bluuebunny/crossref_metadata_2025_split huggingface dataset:
Copper‐Catalyzed Cascade Reactions of Substituted 4‐Iodopyrazolecarbaldehydes with 1,2‐Phenylenediamines and 2‐Aminophenols
Authors: Nayak Maloy , Batra Sanjay 
Published: December 2010

AbstractA new approach for the synthesis of novel annulated‐pyrazoles is presented. This protocol includes an intermolecular condensation followed by a copper‐mediated intramolecular CN or CO coupling reaction. The method is applied to a range of substituted 4‐iodopyrazolecarbaldehydes which react with 1,2‐phenylenediamines or 2‐aminophenols to yield substituted 2,4‐ or 1,4‐dihydrobenzo[b]pyrazolo[4,3‐e][1,4]diazepines or substituted‐2H‐ or 1H‐benzo[b]pyrazolo[3,4‐f][1,4]oxazepines, respectively.
A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis
Authors: Sohn Young Bae , Kim Su Jin , Park Sung Won , Park Hyung‐Doo , Ki Chang‐Seok , Kim Chi Hwa , Huh Seung Won , Yeau Sunghee , Paik Kyung‐Hoon , Jin Dong‐Kyu 
Published: December 2010

AbstractMucopolysaccharidosis type II (Hunter syndrome) is a lysosomal storage disease caused by a deficiency of iduronate‐2‐sulfatase. Most reported patients are males because of X‐linked recessive inheritance pattern. Only a few female patients with Hunter syndrome have been reported, and there is no prior report of offspring from a patient with Hunter syndrome. In this report, we describe a woman with mild manifestations of Hunter syndrome who gave birth to a daughter. Both the mother and daughter carried the p.R443X mutation in exon 9 of the ID2S gene. Iduronate‐2‐sulfatase activity in the mother was as low as that found in male Hunter syndrome patients, but it was in the low‐normal range in her daughter. Unlike her mother, the daughter did not show any physical signs of Hunter syndrome, and urinary excretion of glycosaminoglycan was within normal range. However, she had severe pulmonary vein stenosis with pulmonary hypertension and a large atrial septal defect and died at 11 months of age. © 2010 Wiley‐Liss, Inc.
Further delineation of the Van den Ende–Gupta syndrome
Authors: Ali Rehab , Almureikhi Mariam , Al‐Musaifri Fatima , Bhat Venkatraman , Teebi Ahmad , Ben‐Omran Tawfeg 
Published: December 2010

AbstractVan Den Ende–Gupta syndrome (VDEGS) is an infrequently described disorder characterized by arachnodactyly, camptodactyly, blepharophimosis, malar hypoplasia, narrow nasal bridge, convex nasal ridge, and everted lower lip. Patients show normal growth and cognition. We report on three male and three female cases from four consanguineous families, of which three belong to the same highly inbred tribe from Qatar. The phenotype in the patients is remarkably homogeneous. VDEGS has been suggested both to follow an autosomal recessive and autosomal dominant pattern of inheritance, but our observations suggest an autosomal recessive pattern of inheritance, although genetic heterogeneity cannot be excluded. © 2010 Wiley‐Liss, Inc.
Recurrent interstitial 1p36 deletions: Evidence for germline mosaicism and complex rearrangement breakpoints
Authors: Gajecka Marzena , Saitta Sulagna C. , Gentles Andrew J. , Campbell Lindsey , Ciprero Karen , Geiger Elizabeth , Catherwood Anne , Rosenfeld Jill A. , Shaikh Tamim , Shaffer Lisa G. 
Published: December 2010

AbstractDeletions of chromosome 1p36 are one of the most frequently encountered subtelomeric alterations. Clinical features of monosomy 1p36 include neurocognitive impairment, hearing loss, seizures, cardiac defects, and characteristic facial features. The majority of cases have occurred sporadically, implying that genomic instability plays a role in the prevalence of the syndrome. Here, we report two siblings with mild phenotypic features of the deletion syndrome, including developmental delay, hearing loss, and left ventricular non‐compaction (LVNC). Microarray analysis using bacterial artificial chromosome and oligonucleotide microarrays indicated the deletions were identical, suggesting germline mosaicism. Parental phenotypes were normal, and analysis by fluorescence in situ hybridization (FISH) did not show mosaicism. These small interstitial deletions were not detectable by conventional subtelomeric FISH analysis. To investigate the mechanism of deletion further, the breakpoints were cloned and sequenced, demonstrating the presence of a complex rearrangement. Sequence analysis of genes in the deletion interval did not reveal any mutations on the intact homologue that may have contributed to the LVNC seen in both children. This is the first report of apparent germline mosaicism for this disorder. Thus, our findings have important implications for diagnostic approaches and for recurrence risk counseling in families with a child with monosomy 1p36. In addition, our results further refine the minimal critical region for LVNC and hearing loss. © 2010 Wiley‐Liss, Inc.
Further evidence for the pathogenicity of 15q24 microduplications distal to the minimal critical regions
Authors: Roetzer Katharina M. , Schwarzbraun Thomas , Obenauf Anna C. , Hauser Erwin , Speicher Michael R. 
Published: December 2010

