scholarly journals Centriolar Protein C2cd3 Is Required for Craniofacial Development

2021 ◽  
Vol 9 ◽  
Author(s):  
Ching-Fang Chang ◽  
Kari M. Brown ◽  
Yanfen Yang ◽  
Samantha A. Brugmann
Keyword(s):  
Primary Cilia ◽  
Valuable Insight ◽  
Variable Degree ◽  
C2 Domain ◽  
Murine Models ◽  
Allelic Series ◽  
C2 Domains ◽  
Heart Looping ◽  
Pericardial Edema ◽  
Insight Into

The primary cilium is a ubiquitous, microtubule-based cellular organelle. Primary cilia dysfunction results in a group of disorders termed ciliopathies. C2 domain containing 3 centriole elongation regulator (C2cd3), encodes a centriolar protein essential for ciliogenesis. Mutations in human C2CD3 are associated with the human ciliopathy Oral-Facial-Digital syndrome type 14 (OFD14). In order to better understand the etiology of ciliopathies including OFD14, we generated numerous murine models targeting C2cd3. Initial analysis revealed several tissue-specific isoforms of C2cd3, and while the loss of C2cd3 has previously been reported to result in exencephaly, tight mesencephalic flexure, pericardial edema, abnormal heart looping and a twisted body axis, further analysis revealed that genetic background may also contribute to phenotypic variation. Additional analyses of a conditional allelic series targeting C-terminal PKC-C2 domains or the N-terminal C2CD3N-C2 domain of C2cd3 revealed a variable degree of phenotypic severity, suggesting that while the N-terminal C2CD3N-C2 domain was critical for early embryonic development as a whole, there was also a craniofacial specific role for the C2CD3N-C2 domains. Together, through generation of novel models and evaluation of C2cd3 expression, these data provide valuable insight into mechanisms of pathology for craniofacial ciliopathies that can be further explored in the future.

Study of the resistor material of an automotive spark plug by use of the charge-up effect along with elemental mapping in an electron microprobe

1991 ◽  
Vol 49 ◽  
pp. 742-743
Author(s):  
D. R. Liu ◽  
S. S. Shinozaki ◽  
J. S. Park ◽  
B. N. Juterbock
Keyword(s):  
Electron Microprobe ◽  
Present Report ◽  
Coated Sample ◽  
Valuable Insight ◽  
Elemental Mapping ◽  
Spark Plug ◽  
Carbon Coated ◽  
Electron Image ◽  
Electron Imaging ◽  
Insight Into

The electric and thermal properties of the resistor material in an automotive spark plug should be stable during its service lifetime. Containing many elements and many phases, this material has a very complex microstructure. Elemental mapping with an electron microprobe can reveal the distribution of all relevant elements throughout the sample. In this work, it is demonstrated that the charge-up effect, which would distort an electron image and, therefore, is normally to be avoided in an electron imaging work, could be used to advantage to reveal conductive and resistive zones in a sample. Its combination with elemental mapping can provide valuable insight into the underlying conductivity mechanism of the resistor.This work was performed in a CAMECA SX-50 microprobe. The spark plug used in the present report was a commercial product taken from the shelf. It was sectioned to expose the cross section of the resistor. The resistor was known not to contain the precious metal Au as checked on the carbon coated sample. The sample was then stripped of carbon coating and re-coated with Au.

Quantum Mechanical Interpretation of the Ultra-Low Energy Methyl-Rotation Dynamics in Porous Metal-Organic Frameworks Probed by Low-Frequency Vibrational Spectroscopy and ab initio Simulations

2018 ◽  
Author(s):  
Qi Li ◽  
Adam J. Zaczek ◽  
Timothy M. Korter ◽  
J. Axel Zeitler ◽  
Michael T. Ruggiero
Keyword(s):  
Ab Initio ◽  
Metal Organic Frameworks ◽  
Low Frequency ◽  
Rotor Dynamics ◽  
Quantum Mechanical ◽  
Valuable Insight ◽  
Void Space ◽  
Ab Initio Simulations ◽  
Metal Organic ◽  
Insight Into

