bluuebunny/crossref_metadata_2025_split huggingface dataset:
Anomalous phenomena in Schumann resonance band observed in China before the 2011 magnitude 9.0 Tohoku‐Oki earthquake in Japan
Authors: Zhou Hongjuan , Zhou Zhiquan , Qiao Xiaolin , Yu Haiyan 
Published: November 2013

AbstractThe anomalous phenomena in the Schumann resonance (SR) band, possibly associated with the Tohoku‐Oki earthquake (EQ), are studied based on the ELF observations at two stations in China. The anomaly appeared on 8 March, 3 days prior to the main shock, and was characterized by an increase in the intensity at frequencies from the first mode to the fourth mode in both magnetic field components, different from the observations in Japan before large EQs in Taiwan. The abnormal behaviors of the north‐south and east‐west magnetic field components primarily appeared at 0000–0900 UT and 0200–0900 UT on 8 March, respectively. The finite difference time domain numerical method is applied to model the impact of seismic process on the ELF radio propagation. A partially uniform knee model of the vertical conductivity profile suggested by V. C. Mushtak is used to model the day‐night asymmetric Earth‐ionosphere cavity, and a locally EQ‐induced disturbance model of the atmospheric conductivity is introduced. The atmospheric conductivity is assumed to increase around the epicenter according to the localized enhancement of total electron content in the ionosphere. It is concluded that the SR anomalous phenomena before the Tohoku‐Oki EQ have much to do with the excited sources located at South America and Asia and also with the localized distribution of the disturbed conductivity. This work is a further confirmation of the relationship of SR anomalies with large EQs and has further concluded that the distortions in the SR band before large EQs may be caused by the irregularities located over the shock epicenter in the Earth‐ionosphere cavity by numerical method.
Fundamentals of Water Relations and Thermoregulation in Animals
Authors: Costa Daniel P , Houser Dorian S , Crocker Daniel E 
Published: November 2013

AbstractAnimals must maintain their internal environment relatively constant with respect to water, electrolytes and temperature. The process by which they regulate the concentration of their internal water and solute concentrations is called osmoregulation. Osmoregulation is accomplished by physiological, anatomical and behavioural adaptations. These include adaptations that modify the permeability of external surfaces and the development of specialised structures that actively transport solutes and metabolites. Animals face the greatest osmoregulatory challenge in terrestrial environments because concentration gradients there are the greatest. As evaporative cooling is used for thermoregulation in terrestrial environments, animals are often faced with the dilemma of maintaining either water or thermal balance, but not both.Key Concepts:Water and solute balance is maintained by ensuring that the rate of water and solute loss is equivalent to the rate of water and solute coming into the animal.Water and electrolytes can enter or leave the body by exchange across the skin and respiratory surfaces and can be gained through ingestion of food and lost through excretion (faeces or urine).Metabolic processes produce both water and nitrogenous waste products. Nitrogenous wastes are excreted through specialised structures.Desert animals have special adaptations to reduce water loss, which include allowing body temperatures to drift, avoidance of warm temperatures by burrowing or nocturnal behaviour.Aquatic animals primarily excrete their nitrogenous wastes as ammonia, whereas terrestrial animals where water is less available excrete either urea (mammals and amphibians) or uric acid (birds and lizards).Elasmobranchs (sharks and rays) retain urea in their body fluids to maintain a beneficial osmotic gradient. The toxic effects of elevated concentrations of urea are alleviated by the presence of TMAO.Terrestrial animals reduce permeability of their skin by adding layers of lipid, keratin or chitin. Arthropods have the lowest rate of cutaneous water loss.Marine lizards and birds have evolved specialised glands that allow for the excretion of excess salt, whereas mammals have evolved kidneys that can excrete highly concentrated urine.Some animals employ behaviour to find microclimates that allows them to exist within extreme environments, thus allowing them to exist there in the absence of physiological or anatomical adaptations.
Transforming Kinship
Authors: Franklin Sarah 
Published: November 2013