AbstractDNA copy number alterations in 15q24 have repeatedly been reported in patients exhibiting mild to moderate developmental delay and dysmorphic features. To date, mainly microdeletions have been described, and comparison of overlapping regions allowed the definition of minimal critical regions (MCRs) for microdeletions as well as microduplications. These MCRs are associated with distinct phenotypes. Recently, a family with a new microduplication distal to these MCRs was reported. However, for this alteration the typical phenotypical consequences could not yet be determined. Here we present another family with a nearly identical microduplication exhibiting a broad clinical spectrum including developmental delay, autistic traits and dysmorphic features. Our data suggest that microduplications adjacent and distal to the known MCRs are variable in expressivity and are associated with distinct features. They might represent a novel and recurrent microduplication syndrome. © 2010 Wiley‐Liss, Inc.
Phase stability and melting behavior of the α and γ phases of nylon 6
Authors: Zhang Yanzhu , Zhang Yi , Liu Siwei , Huang Aiping , Chi Zhenguo , Xu Jiarui , Economy James 
Published: December 2010

AbstractThe phase stability and melting behavior of nylon 6 were studied by high‐temperature wide‐angle X‐ray diffraction and differential scanning calorimetry (DSC). The results show that most of the α phase obtained by a solution‐precipitation process [nylon 6 powder (Sol‐Ny6)] was thermodynamically stable and mainly melted at 221°C; the double melting peaks were related to the melt of α crystals with different degrees of perfection. The γ phase formed by liquid nitrogen quenching (sample LN‐Ny6) melted within the range 193–225°C. The amorphous phase converted into the γ phase below 180°C but into the high‐temperature α phase at 180–200°C. Both were stable over 220°C. α‐ and γ*‐crystalline structures were formed by annealing but were not so stable upon heating. Typical double melting peaks were shown on the DSC curve; melt recrystallization happened within the range 100–200°C. The peak at 210°C was mainly due to the melting of the less perfect crystalline structure of the γ phase and a fraction of the α phase; the one at 219°C was due to the high‐temperature α‐ and γ‐phase crystals. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
The failure behavior of a polyurethane composite coating in 3.5% NaCl solution under ultraviolet irradiation
Authors: He Shaoping , Xiong Jinping , Tang Yuming , Zuo Yu 
Published: December 2010

AbstractThe failure process of inorganic zinc‐rich/micaceous iron oxide epoxy/aliphatic polyurethane composite coating in 3.5% NaCl solution under ultraviolet irradiation (UV) was studied with electrochemical impedance spectroscopy (EIS) and Fourier transform infrared (FTIR) spectroscopy. UV irradiation significantly accelerated failure process of the composite coating in NaCl solution. The effect of UV on failure process of the coating system in 3.5% NaCl solution may be divided into two stages: in the early stage, the thermal effect generated by the ultraviolet irradiation is the main reason leading to the increase in coating porosity, but this effect is not serious and the coating remains high impedance and good protection ability. In the latter stage, the fracture of polymer chains in the top coating by UV irradiation is the main factor resulting in quick decrease of coating performance. CN and CO bonds in polyurethane coating are broken by UV irradiation, leading to quick increase of the coating porosity and decrease of the coating resistance. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
The Neuroprotective Effects of Reg‐2 Following Spinal Cord Transection Injury
Authors: Fang Marong , Wang Jing , Huang Jian‐Ying , Ling Shu‐Cai , Rudd john A. , Hu Zhi‐Ying , Yew David T. , Han Shu 
Published: December 2010

