bluuebunny/crossref_metadata_2025_split huggingface dataset:
A case of cerebral hypomyelination with spondylo‐epi‐metaphyseal dysplasia
Authors: Kimura‐Ohba Shihoko , Kagitani‐Shimono Kuriko , Hashimoto Natsuko , Nabatame Shin , Okinaga Takeshi , Murakami Akira , Miyake Noriko , Matsumoto Naomichi , Osaka Hitoshi , Hojo Keiko , Tomita Reiko , Taniike Masako , Ozono Keiichi 
Published: December 2012

AbstractWe reported on a male patient with rare leukoencephalopathy and skeletal abnormalities. The condition was first noticed as a developmental delay, nystagmus and ataxia at 1 year of age. At 4 years of age, he was diagnosed as hypomyelination with skeletal abnormalities from clinical features, brain magnetic resonance imaging (MRI) and skeletal X‐rays. His brain MRI revealed diffuse hypomyelination. These findings suggested the classical type of Pelizaeus–Merzbacher disease (PMD) caused by proteolipid protein (PLP)‐1 gene or Pelizaeus–Merzbacher‐like disease (PMLD). However, we found neither mutation nor duplication of PLP‐1. The patient had severe growth retardation and general skeletal dysplasia compatible with spondylo‐epi‐metaphyseal dysplasia; however the mutation of discoidin domain receptor (DDR) 2 gene was absent. The co‐morbidity of hypomyelination with skeletal abnormalities is rare. We performed array CGH and no causal copy number variation was recognized. Alternatively, this condition may have been caused by a mutation of the gene encoding a molecule that functions in both cerebral myelination and skeletal development. © 2012 Wiley Periodicals, Inc.
Duplication of 20p12.3 associated with familial Wolff–Parkinson–White syndrome
Authors: Mills Kimberly I. , Anderson Jacqueline , Levy Philip T. , Cole F. Sessions , Silva Jennifer N.A. , Kulkarni Shashikant , Shinawi Marwan 
Published: December 2012

AbstractWolff–Parkinson–White (WPW) syndrome is caused by preexcitation of the ventricular myocardium via an accessory pathway which increases the risk for paroxysmal supraventricular tachycardia. The condition is often sporadic and of unknown etiology in the majority of cases. Autosomal dominant inheritance and association with congenital heart defects or ventricular hypertrophy were described. Microdeletions of 20p12.3 have been associated with WPW syndrome with either cognitive dysfunction or Alagille syndrome. Here, we describe the association of 20p12.3 duplication with WPW syndrome in a patient who presented with non‐immune hydrops. Her paternal uncle carries the duplication and has attention‐deficit hyperactivity disorder and electrocardiographic findings consistent with WPW. The 769 kb duplication was detected by the Affymetrix Whole Genome‐Human SNP Array 6.0 and encompasses two genes and the first two exons of a third gene. We discuss the potential role of the genes in the duplicated region in the pathogenesis of WPW and possible neurobehavioral abnormalities. Our data provide additional support for a significant role of 20p12.3 chromosomal rearrangements in the etiology of WPW syndrome. © 2012 Wiley Periodicals, Inc.
Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene
Authors: Lohmann Katja , Wilcox Robert A. , Winkler Susen , Ramirez Alfredo , Rakovic Aleksandar , Park Jin‐Sung , Arns Björn , Lohnau Thora , Groen Justus , Kasten Meike , Brüggemann Norbert , Hagenah Johann , Schmidt Alexander , Kaiser Frank J. , Kumar Kishore R. , Zschiedrich Katja , Alvarez‐Fischer Daniel , Altenmüller Eckart , Ferbert Andreas , Lang Anthony E. , Münchau Alexander , Kostic Vladimir , Simonyan Kristina , Agzarian Marc , Ozelius Laurie J. , Langeveld Antonius P. M. , Sue Carolyn M. , Tijssen Marina A. J. , Klein Christine 
Published: December 2012