AbstractThe analysis of kinship, a core concept in the social sciences, has continued to evolve in the context of new technologies, alternative parenting strategies and globalisation. A widening array of diverse kinship practices encompasses new meanings of ‘shared substance’ as well as ‘being related’ and having ‘genealogical’ or ‘conjugal’ connections. The introduction of ‘achieved’ (non ‘natural’) parenthood in the 1980s has not, as was predicted by some, either undermined or weakened familial ties or obligations – instead, if anything, it has the reverse effect. Similarly, the increased emphasis on molecular genetic information has not been found to have engendered a more essentialist model of parenthood or kinship. Instead, a pattern of flexible adjustment to both traditional kinship norms (however these may be defined) and the creation of alternative kinship possibilities, including new scientific options for parenthood, have characterised the transformation of kinship in the early twenty‐first century.Key Concepts:New reproductive and genetic technologies have introduced new dimensions to the study of kinship, as well as its practice.In general, western models of kinship have become more diverse and flexible rather than more fixed and determining in the wake of new forms of technological assistance to conception.The increase in biological control of reproduction is inversely related to biological determinism.Kinship has become less defined by ideas of what is natural or biological, at the same time ideas of what is natural or biological have become more diverse and hybrid.New patterns of ‘naturalising’ kin ties, through strategic labour to ‘make’ kin, now comprise a substantial element of both kinship study and practices of ‘kinning’.New practices of ‘achieving’ parenthood have displaced the former reliance upon universal, biogenetic explanations of conception in favour of more deliberately chosen strategies of ‘making’ kindred offspring.The social study of kinship has been revitalised by the emphasis on ‘new kinships’.
Olfaction: Central Processing
Authors: McGann John P 
Published: November 2013

AbstractOlfactory receptor neurons in the nasal epithelium detect a huge variety of airborne chemicals (termed ‘odourants’) and encode information about these stimuli in the form of action potentials. This code is then transmitted to the brain, where spatiotemporal patterns of neural activity represent the identity, concentration and temporal dynamics of the odourants. Neural processing of olfactory information at multiple levels in the brain mediates odour recognition, synthetic olfactory perceptions and provides feedback control to the initial stages of the olfactory pathway. This article presents some of the challenges in olfactory information processing and then reviews our current knowledge of the mechanisms by which the olfactory bulb and olfactory cortex represent odours and analyse olfactory information.Key Concepts:The chemical identity of an odourant is represented by the set of ORNs it stimulates and determines the odour's perceived quality.The concentration of an odourant is represented jointly by the amplitude of the ORN response and the recruitment of ORNs expressing lower affinity receptors; this determines the odour's perceived intensity.Each olfactory bulb glomerulus receives axonal projections from a set of ORNs expressing the same odour receptor.An odour stimulates a subset of ORNs (based on their odour receptor expression) and thus drives activity in a corresponding subset of olfactory bulb glomeruli – this odour‐to‐glomerulus mapping is one of the most accessible codes in the nervous system.Activity in olfactory bulb glomeruli is determined by a complex set of interactions among ORN sensory inputs, interneurons within and between glomeruli and modulatory inputs from other brain regions.The set of mitral cells responding during odour presentation represents the chemical identity of the odour, whereas their firing frequency and timing provides additional information about the odour concentration.Activity in mitral cells is shaped by complex interactions with inhibitory granule cells that interconnect mitral cells receiving disparate sensory input.Neurons in piriform cortex respond to specific combinations of input from mitral cells in the olfactory bulb, thus selectively responding to certain odours or combinations of odours.
Regulation and Function of the MYC Oncogene
Authors: Kalkat Manpreet , Penn Linda Z 
Published: November 2013

Abstract

The
MYC
oncogene has been the subject of intense study for more than 30 years, due to its important role in tumourigenesis. MYC is a nuclear transcription factor that can regulate the expression of a multitude of target genes, and its expression in tumours is often associated with poor prognosis. Although decades of research have provided insights into its molecular function as a transcription factor, the mechanisms by which MYC can induce cellular transformation have remained elusive. In addition to the regulation of genes important for cell cycle progression, metabolism, apoptosis and angiogenesis, MYC has wide‐reaching effects, including the alteration of cellular epigenetics and total
ribonucleic acid (RNA)
content. Recent reports have suggested that post‐translational modification (PTM) of MYC is important for regulating the activity and functions of this potent oncogene; however, surprisingly, little research has been conducted in this area. Herein, the authors summarise recent findings regarding the molecular and biological functions of MYC and their relationship to the PTMs of MYC.

Key Concepts:

The
MYC
oncogene encodes a nuclear basic helix‐loop‐helix transcription factor.