AbstractThis study was designed to elucidate the potential neuroprotective effects of Reg‐2 (regeneration gene protein 2) in a rodent model of spinal cord transection injury at the ninth thoracic level. Reg‐2 at 100 and 500 μg, recombinant rat ciliary neurotrophic factor, or vehicle were delivered intrathecally using Alzet miniosmotic pumps. We found that Reg‐2 treatment significantly reduced neuronal death in the spinal cord. There was also an attenuation of inflammation at the injury site and an increase in white matter sparing and retained myelination. Retrograde tracing revealed that Reg‐2 protected axons of long descending pathways at 6 weeks post‐SCI, and the number of FluoroGold‐labeled neurons in spinal and supraspinal regions was also significantly increased. Immunofluorescent staining confirmed that the spared white matter contained neurofilament‐positive axons. Moreover, behavioral improvements were revealed by Basso Beattie Bresnahan locomotor rating scores and grid‐walk analysis. These results suggest that Reg‐2 might promote functional recovery by increasing axonal growth, inhibiting neuronal apoptosis, and attenuating spinal cord secondary injury after SCI. Anat Rec, 2010. © 2010 Wiley‐Liss, Inc.
Cochlear Labyrinth Volume in Euarchontoglirans: Implications for the Evolution of Hearing in Primates
Authors: Armstrong Stephanie D. , Bloch Jonathan I. , Houde Peter , Silcox Mary T. 
Published: December 2010

AbstractUsing high resolution X‐ray computed tomography data we examined the relationship between cochlear labyrinth volume and body mass in extant, non‐primate euarchontoglirans, and in two fossils, to allow for comparison with the results of Kirk and Gosselin‐Ildari (2009). Modern primates have significantly higher cochlear labyrinth volumes relative to body mass than other euarchontoglirans, which may be related to a downward shift in the highest and lowest audible frequencies over the course of primate evolution, and to the relative increase in brain size observed in Euprimates. Anat Rec, 2011. © 2010 Wiley‐Liss, Inc.
Geometric Morphometric Analysis of Tibial Shape and Presentation Among Catarrhine Taxa
Authors: Turley Kevin , Guthrie Emily H. , Frost Stephen R. 
Published: December 2010

AbstractThe proximal component of the talo‐crural joint, the tibia, was compared, using geometric morphometrics, in 240 specimens from 10 extant taxa to identify differences in shape and the factors influencing them. The specimens were laser scanned, digitally reconstructed, and landmarked. Regression analysis was used to evaluate tibial shape, and significant amounts of shape variation among taxa were due to body mass, tibial size, superfamily, and substrate preference in the whole tibia, as well as, separate analysis of the distal tibial articular facets, and the medial malleolar facet. The most important factor for whole tibial shape was tibial robusticity, which closely correlated with body mass. However, substrate preference was also a significant factor in tibial shape and independent from body mass. Substrate preference was also the most important factor defining distal articular morphology. Principal components analysis and pairwise permutation tests were used to compare differences in morphology among taxa. Nearly all were significantly different in overall tibial shape, and distal morphology. Shape and presentational morphology associated with body mass, tibial size, superfamily, and substrate preference were identified, along with the similarities and differences among individual taxa. These were visualized by TPS deformation of an exemplar surface. Relationships among these factors were assessed with their dot‐product. Results demonstrated that size significantly influenced proximal presentation, while substrate preference influenced articular morphology. Anat Rec, 2011. © 2010 Wiley‐Liss, Inc.
The Sealed Osteons of Cortical Diaphyseal Bone. Early Observations Revisited With Scanning Electron Microscopy
Authors: Congiu Terenzio , Pazzaglia Ugo E. 
Published: December 2010

AbstractThe frequency, structure, mode of formation and significance of sealed osteons remain unsettled. Sealed osteons have been reported as an unusual finding in the cortical bone of experimental animals: we extended the observation to human cortical bone studied with SEM. Tibial bone specimens from three patients who sustained a traumatic below‐the‐knee amputation were used in the study. The observed total mean density of osteons was 19.25/mm2 and the percentage of sealed and partially sealed osteons was 4.2% and 1.7% respectively. The material sealing the central canal showed an X‐ray microanalysis spectrum with the same Ca/P ratio as the peripheral lamellae and a lower carbon signal. The morphology suggested a reactivation of bone apposition triggered by exclusion of the occluded canal from blood flow rather than a physiological evolution of the closing process of secondary osteons. This presupposes collapse and degeneration of the central vessel before the osteoblasts resting on the inner surface of the canal could start to lay down new bone matrix. This explanation is consistent with a dynamic model of intracortical blood flow. Anat Rec, 2011. © 2010 Wiley‐Liss, Inc.
Robust reliable tracking controller design against actuator faults for LPV systems
Authors: Song Lei , Yang Jianying 
Published: December 2010