ObjectiveA study was undertaken to identify the gene underlying DYT4 dystonia, a dominantly inherited form of spasmodic dysphonia combined with other focal or generalized dystonia and a characteristic facies and body habitus, in an Australian family.MethodsGenome‐wide linkage analysis was carried out in 14 family members followed by genome sequencing in 2 individuals. The index patient underwent a detailed neurological follow‐up examination, including electrophysiological studies and magnetic resonance imaging scanning. Biopsies of the skin and olfactory mucosa were obtained, and expression levels of TUBB4 mRNA were determined by quantitative real‐time polymerase chain reaction in 3 different cell types. All exons of TUBB4 were screened for mutations in 394 unrelated dystonia patients.ResultsThe disease‐causing gene was mapped to a 23cM region on chromosome 19p13.3‐p13.2 with a maximum multipoint LOD score of 5.338 at markers D9S427 and D9S1034. Genome sequencing revealed a missense variant in the TUBB4 (tubulin beta‐4; Arg2Gly) gene as the likely cause of disease. Sequencing of TUBB4 in 394 unrelated dystonia patients revealed another missense variant (Ala271Thr) in a familial case of segmental dystonia with spasmodic dysphonia. mRNA expression studies demonstrated significantly reduced levels of mutant TUBB4 mRNA in different cell types from a heterozygous Arg2Gly mutation carrier compared to controls.InterpretationA mutation in TUBB4 causes DYT4 dystonia in this Australian family with so‐called whispering dysphonia, and other mutations in TUBB4 may contribute to spasmodic dysphonia. Given that TUBB4 is a neuronally expressed tubulin, our results imply abnormal microtubule function as a novel mechanism in the pathophysiology of dystonia. Ann Neurol 2013;73:537–545
Welander distal myopathy is caused by a mutation in the RNA‐binding protein TIA1
Authors: Hackman Peter , Sarparanta Jaakko , Lehtinen Sara , Vihola Anna , Evilä Anni , Jonson Per Harald , Luque Helena , Kere Juha , Screen Mark , Chinnery Patrick F. , Åhlberg Gabrielle , Edström Lars , Udd Bjarne 
Published: December 2012

ObjectiveA study was undertaken to identify the molecular cause of Welander distal myopathy (WDM), a classic autosomal dominant distal myopathy.MethodsThe genetic linkage was confirmed and defined by microsatellite and single nucleotide polymorphism haplotyping. The whole linked genomic region was sequenced with targeted high‐throughput and Sanger sequencing, and coding transcripts were sequenced on the cDNA level. WDM muscle biopsies were studied by Western blotting and immunofluorescence microscopy. Splicing of TIA1 and its target genes in muscle and myoblast cultures was analyzed by reverse transcriptase polymerase chain reaction. Mutant TIA1 was characterized by cell biological studies on HeLa cells, including quantification of stress granules by high content analysis and fluorescence recovery after photobleaching (FRAP) experiments.ResultsThe linked haplotype at 2p13 was narrowed down to <806 kb. Sequencing by multiple methods revealed only 1 segregating coding mutation, c.1362 G>A (p.E384K) in the RNA‐binding protein TIA1, a key component of stress granules. Immunofluorescence microscopy of WDM biopsies showed a focal increase of TIA1 in atrophic and vacuolated fibers. In HeLa cells, mutant TIA1 constructs caused a mild increase in stress granule abundance compared to wild type, and showed slower average fluorescence recovery in FRAP.InterpretationWDM is caused by mutated TIA1 through a dominant pathomechanism probably involving altered stress granule dynamics. Ann Neurol 2013;73:500–509
Bioactive polyacrylamide hydrogels with gradients in mechanical stiffness
Authors: Diederich Vincent E.G. , Studer Peter , Kern Anita , Lattuada Marco , Storti Giuseppe , Sharma Ram I. , Snedeker Jess G. , Morbidelli Massimo 
Published: December 2012

AbstractWe propose a novel, single step method for the production of polyacrylamide hydrogels with a gradient in mechanical properties. In contrast to already existing techniques such as UV photo‐polymerization with photomasks (limited penetration depth) or microfluidic gradient mixers (complex microfluidic chip), this technique is not suffering such limitations. Young's modulus of the hydrogels was varied by changing the total monomer concentration of the hydrogel precursor solution. Using programmable syringe pumps, the total monomer concentration in the solution fed to the hydrogel mold was varied from 16 wt% down to 5 wt% over the feeding time to obtain a gradient in compliance ranging from 150 kPa down to 20 kPa over a length of 10 mm down to 2.5 mm. Polymerization was achieved with the dual initiation system composed of ammonium persulfate and N,N,N′,N′‐tetramethylethylenediamine, which were both fed through separate capillaries to avoid premature polymerization. Functionalized with the model ligand collagen I, the substrates were bioactive and supported the attachment of human foreskin fibroblasts (around 30% of the cells seeded attached after 1 h). A kinetic morphology study on homogeneous hydrogels of different stiffness's indicated that fibroblasts tend to spread to their final size within 2 h on stiff substrates, while the spreading time was much longer (ca. 4–5 h) on soft substrates. These trends were confirmed on hydrogels with compliance gradients, showing well spread fibroblasts on the stiff end of the hydrogel after 2 h, while the cells on the soft end still had small area and rounded morphology. Biotechnol. Bioeng. 2013; 110: 1508–1519. © 2012 Wiley Periodicals, Inc.
Building user experiences: Synchronizing user experience design and the supporting metadata and taxonomy infrastructure
Authors: Hert Carol A. , Carlson Gary , Wessel Bram 
Published: December 2012