MYC regulates a large number of transcriptional targets and can have wide‐reaching effects on proliferation, the epigenome and total cellular RNA content.

MYC
is essential for cellular proliferation and is a potent oncogene when it is deregulated in cancer.

Deregulated, often elevated, MYC levels have been shown to initiate tumourigenesis in many
in vivo
models.

MYC activity and stability is regulated by post‐translational modifications, including phosphorylation, ubiquitylation and acetylation.
Meckel Syndrome and Related Disorders
Authors: Frank Valeska , Bergmann Carsten 
Published: November 2013

AbstractCilia‐related disorders (ciliopathies) are characterised by great clinical and genetic heterogeneity and overlaps between different disease entities. Meckel syndrome (MKS) is generally allelic to Joubert syndrome and related disorders, and resides at the severe end of the broad phenotypic spectrum of ciliopathies. MKS is a usually autosomal recessive, multisystemic disorder of early developmental rather than degenerative nature. Classic disease manifestations comprise occipital meningoencephalocele, cystic kidneys, hepatobiliary ductal plate malformation and postaxial polydactyly, whereas several other additional features such as heart defects and cleft lip/palate have also been reported. Survival beyond birth or the neonatal period is unusual with the vast majority of cases dying in utero. Until recently and before next‐generation sequencing (NGS) have emerged, molecular genetic testing of MKS and related ciliopathies was considerably hampered by its extensive locus heterogeneity. However, NGS‐based technologies make genetic testing now possible and have revolutionised research and diagnostics. For example, specific disease panels that allow sequencing of all disease genes in parallel significantly improve genetic diagnostics and lead to reduction of turnaround times and costs.Key Concepts:Meckel syndrome (MKS) resides at the severe end of the broad phenotypic spectrum of cilia‐related disorders (ciliopathies).MKS and other ciliopathies are clinically and genetically heterogeneous.MKS is a usually autosomal recessive, early developmental multisystemic disorder.Most patients die in utero, survival beyond birth or the neonatal period is unusual.Classic disease manifestations comprise occipital meningoencephalocele, cystic kidneys, hepatobiliary ductal plate malformation and postaxial polydactyly, but additional features are common.At least 10 genes are known for MKS currently, other ciliary genes are thought to be allelic; that is why more than a dozen genes have to be considered to be disease relevant in patients with MKS.Efficient molecular genetic testing of MKS and related disorders have only become feasible with emerging next‐generation sequencing (NGS)‐based approaches.Specific disease panels (e.g. for MKS and related disorders) allow sequencing of all disease genes in parallel and very efficiently lead to reduction of turnaround times and costs.
Genetics of Keratoconus
Authors: Doss C George Priya , Chaturvedi Richa , Hansoge Lalith N 
Published: November 2013

Abstract

Keratoconus is a mysterious disease of cornea with diverse genetic complexity. Past 160 years of molecular genetics revolution has witnessed the identification of candidate genes with multiple loci through genome‐wide association studies (GWAS). This article provides key insight into the genetics of keratoconus along with diagnosis, treatment and management.

Key Concepts:

Keratoconus is a noninflammatory corneal progressive ectasia that is bilateral and asymmetric, characterised by steepening and deformation of the cornea, thinning of the apical cornea and corneal scarring.

Patients with moderate keratoconus are observed with Fleischer ring around the cone base due to an accumulation of iron deposits. Also Vogt striae, which are fine vertical lines due to compression of Descemet membrane, can be seen.

In keratoconus, the cornea's normal defence system is lost and leads to accumulation of free radicals in the tissue, which can cause structural damage.

Monozygotic twins have higher concordance of keratoconus than dizygotic twins, which is shown by their phenotypic similarity. This type of evaluation can be made in situations where a clinical sign does not show a genetic pattern. As far as the age groups that get afflicted with the disease are concerned, the keratoconus‐affected individuals between 30–40 years of age are higher than the other groups.

Approximately 17 genomic loci have been described from 12 studies based on linkage analysis. This propounds at large the genetic disparities in keratoconus. Further, these studies make possible to consider the mutational effects in different genes that are responsible for the disease.

Visual System Homeobox 1
(
VSX1
) is the most widely reported gene for keratoconus. This gene codes for a transcription factor that helps in ocular development and development of cornea. Mutations in the locus of this gene are reported to be pathogenic and are positive in keratoconus patients.