AbstractA robust reliable tracking controller design method is developed against actuator faults for linear parameter varying (LPV) systems under a passive control framework. This method is based on a newly proposed stability condition for LPV systems, which is a more general condition than the existing results. An important contribution of this method is that it could handle relatively wider range of actuator faults due to the extra freedom degree introduced by a new slack variable in the stability condition. Numerical example shows the effectiveness and superiority of our method.Copyright © 2010 John Wiley and Sons Asia Pte Ltd and Chinese Automatic Control Society
Lack of association between markers in the ITGA3, ITGAV, ITGA6 and ITGB3 and autism in an Irish sample
Authors: Cochrane Lynne E. , Tansey Katherine E. , Gill Michael , Gallagher Louise , Anney Richard J.L. 
Published: December 2010

AbstractAutism is a neurodevelopmental disorder characterized by impairments in three core areas—language, social interaction and restricted/repetitive behaviours. It is generally accepted that genetics plays a large role in the aetiology of autism, but the exact mechanism is still unknown. We recently published evidence of an association between autism and the ITGA4 gene [Conroy et al., 2008]. Two genomic regions have shown evidence of linkage to autism in multiple studies— 2q31‐q33 and 17q21‐q22. Both of these regions harbour multiple integrin subunit genes. We tested markers in ITGA3, ITGA6, ITGAV and ITGB3 for association with autism in the Irish autism sample. No markers in ITGA3, ITGA6, ITGAV and ITGB3 were found to be associated with autism. Three 3‐marker haplotypes in ITGAV, ITGA3 and ITGA6 were found to be nominally associated (0.01<P<0.05) and to have unremarkable findings. Our data indicates that in the Irish autism sample the integrin genes tested here do not play an important role in the aetiology of autism.
Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions
Authors: Sakurai Takeshi , Dorr Nathan P. , Takahashi Nagahide , McInnes L. Alison , Elder Gregory A. , Buxbaum Joseph D. 
Published: December 2010

AbstractIdentifying genes involved in social behavior is important for autism research. Williams–Beuren syndrome (WBS) is a developmental syndrome with unique neurocognitive features, including low IQ, deficits in visuospatial and visual‐motor abilities, hypersensitivity to sounds, hypersociability, and increased general anxiety. The syndrome is caused by a recurrent hemizygous deletion of the 7q11.23 region, containing about 28 genes. One of genes in the region, GTF2I, has been implicated in the hypersociability and visuospatial deficits of WBS based on genotype–phenotype correlation studies of patients with atypical deletions. In order to clarify the involvement of GTF2I in neurocognitive function, especially social behavior, we have developed and characterized Gtf2i‐deficient mice. We found that homozygous deletion of Gtf2i causes lethality during embryonic development with neural tube closure defects and exencephaly, consistent with other reports. Gtf2i heterozygous animals show no gross changes in brain structure or development. Furthermore, heterozygous animals show no alterations in learning and memory, including spatial memory as assessed by the Morris water maze, but show alterations in the recognition of novel objects. Interestingly, they show increased social interaction with unfamiliar mice and do not show typical social habituation processes, reminiscent of the hypersociability observed in WBS patients. The mice do not appear to show increased anxiety, supporting a specific effect of Gtf2i on defined domains of the WBS phenotype. These data indicate that Gtf2i is involved in several aspects of embryonic development and the development of social neurocircuitry and that GTF2I haploinsufficiency could be a contributor to the hypersociability in WBS patients.
The autism risk genes MET and PLAUR differentially impact cortical development
Authors: Eagleson Kathie L. , Campbell Daniel B. , Thompson Barbara L. , Bergman Mica Y. , Levitt Pat 
Published: December 2010