AbstractEditor's SummaryFor best results in website architecture and operation, the process of user experience design and taxonomy and metadata development should be synchronized, not developed in isolation. Bringing the two work streams together enables full consideration of how users, represented as personas, would interact with the site, pursuing likely needs and preferences. The persona review informs the technical infrastructure and functionality as well as the terminology and content types. Analysis of the site design and comparison with similar sites can lead to better appreciation of the user experience and expanded vocabulary links to improve access to content. The Key Paths methodology used by the design firm Factor captures likely user journeys to define design elements, allowing for multiple routes to appropriate content. Metadata must be available to support design, and functional design and content tagging must take advantage of metadata. The dynamic interaction and mutual support of the site's content team and design team are keys to an effective product.
The Enantiomeric Separation of Tetrahydrobenzimidazoles Cyclodextrins‐ and Cyclofructans
Authors: Perera Sirantha , Na Yun‐Cheol , Doundoulakis Thomas , Ngo Victor J. , Feng Qing , Breitbach Zachary S. , Lovely Carl J. , Armstrong Daniel W. 
Published: December 2012

ABSTRACTHigh performance liquid chromatography (HPLC) and capillary electrophoresis (CE) were used to examine the enantiomeric separation of a series of 17 racemic tetrahydrobenzimidazole analytes. These compounds were prepared as part of a synthetic program directed towards a select group of pyrrole‐imidazole alkaloids. This group of natural products has a unique framework of pyrrole‐ and guanidine‐containing fused rings which can be constructed through the intermediacy of a tetrahydrobenzimidazole scaffold. Several bonded cyclodextrin‐ (both native and derivatized) and derivatized cyclofructan‐based chiral stationary phases were evaluated for their ability to separate these racemates via HPLC. Similarly, several cyclodextrin derivatives and derivatized cyclofructan were evaluated for their ability to separate this set of chiral compounds via CE. Enantiomeric selectivity was observed for the entire set of racemic compounds using HPLC with resolution values up to 3.0. Among the 12 different CSPs, enantiomeric recognition was most frequently observed with the Cyclobond RN and LARIHC CF6‐P, while the Cyclobond DMP yielded the greatest number of baseline separations. Fifteen of the analytes showed enantiomeric recognition in CE with resolution values as high as 5.0 and hydroxypropyl‐γ‐cyclodextrin was the most effective chiral additive. Chirality 25:133–140, 2013. © 2012 Wiley Periodicals, Inc.
Investigation of Peptoid Chiral Stationary Phases Terminated withN′‐Substituted Phenyl‐L‐proline/leucine Amide
Authors: Wu Haibo , Song Guangjun , Liang Xinmiao , Ke Yanxiong 
Published: December 2012

AbstractEight peptoid chiral stationary phases (CSPs) terminated withN′‐substituted phenyl‐L‐proline orL‐leucine amide were prepared and evaluated under normal phase mode. With 59 racemic analytes, we compared the enantiomeric separations on CSPs terminated withp‐methylphenyl,p‐chlorophenyl and unsubstituted phenyl. For short peptoid selectors containing only oneS‐N‐(1‐phenylethyl) glycine (Nspe) unit, the terminalp‐methyl substituent did not affect chiral recognition abilities significantly. InL‐proline amide terminated CSPs,p‐chloro substituent resulted in obviously inferior selectivity while inL‐leucine amide terminated CSPs, it worked much better. Longer peptoid selectors containing two moreNspe units generally performed much better than the shorter ones, due to the great contributions of peptoid chain to chiral recognition. Meanwhile, the effects of the terminal substituent on selectivity were found changed on these CSPs. For CSPs terminated withL‐leucine amide, the terminalp‐chloro substituent in longer selector no longer produced the best recognition ability; the CSP with unsubstituted phenyl instead performed best. Comparison of these peptoid CSPs varied in terminal substituents and chain length was conducted to gain a better understanding of the chiral recognition mechanism of this type CSP and promote the development of more useful CSPs.
Synthesis of 1,3,5‐Trisubstituted [4‐tert‐Butyl 2‐(5,5‐difluoro‐2,2‐dimethyl‐6‐vinyl‐1,3‐dioxan‐4‐yl)acetate]pyrazoles via a Pd‐Catalyzed CH Activation
Authors: Wang Xiaoguang , Fang Xiang , Yang Xueyan , Ni Meng , Wu Fanhong 
Published: December 2012