<div>Understanding the nature of the interatomic interactions present within the pores of metal-organic frameworks</div><div>is critical in order to design and utilize advanced materials</div><div>with desirable applications. In ZIF-8 and its cobalt analogue</div><div>ZIF-67, the imidazolate methyl-groups, which point directly</div><div>into the void space, have been shown to freely rotate - even</div><div>down to cryogenic temperatures. Using a combination of ex-</div><div>perimental terahertz time-domain spectroscopy, low-frequency</div><div>Raman spectroscopy, and state-of-the-art ab initio simulations,</div><div>the methyl-rotor dynamics in ZIF-8 and ZIF-67 are fully charac-</div><div>terized within the context of a quantum-mechanical hindered-</div><div>rotor model. The results lend insight into the fundamental</div><div>origins of the experimentally observed methyl-rotor dynamics,</div><div>and provide valuable insight into the nature of the weak inter-</div><div>actions present within this important class of materials.</div>

A Review of Phytochemical and Pharmacological Studies of Inula Species

2020 ◽  
Vol 16 (5) ◽  
pp. 557-567
Author(s):  
Aparoop Das ◽  
Anshul Shakya ◽  
Surajit Kumar Ghosh ◽  
Udaya P. Singh ◽  
Hans R. Bhat
Keyword(s):  
Bacterial Infections ◽  
Chemical Constituents ◽  
Valuable Insight ◽  
Important Ingredient ◽  
Pharmacological Activities ◽  
Medicinal Uses ◽  
The Family ◽  
Pharmacological Studies ◽  
Perennial Herbs ◽  
Insight Into

Background: Plants of the genus Inula are perennial herbs of the family Asteraceae. This genus includes more than 100 species, widely distributed throughout Europe, Africa and Asia including India. Many of them are indicated in traditional medicine, e.g., in Ayurveda. This review explores chemical constituents, medicinal uses and pharmacological actions of Inula species. Methods: Major databases and research and review articles retrieved through Scopus, Web of Science, and Medline were consulted to obtain information on the pharmacological activities of the genus Inula published from 1994 to 2017. Results: Inula species are used either alone or as an important ingredient of various formulations to cure dysfunctions of the cardiovascular system, respiratory system, urinary system, central nervous system and digestive system, and for the treatment of asthma, diabetes, cancers, skin disorders, hepatic disease, fungal and bacterial infections. A range of phytochemicals including alkaloids, essential and volatile oils, flavonoids, terpenes, and lactones has been isolated from herbs of the genus Inula, which might possibly explain traditional uses of these plants. Conclusion: The present review is focused on chemical constituents, medicinal uses and pharmacological actions of Inula species and provides valuable insight into its medicinal potential.

scholarly journals Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Carla De Angelis ◽  
Alicia B. Byrne ◽  
Rebecca Morrow ◽  
Jinghua Feng ◽  
Thuong Ha ◽  
...  
Keyword(s):  
Cortical Development ◽  
Occipital Cortex ◽  
Compound Heterozygous ◽  
Valuable Insight ◽  
Periventricular Nodular Heterotopia ◽  
Case Presentation ◽  
Malformation Of Cortical Development ◽  
Nodular Heterotopia ◽  
Compound Heterozygous Variants ◽  
Insight Into

Abstract Background Periventricular nodular heterotopia (PNH) is a malformation of cortical development characterized by nodules of abnormally migrated neurons. The cause of posteriorly placed PNH is not well characterised and we present a case that provides insights into the cause of posterior PNH. Case presentation We report a fetus with extensive posterior PNH in association with biallelic variants in LAMC3. LAMC3 mutations have previously been shown to cause polymicrogyria and pachygyria in the occipital cortex, but not PNH. The occipital location of PNH in our case and the proposed function of LAMC3 in cortical development suggest that the identified LAMC3 variants may be causal of PNH in this fetus. Conclusion We hypothesise that this finding extends the cortical phenotype associated with LAMC3 and provides valuable insight into genetic cause of posterior PNH.