Early signs for diagnosing include irregularity of reflex observed by retinoscopy, distortion of the corneal reflection observed by keratometry and conical contour revealed by the fit of a corneal lens.

Nowadays, surgical procedures to selectively replace either the anterior or the posterior layer are used. Keratoplasty is employed to remove the damaged cornea. The distorted cornea is replaced entirely or partially by graft. Entire removal of the keratoconic cornea is called penetrating keratoplasty, whereas if a part of the cornea is removed, it is called lamellar keratoplasty.
Palladium‐Catalyzed Carbonylative Synthesis of Phthalimides from 1,2‐Dibromoarenes with Molybdenum Hexacarbonyl as Carbon Monoxide Source
Authors: Wu Xiao‐Feng , Oschatz Stefan , Sharif Muhammad , Flader Anika , Krey Lisa , Beller Matthias , Langer Peter 
Published: November 2013

AbstractWe describe here a convenient and mild, carbon monoxide gas‐free palladium‐catalyzed procedure to obtain N‐substituted phthalimides with molybdenum hexacarbonyl as carbon monoxide precursor. These conditions tolerate a number of functional groups on the benzene ring as well as a number of amines and give the corresponding phthalimides in good to excellent yields.magnified image
A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf–Hirschhorn syndrome
Authors: Terrone Gaetano , Cappuccio Gerarda , Genesio Rita , Esposito Annalisa , Fiorentino Valeria , Riccitelli Marina , Nitsch Lucio , Brunetti‐Pierri Nicola , Del Giudice Ennio 
Published: November 2013

ABSTRACTWe report on a 21‐year old woman with intellectual disability, autistic features, severe obesity, and facial dysmorphisms suggestive of Wolf–Hirschhorn syndrome (WHS). Array‐CGH analysis showed a 2.89 Mb deletion on chromosome 14q11.2 containing 47 known genes. The most interesting genes included in this deletion are CHD8, a chromodomain helicase DNA binding protein that is associated with autism spectrum disorders, and MMP14, a matrix metalloproteinase that has been linked to obesity and type 2 diabetes. This report shows that 14q11.2 microdeletions can mimic WHS and suggests that gene(s) in the deleted interval that may be responsible for a phenocopy of WHS. © 2013 Wiley Periodicals, Inc.
Co‐occurrence of hemiscrotal agenesis with cutis marmorata telangiectatica congenita and hydronephrosis affecting the same side of the body
Authors: Corona‐Rivera Jorge Román , Acosta‐León Jorge , León‐Hernández Miguel Ángel , Martínez‐Macías Francisco Javier , Bobadilla‐Morales Lucina , Corona‐Rivera Alfredo 
Published: November 2013

AbstractTo our knowledge, there are nine previous reports of patients with congenital scrotal agenesis (CSA), seven of which were bilateral, and unilateral in two, also named as hemiscrotal agenesis (HSA). Here, we report a male infant with the previously undescribed co‐occurrence of HSA with cutis marmorata telangiectatica congenita (CMTC), and hydronephrosis due to vesicoureteral reflux, all of them on the left side. CMTC is a segmental vascular malformation usually attributed to mosaicism of a postzygotic mutation, whereas the mechanisms in the CSA involve a failure on the labioscrotal fold (LSF) development due to a localized 5α‐reductase deficiency and/or androgen insensitivity. Since the skin with HSA was affected also by CMTC and by the fact that it exhibited lack of response to the topical testosterone treatment, all this suggests to us an androgen insensitivity mosaicism in our patient restricted to the left LSF, because skin with intact androgen receptors normally shows some type of response. Since CSA and/or HSA have been also seen in patients with PHACES, popitleal pterygium syndrome, or as part of a recently proposed familial entity with CSA (or agenesis of labia majora as its female counterpart), developmental delay, visual impairment, and moderate hearing loss, further reports could confirm this manifest genetic heterogeneity, highly evocative of somatic mosaicism in our patient. © 2013 Wiley Periodicals, Inc.
Subocclusal dental morphology of sahelanthropus tchadensis and the evolution of teeth in hominins
Authors: Emonet Edouard‐Georges , Andossa Likius , Taïsso Mackaye Hassane , Brunet Michel 
Published: November 2013