AbstractThe gem‐difluoromethylenated acetonide 2 was efficiently synthesized as new precursor of HMG‐CoA reductase inhibitor. Straightforward olefination via Pd‐catalyzed C4‐H activation of 1,3,5‐trisubstituted pyrazoles 1 was proceeded smoothly in the presence of Pd(OAc)2 and AgCO3. This protocol has merits in terms of the improved atomic economy and prevention from the generation of by‐products.
Glucagon‐like peptide‐1 in the rat brain: Distribution of expression and functional implication
Authors: Gu Guibao , Roland Barbara , Tomaselli Kevin , Dolman Carrie S. , Lowe Carolyn , Heilig Joseph S. 
Published: December 2012

AbstractGlucagon‐like‐peptide 1 (GLP‐1) is expressed not only in gut endocrine cells, but also in cells in the caudal brainstem and taste buds. To better understand the functions of central GLP‐1, GLP‐1 expression was immunohistochemically profiled in normal rat brain and its distribution correlated with FOS induction following systemic administration of a GLP‐1 receptor agonist, exendin‐4. In the present study, only a small number of GLP‐1‐immunoreactive cell bodies were observed in the nucleus of the solitary tract (NTS). However, these neurons send abundant projections to other regions of the brain, in particular the forebrain, including the paraventricular and dorsomedial nuclei of the hypothalamus, the central nucleus of the amygdala, the oval nucleus of the bed nuclei of the stria terminalis, and the paraventricular nucleus of the thalamus. Intraperitoneal administration of exendin‐4 resulted in extensive FOS expression in areas of the forebrain and the hindbrain. In the forebrain, FOS expression was largely confined to regions where a high density of GLP‐1‐immunoreactive terminals was also localized. The majority of GLP‐1‐immunoreactive cells in the NTS were not FOS‐positive. FOS‐positive cells appeared to represent a different population from those expressing GLP‐1. Thus, GLP‐1‐containing neurons in the brainstem may not be involved in receiving and relaying to other regions of the brain the physiological signals of prandial GLP‐1 secreted by intestinal L‐cells. Projections of GLP‐1‐containing neurons to the distinctive structures in the forebrain imply that central GLP‐1 may play an important role in the behavioral and metabolic integration of autonomic control and arousal in the rat. J. Comp. Neurol. 521:2235–2261, 2013. © 2012 Wiley Periodicals, Inc.
Neurogenesis is required for behavioral recovery after injury in the visual system of Xenopus laevis
Authors: McKeown Caroline R. , Sharma Pranav , Sharipov Heidi E. , Shen Wanhua , Cline Hollis T. 
Published: December 2012

AbstractNonmammalian vertebrates have a remarkable capacity to regenerate brain tissue in response to central nervous system (CNS) injury. Nevertheless, it is not clear whether animals recover lost function after injury or whether injury‐induced cell proliferation mediates recovery. We address these questions using the visual system and visually‐guided behavior in Xenopus laevis tadpoles. We established a reproducible means to produce a unilateral focal injury to optic tectal neurons without damaging retinotectal axons. We then assayed a tectally‐mediated visual avoidance behavior to evaluate behavioral impairment and recovery. Focal ablation of part of the optic tectum prevents the visual avoidance response to moving stimuli. Animals recover the behavior over the week following injury. Injury induces a burst of proliferation of tectal progenitor cells based on phospho‐histone H3 immunolabeling and experiments showing that Musashi‐immunoreactive tectal progenitors incorporate the thymidine analog chlorodeoxyuridine after injury. Pulse chase experiments indicate that the newly‐generated cells differentiate into N‐β‐tubulin‐immunoreactive neurons. Furthermore, in vivo time‐lapse imaging shows that Sox2‐expressing neural progenitors divide in response to injury and generate neurons with elaborate dendritic arbors. These experiments indicate that new neurons are generated in response to injury. To test if neurogenesis is necessary for recovery from injury, we blocked cell proliferation in vivo and found that recovery of the visual avoidance behavior is inhibited by drugs that block cell proliferation. Moreover, behavioral recovery is facilitated by changes in visual experience that increase tectal progenitor cell proliferation. Our data indicate that neurogenesis in the optic tectum is critical for recovery of visually‐guided behavior after injury. J. Comp. Neurol. 521:2262–2278, 2013. © 2012 Wiley Periodicals, Inc.
Pre‐target axon sorting in the avian auditory brainstem
Authors: Kashima Daniel T. , Rubel Edwin W , Seidl Armin H. 
Published: December 2012