scholarly journals Detecting Convergence Trends among EU Universities

Economies ◽  
2021 ◽  
Vol 9 (2) ◽  
pp. 42
Author(s):  
Maria Adamakou ◽  
Dimitris Kallioras ◽  
George Petrakos
Keyword(s):  
Methodological Approach ◽  
Basic Research ◽  
Valuable Insight ◽  
Traditional Role ◽  
University Ranking ◽  
Convergence Clubs ◽  
Development Processes ◽  
The Impact ◽  
The Empirical Analysis ◽  
Insight Into

Universities are emerging growth determinants. This is so as, in addition to the fulfillment of their traditional role in teaching and (basic) research, universities, as aptly described within the helix framework, are expected to engage in regional development processes. The paper aims to detect trends of convergence among EU universities in terms of performance. To the best of our knowledge, this topic has not hitherto been examined. The empirical analysis of the paper covers the period 2014–2021, utilizes data obtained from URAP (University Ranking by Academic Performance), and employs the methodological approach of convergence clubs. The findings of the paper provide valuable insight into both theory and policy-making. We conclude that despite the unification of EU educational space, trends of divergence among EU universities are still present, and notable divisions still remain. Consequently, this indicates that the impact of EU universities on the formation of spatial disparities across EU space is not neutral.

scholarly journals Exploration of Alternative Splicing Events in Mesenchymal Stem Cells from Human Induced Pluripotent Stem Cells

Genes ◽  
2021 ◽  
Vol 12 (5) ◽  
pp. 737
Author(s):  
Ji-Eun Jeong ◽  
Binna Seol ◽  
Han-Seop Kim ◽  
Jae-Yun Kim ◽  
Yee-Sook Cho
Keyword(s):  
Stem Cells ◽  
Mesenchymal Stem Cells ◽  
Alternative Splicing ◽  
Functional Enrichment ◽  
Actin Binding ◽  
Pcr Analysis ◽  
Valuable Insight ◽  
Sequencing Analysis ◽  
Induced Pluripotent ◽  
Insight Into

Although comparative genome-wide transcriptomic analysis has provided insight into the biology of human induced pluripotent stem cell-derived mesenchymal stem cells (iMSCs), the distinct alternative splicing (AS) signatures of iMSCs remain elusive. Here, we performed Illumina RNA sequencing analysis to characterize AS events in iMSCs compared with tissue-derived MSCs. A total of 4586 differentially expressed genes (|FC| > 2) were identified between iMSCs and umbilical cord blood-derived MSCs (UCB-MSCs), including 2169 upregulated and 2417 downregulated genes. Of these, 164 differentially spliced events (BF > 20) in 112 genes were identified between iMSCs and UCB-MSCs. The predominant type of AS found in iMSCs was skipped exons (43.3%), followed by retained introns (19.5%), alternative 3′ (15.2%) and 5′ (12.8%) splice sites, and mutually exclusive exons (9.1%). Functional enrichment analysis showed that the differentially spliced genes (|FC| > 2 and BF > 20) were mainly enriched in functions associated with focal adhesion, extracellular exosomes, extracellular matrix organization, cell adhesion, and actin binding. Splice isoforms of selected genes including TRPT1, CNN2, and AP1G2, identified in sashimi plots, were further validated by RT-PCR analysis. This study provides valuable insight into the biology of iMSCs and the translation of mechanistic understanding of iMSCs into therapeutic applications.

Craniopharyngioma: 10 Selected Works That Provide Comprehensive and Valuable Insight into These Complex Tumors

2019 ◽  
Vol 122 ◽  
pp. 710-712 ◽  
Author(s):  
José María Pascual ◽  
Ruth Prieto ◽  
Rodrigo Carrasco
Keyword(s):  
Valuable Insight ◽  
Insight Into

scholarly journals The C2A-C2B Linker Defines the High Affinity Ca2+ Binding Mode of Rabphilin-3A

2006 ◽  
Vol 282 (7) ◽  
pp. 5015-5025 ◽  
Author(s):  
Pierre Montaville ◽  
Christine Schlicker ◽  
Andrei Leonov ◽  
Markus Zweckstetter ◽  
George M. Sheldrick ◽  
...  
Keyword(s):  
Binding Mode ◽  
Bound State ◽  
C2 Domain ◽  
Binding Assays ◽  
Host Proteins ◽  
Binding Properties ◽  
C2 Domains ◽  
Phospholipid Binding ◽  
Acidic Residues ◽  
Structural Base