AbstractCandidate risk genes for autism spectrum disorder (ASD) have been identified, but the challenge of determining their contribution to pathogenesis remains. We previously identified two ASD risk genes encoding the receptor tyrosine kinase MET and the urokinase plasminogen activator receptor (PLAUR), which is thought to modulate availability of the MET ligand. We also reported a role for Met signaling in cortical interneuron development in vitro and a reduction of these neurons in uPAR (mouse ortholog of PLAUR) null mice, suggesting that disruption of either gene impacts cortical development similarly. Here, we modify this conclusion, reporting that interneuron numbers are unchanged in the neocortex of Metfx/fx/ Dlx5/6cre mice, in which Met is ablated from cells arising from the ventral telencephalon (VTel). Consistent with this, Met transcript is not detected in the VTel during interneuron genesis and migration; furthermore, during the postnatal period of interneuron maturation, Met is co‐expressed in glutamatergic projection neurons, but not interneurons. Low levels of Met protein are expressed in the VTel at E12.5 and E14.5, likely reflecting the arrival of Met containing corticofugal axons. Met expression, however, is induced in E12.5 VTel cells after 2 days in vitro, perhaps underlying discrepancies between observations in vitro and in Metfx/fx/ Dlx5/6cre mice. We suggest that, in vivo, Met impacts the development of cortical projection neurons, whereas uPAR influences interneuron maturation. An altered balance between excitation and inhibition has been postulated as a biological mechanism for ASD; this imbalance could arise from different risk genes differentially affecting either or both elements.
Highly Strained 2,3‐Bridged 2H‐Azirines at the Borderline of Closed‐Shell Molecules
Authors: Banert Klaus , Meier Barbara , Penk Enrico , Saha Biswajit , Würthwein Ernst‐Ulrich , Grimme Stefan , Rüffer Tobias , Schaarschmidt Dieter , Lang Heinrich 
Published: December 2010

AbstractSubstituted 1‐azidocyclopentenes and 1‐azidocyclohexenes were photolyzed to generate 2,3‐bridged 2H‐azirines. In the case of bridgehead azirines with a six‐membered carbocycle, detection by NMR spectroscopic analysis was possible, whereas even kinetically stabilized bridgehead azirines with a five‐membered ring could not be characterized by low‐temperature NMR spectroscopic analysis. Thus, a recent report on the latter heterocycles was corrected. Depending on the substitution pattern, irradiation of 1‐azidocyclopentenes either led to products that can be explained on the basis of short‐lived 2,3‐bridged 2H‐azirines, or gave secondary products generated from triplet nitrenes. The diverse photoreactivity of 2,3‐bridged 2H‐azirines was also studied by quantum chemical methods (DFT, CCSD(T), CASSCF(6,6)) with respect to the singlet and triplet energy surfaces. The ring‐opening processes leading to the corresponding vinyl nitrenes were identified as key steps for the observed reactivity.
The Growth Process
Authors: Tanner James M. 
Published: December 2010

AbstractThe sections in this article are:Cells and the Growth of Tissues and OrgansStem Cells and Progenitor CellsRegenerating and Nonregenerating TissuesControl of Organ SizeThe Dynamic State of the Body ConstituentsCell Growth and Organ GrowthThe Nervous SystemMuscleAdipose TissueThe SkeletonPrenatal GrowthThe Auxology of the EmbryoGrowth of the FetusPostnatal GrowthThe Human Growth CurveRegulation of Growth: Canalization and Catch‐UpGrowth from Birth to 2 YearsMathematical Modeling of the Postnatal Growth CurveStructural Average, Mean‐Constant CurvesThe Concept of Maturational or Development AgeTypes of Growth Data: Longitudinal and Cross‐SectionalGrowth of Different Tissues and Parts of the BodyEvolution of the Human Growth CurveENVOI: A Glance Toward the History of Auxology
Growth Hormone‐Releasing Peptides
Authors: Bowers Cyril Y. 
Published: December 2010

AbstractThe sections in this article are:ChemistryPeptidesPeptides and Partial PeptidesNonpeptidesBiological ActionsIn VitroIn VivoMechanism of ActionReceptorPostreceptorPharmacokinetics and PharmacodynamicsClinical Effects: 1989–1998SynergismPulsatile Secretion, Desensitization, and UpregulationFuture Prospects
The Regulation of Amino Acid and Protein Metabolism by Growth Hormone
Authors: Fryburg David A. , Barrett Eugene J. 
Published: December 2010

AbstractThe sections in this article are:In Vitro Actions of Growth Hormone and Insulin‐Like Growth Factor I on Protein MetabolismEffects of Growth Hormone In VitroEffects of Insulin‐Like Growth Factor I In VitroIn Vitro Actions of Growth Hormone and Insulin‐Like Growth Factor I on Protein DegradationIn vivo Actions of Growth Hormone and Insulin‐Like Growth Factor I on Protein MetabolismEffects of Growth Hormone In VivoEffects of Insulin‐Like Growth Factor I In VivoComparison of the Actions of Growth Hormone, Insulin‐Like Growth Factor I, and Insulin on Protein Metabolism in vivoInteractions of Growth Hormone with Gonadal SteroidsGrowth Hormone and Insulin‐Like Growth Factor I as Therapy in Catabolic StatesSummary