ABSTRACTThe evolution of the teeth in hominins is characterized by, among other characters, major changes in root morphology. However, little is known of the evolution from a plesiomorphic, ape‐like root morphology to the crown hominin morphology. Here we present a study of the root morphology of the Miocene Chadian hominin Sahelanthropus tchadensis and its comparison to other hominins. The morphology of the whole lower dentition (I1–M3) was investigated and described. The comparison with the species Ardipithecus kaddaba and Ardipithecus ramidus indicates a global homogeneity of root morphology in early hominins. This morphology, characterized notably by a reduction of the size and number of the roots of premolars, is a composite between an ape‐like morphology and the later hominin morphology. Trends for root evolution in hominins are proposed, including the transition from a basal hominoid to extant Homo sapiens. This study also illustrates the low association between the evolution of tooth root morphology and the evolution of crowns in hominins. Am J Phys Anthropol 153:116–123, 2014. © 2013 Wiley Periodicals, Inc.
Energetic Salts Based on an Oxygen‐Containing Cation: 2,4‐Diamino‐1,3,5‐triazine‐6‐one
Authors: Liu Wei , Lin Qiu‐Han , Yang Yu‐Zhang , Zhang Xue‐Jiao , Li Yu‐Chuan , Lin Zhi‐Hui , Pang Si‐Ping 
Published: November 2013

AbstractA family of energetic salts with high thermal stability and low impact sensitivity based on an oxygen‐containing cation, 2,4‐diamino‐1,3,5‐triazine‐6‐one, were synthesized and fully characterized by IR and multinuclear (1H, 13C) NMR spectroscopy, elemental analysis, and differential scanning calorimetry. Insights into their sensitivities towards impact, friction, and electrostatics were gained by submitting the materials to standard tests. The structures of 2,4‐diamino‐1,3,5‐triazine‐6‐one nitrate, 2,4‐diamino‐1,3,5‐triazine‐6‐one sulfate, 2,4‐diamino‐1,3,5‐triazine‐6‐one perchlorate, 2,4‐diamino‐1,3,5‐triazine‐6‐one 5‐nitrotetrazolate were determined by single‐crystal X‐ray diffraction; their densities are 1.691, 1.776, 1.854, and 1.636 g cm−3, respectively. Most of the salts decompose at temperatures over 180 °C; in particular, the salts 2,4‐diamino‐1,3,5‐triazine‐6‐one nitrate and 2,4‐diamino‐1,3,5‐triazine‐6‐one perchlorate, which decompose at 303.3 and 336.4 °C, respectively, are fairly stable. Furthermore, most of the salts exhibit excellent impact sensitivities (>40 J), friction sensitivities (>360 N), and are insensitive to electrostatics. The measured densities of these energetic salts range from 1.64 to 2.01 g cm−3. The detonation pressure values calculated for these salts range from 14.6 to 29.2 GPa, and the detonation velocities range from 6536 to 8275 m s−1; these values make the salts potential candidates for thermally stable and insensitive energetic materials.
Synthetic Chalcone Derivatives as Inhibitors of Cathepsins K and B, and Their Cytotoxic Evaluation
Authors: Ramalho Suelem Demuner , Bernades Aline , Demetrius Giulio , Noda‐Perez Caridad , Vieira Paulo Cezar , dos Santos Caio Yu , da Silva James Almada , de Moraes Manoel Odorico , Mousinho Kristiana Cerqueira 
Published: November 2013

AbstractA series of chalcone derivatives, 1–15, were prepared by ClaisenSchmidt condensation and evaluated for their cytotoxicities on tumor cell lines and also against proteolytic enzymes such as cathepsins B and K. Of the compounds synthesized, (E)‐3‐(3,4‐dimethoxyphenyl)‐1‐phenylprop‐2‐en‐1‐one (12), (E)‐3‐(4‐chlorophenyl)‐1‐phenylprop‐2‐en‐1‐one (13), (E)‐3‐(4‐methoxyphenyl)‐1‐phenylprop‐2‐en‐1‐one (14), and (E)‐3‐(4‐nitrophenyl)‐1‐phenylprop‐2‐en‐1‐one (15) showed significant cytotoxicities. The most effective compound was 15, which showed high cytotoxic activity with an IC50 value lower than 1 μg/ml, and no selectivity on the tumor cells evaluated. Substituents at C(4) of ring B were found to be essential for cytotoxicity. In addition, it was also demonstrated that some of these chalcones are moderate inhibitors of cathepsin K and have no activity against cathepsin B.