The Ca2+ binding properties of C2 domains are essential for the function of their host proteins. We present here the first crystal structures showing an unexpected Ca2+ binding mode of the C2B domain of rabphilin-3A in atomic detail. Acidic residues from the linker region between the C2A and C2B domains of rabphilin-3A interact with the Ca2+-binding region of the C2B domain. Because of these interactions, the coordination sphere of the two bound Ca2+ ions is almost complete. Mutation of these acidic residues to alanine resulted in a 10-fold decrease in the intrinsic Ca2+ binding affinity of the C2B domain. Using NMR spectroscopy, we show that this interaction occurred only in the Ca2+-bound state of the C2B domain. In addition, this Ca2+ binding mode was maintained in the C2 domain tandem fragment. In NMR-based liposome binding assays, the linker was not released upon phospholipid binding. Therefore, this unprecedented Ca2+ binding mode not only shows how a C2 domain increases its intrinsic Ca2+ affinity, but also provides the structural base for an atypical protein-Ca2+-phospholipid binding mode of rabphilin-3A.

scholarly journals The history of settlement and agrarian land use in a boreal forest in Värmland, Sweden, new evidence from pollen analysis

2021 ◽  
Author(s):  
Sigrún Dögg Eddudóttir ◽  
Eva Svensson ◽  
Stefan Nilsson ◽  
Anneli Ekblom ◽  
Karl-Johan Lindholm ◽  
...  
Keyword(s):  
Land Use ◽  
Pollen Analysis ◽  
Large Scale ◽  
Pollen Grains ◽  
Ice Age ◽  
Valuable Insight ◽  
Archaeological Survey ◽  
History Of ◽  
New Evidence ◽  
Insight Into

AbstractShielings are the historically known form of transhumance in Scandinavia, where livestock were moved from the farmstead to sites in the outlands for summer grazing. Pollen analysis has provided a valuable insight into the history of shielings. This paper presents a vegetation reconstruction and archaeological survey from the shieling Kårebolssätern in northern Värmland, western Sweden, a renovated shieling that is still operating today. The first evidence of human activities in the area near Kårebolssätern are Hordeum- and Cannabis-type pollen grains occurring from ca. 100 bc. Further signs of human impact are charcoal and sporadic occurrences of apophyte pollen from ca. ad 250 and pollen indicating opening of the canopy ca. ad 570, probably a result of modification of the forest for grazing. A decrease in land use is seen between ad 1000 and 1250, possibly in response to a shift in emphasis towards large scale commodity production in the outlands. Emphasis on bloomery iron production and pitfall hunting may have caused a shift from agrarian shieling activity. The clearest changes in the pollen assemblage indicating grazing and cultivation occur from the mid-thirteenth century, coinciding with wetter climate at the beginning of the Little Ice Age. The earliest occurrences of anthropochores in the record predate those of other shieling sites in Sweden. The pollen analysis reveals evidence of land use that predates the results of the archaeological survey. The study highlights how pollen analysis can reveal vegetation changes where early archaeological remains are obscure.

Nubian Texts, Nubian Lives

2021 ◽  
pp. 771-786
Author(s):  
Giovanni R. Ruffini
Keyword(s):  
Economic History ◽  
World History ◽  
Valuable Insight ◽  
Documentary Evidence ◽  
Literary Genres ◽  
State Centralization ◽  
Insight Into ◽  
Flow Over Time ◽  
Over Time ◽  
Ebb And Flow

Nubian texts provide valuable insight into Nubian social and economic history. Accounts reveal economic priorities both secular and sacred. Documentary evidence hints at the nature of state centralization and the movement of goods and coins in and out of Nubia. Magic reveals Nubia’s deep-seated hopes and fears. Literature shows innovative theology and Nubia’s sense of its place in world history. Funerary inscriptions record the careers of the elite and their sense of their own place in the cosmos. But much is missing from the Nubian textual record as well, suggesting that major literary genres never indigenized in Nubia the way they did in Egypt or Ethiopia. Other genres ebb and flow over time, hinting at the economy of Nubian literacy and the processes through which it ultimately dies.

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