AbstractTopographic organization of neurons is a hallmark of brain structure. The establishment of the connections between topographically organized brain regions has attracted much experimental attention, and it is widely accepted that molecular cues guide outgrowing axons to their targets in order to construct topographic maps. In a number of systems afferent axons are organized topographically along their trajectory as well, and it has been suggested that this pre‐target sorting contributes to map formation. Neurons in auditory regions of the brain are arranged according to their best frequency (BF), the sound frequency they respond to optimally. This BF changes predictably with position along the so‐called tonotopic axis. In the avian auditory brainstem, the tonotopic organization of the second‐ and third‐order auditory neurons in nucleus magnocellularis (NM) and nucleus laminaris (NL) has been well described. In this study we examine whether the decussating NM axons forming the crossed dorsal cochlear tract (XDCT) and innervating the contralateral NL are arranged in a systematic manner. We electroporated dye into cells in different frequency regions of NM to anterogradely label their axons in XDCT. The placement of dye in NM was compared to the location of labeled axons in XDCT. Our results show that NM axons in XDCT are organized in a precise tonotopic manner along the rostrocaudal axis, spanning the entire rostrocaudal extent of both the origin and target nuclei. We propose that in the avian auditory brainstem, this pretarget axon sorting contributes to tonotopic map formation in NL. J. Comp. Neurol. 521:2310–2320, 2013. © 2012 Wiley Periodicals, Inc.
Corticospinal sprouting occurs selectively following dorsal rhizotomy in the macaque monkey
Authors: Darian‐Smith Corinna , Lilak Alayna , Alarcón Christina 
Published: December 2012

AbstractThe corticospinal tract in the macaque and human forms the major descending pathway involved in volitional hand movements. Following a unilateral cervical dorsal root lesion, by which sensory input to the first three digits (D1–D3) is removed, monkeys are initially unable to perform a grasp retrieval task requiring sensory feedback. Over several months, however, they recover much of this capability. Past studies in our laboratory have identified a number of changes in the afferent circuitry that occur as function returns, but do changes to the efferent pathways also contribute to compensatory recovery? In this study we examined the role of the corticospinal tract in pathway reorganization following a unilateral cervical dorsal rhizotomy. Several months after animals received a lesion, the corticospinal pathways originating in the primary somatosensory and motor cortex were labeled, and terminal distribution patterns on the two sides of the cervical cord were compared. Tracers were injected only into the region of D1–D3 representation (identified electrophysiologically). We observed a strikingly different terminal labeling pattern post lesion for projections originating in the somatosensory versus motor cortex. The terminal territory from the somatosensory cortex was significantly smaller compared with the contralateral side (area mean = 0.30 vs. 0.55 mm2), indicating retraction or atrophy of terminals. In contrast, the terminal territory from the motor cortex did not shrink, and in three of four animals, aberrant terminal label was observed in the dorsal horn ipsilateral to the lesion, indicating sprouting. These differences suggest that cortical regions play a different role in post‐injury recovery. J. Comp. Neurol. 521:2359–2372, 2013. © 2012 Wiley Periodicals, Inc.
Parallel relay‐assisted three‐phase MIMO space division multiple access transmission for multi‐hop throughput improvement
Authors: Zhao Pengkai 
Published: December 2012

SUMMARYMulti‐hop communications equipped with parallel relay nodes is an emerging network scenario visible in environments with high node density. Conventional interference‐free medium access control (MAC) has little capability in utilizing such parallel relays because it essentially prohibits the existence of co‐channel interference and limits the feasibility of concurrent communications. This paper aims at presenting a cooperative multi‐input multi‐output (MIMO) space division multiple access (SDMA) design that uses each hop's parallel relay nodes to improve multi‐hop throughput performance. Specifically, we use MIMO and SDMA to enable concurrent transmissions (from multiple Tx nodes to single/multiple Rx nodes) and suppress simultaneous links' co‐channel interference. As a joint physical layer (MAC/PHY) solution, our design has multiple MAC modules including load balancing that uniformly splits traffic packets at parallel relay nodes and multi‐hop scheduling taking co‐channel interference into consideration. Meanwhile, our PHY layer modules include distributive channel sounding that exchanges channel information in a decentralized manner and link adaptation module estimating instantaneous link rate per time frame. Simulation results validate that compared with interference‐free MAC or existing Mitigating Interference using Multiple Antennas (MIMA‐MAC), our proposed design can improve end‐to‐end throughput by around 30% to 50%. In addition, we further discuss its application on extended multi‐hop topology. Copyright © 2012 John Wiley & Sons, Ltd.