The findings suggest the key role of expertise, empowerment, values, inspiration, strategic thinking and social contribution as key meaning for these managers. The empirical findings help build on understanding of the different psychological dimensions of corporate sustainability management, and provides a useful tool for developing effective organizational leadership, enhancing recruitment and retention of sustainability talent, and improving individual and team performance for key sustainability growth.Originality/valueThis research has helped to deal application of existential psychology theories to complement corporate sustainability. The findings more or less confirm the usability of major existential psychology theories to find sources of motivations of sustainability managers.
A leadership point of view: key principles
Authors: Wills Stefan 
Published: September 2011

PurposeThis paper aims to understand what leadership is and how it occurs within organizations.Design/methodology/approachHighlights four key principles which serve as a guiding template or frame of reference to help enhance managers' confidence and credibility and encourage strong leadership inside an organization.FindingsFollowers choose our leaders – leaders do not choose their followers. This kind of relationship and connection between people goes beyond the transactional (i.e. managers and their direct reports) and into the realm of the transformational.Practical implicationsThe phenomenon we call leadership/followership is an episodic series of events intending significant change. So, to be clear, leadership does not reside in a person or even several persons; it resides in a dynamic and ever‐changing relationship among people.Originality/valueCreating leadership energy is an inside job, the stimulus for it comes from inside an individual. It can come from inside any individual of any type. This sits in opposition to the view that there is a universal list of character traits which determines who becomes a leader in any culture or any industry.
Interview with Lara Morgan, author of More Balls than Most
Authors: by Juliet Harrison Interview 
Published: September 2011

PurposeThe purpose of this article is to provide an interview with Lara Morgan, founder and former CEO of Pacific Direct and author of More Balls than Most.Design/methodology/approachThis briefing is prepared by an independent interviewerFindingsLara Morgan is the founder and former CEO of Pacific Direct. Basically a “world‐class saleswoman” with a massive belief in herself and her company, she revolutionized the hotel amenities market, bringing together some of the most famous brands in the world, such as Bulgari, Aveda, The White Company and Penhaligon's.Practical implicationsLara has worked for 25 years and tried to gather every technique around growing a business, by asking others to offer their expertise in all sorts of areas. She has put all this information online, so that any business leader (or any person) can download and apply in their own company, with the objective of improving growth, improving efficiency and recruiting better people.Originality/valueLara discusses her book: More Balls than Most, which covers every aspect of building a profitable business, from learning to display the confidence needed to make those vital first contacts to implementing the creative decisions that will set your business apart from the rest to developing a company culture that will maintain momentum and deliver growth.
Ex ante variables and carve‐out parent returns
Authors: Thompson Thomas H. 
Published: September 2011

PurposeThe purpose of this paper is to provide a comprehensive initial evaluation of the changing issuer objective and partial price adjustment hypotheses as applied to carve‐out parent initial and three‐year returns for the period 1988‐2006.Design/methodology/approachUsing five primary variables: the percentage of the subsidiary retained by the parent, the ratio of offering size to parent market capitalization, filing range adjustments, the percentage of the offering used to retire subsidiary debt or to pay dividends, and the CBOE volatility index to predict initial and three‐year returns, the paper shows that ex ante variables can predict carve‐out parent initial and three‐year returns.FindingsThe paper shows that public information known prior to the offer date influences 7.52 percent of the variation in announcement, 5.57‐38.31 percent of the variation in ex‐date and 6 percent of the variation in three‐year market‐adjusted equity carve‐out parent returns.Originality/valueThis study makes several contributions to the literature. Although prior studies focus on ex post determinants of equity carve‐out returns, this study is the first to explore ex ante predictors of equity carve‐out parent returns. The implications of these results are that publicly available information known prior to the carve‐out offering date can influence market‐adjusted initial and three‐year parent carve‐out returns and can explain 6‐17 percent of the variation.