bluuebunny/crossref_metadata_2025_split huggingface dataset:
Role of
ATRX
Chromatin Remodelling Factor in α‐Thalassaemia
X
‐Linked Mental Retardation
Authors: Young Kevin G , Picketts David J 
Published: November 2016

Abstract

α‐Thalassaemia X‐linked mental retardation (ATR‐X syndrome) is a congenital disorder typified by intellectual disability, abnormalities in growth and genital formation, and mild anaemia. Mutations resulting in the reduced function of the ATRX chromatin remodelling protein underlie these symptoms. Variability in the severity of disease characteristics may be associated either with mutations that affect different regions of ATRX or with individual variability in the chromosome landscape targeted by it. ATRX associates with proteins involved in regulating chromatin structure and repression of gene expression in repetitive, transcriptionally silent regions of the genome. Loss of ATRX function can be associated with altered gene expression, including reduced α‐globin expression; impairment in DNA repair; and the maintenance of chromosome stability, which may most critically affect normal development within tissues such as the brain and testes. The current standard of care for ATR‐X syndrome focuses on the management of symptoms, with targeted therapeutics lacking.

Key Concepts

ATR‐X syndrome is caused by loss‐of‐function mutations that result in the diminished expression, or reduced functionality, of the ATRX protein.

Though clinical features of ATR‐X syndrome show variability, common characteristics include facial dysmorphism, stunted growth, hypotonia, microcephaly, intellectual disability, mild anaemia with detectable haemoglobin H (HbH) and genital abnormalities.

ATR‐X syndrome is a nonprogressive disorder, involving abnormal development.

ATRX is a widely expressed chromatin remodelling protein, whose function affects both genomic stability and gene expression.

The histone chaperone complex formed by DAXX and ATRX is critical for loading the histone variant H3.3 onto chromatin.

The function of ATRX may be most critical during the rapid expansion of cells that occurs during development within particular organs, such as the expansion of cortical neurons in the brain or Sertoli cells in the testes.
Congenital Disorders of Glycosylation (
CDG
): Review
Authors: Witters Peter , Morava Eva 
Published: November 2016

Abstract

Glycosylation is the most important posttranslational change for proteins. There are more than 100 different types of congenital disorders of glycosylation (CDG). The most frequent is PMM2‐CDG with over 700 patients described.
N‐Linked glycosylation starts from the cytoplasm through the endoplasmic reticulum to the Golgi apparatus, leading to CDG‐I and CDG‐II defects, respectively. Secretory N‐glycosylation abnormalities can be demonstrated by transferrin isoelectric focusing (the screening test for most CDG types). There are also congenital O‐linked, combined and lipid‐linked glycosylation defects.
Clinically, there is often multisystem involvement or a neurologic phenotype. Multiple abnormalities are usually present by routine laboratory analysis (e.g. increased serum transaminases, decreased coagulation factors and endocrine anomalies).
Aetiologic treatment is limited to a handful of CDG (mannose supplementation for MPI‐CDG and galactose for PGM1‐CDG). The mainstay is supportive care. Twenty percent of patients with PMM2‐CDG die within 2 years; once the age of 4 year is reached, chances for survival rise dramatically.

Key Concepts

Glycosylation is essential for the normal function of glycosylated proteins (and lipids), and plays a role in many biologic processes such as endocrine regulation, coagulation, immunity, cell–cell interaction and organogenesis.

From the different types of glycosylation defects, N‐linked glycosylation defects are the most common and lead to an easily detectable, mostly multisystem disease.

Serum transferrin isoelectric focusing detects the missing negative charges of sialic acid in almost all secretory N‐linked glycosylation defects.

Tissue‐specific O‐linked glycosylation defects and GPI‐anchor‐linked glycosylation defects are mostly recognisable syndromes diagnosed by genetic diagnostic methods.

The most common CDG type, PMM2‐CDG, shows a phenotype of inverted nipples, abnormal fat pads, strabismus, hypotonia and feeding difficulties from a few months of age.

Congenital anomalies are relatively common in CDG, including cerebellar vermis hypoplasia, eye malformations, cardiac defects, abnormal fat distribution, skeletal dysplasia, arachnodactyly or cleft palate.

Specific treatment is only available for PMI‐CDG, namely oral mannose supplementation.

Galactose treatment is beneficial for the endocrine, liver and coagulation problems in PGM1‐CDG.
Contextualizing the Psychosocial Well‐being of Military Members and Their Partners: The Importance of Community and Relationship Provisions
Authors: O'Neal Catherine Walker , Mancini Jay A. , DeGraff Alycia 
Published: November 2016

AbstractEvidence of the impact of communities has been documented for a variety of individual and relational outcomes, including mental and physical health as well as the quality of romantic and parent–child relationships. The military represents a rather unique work context; in that, it is generally considered a lifestyle with a distinct culture and community. Yet, military families are also members of their broader, comprehensive community. Drawing from the social organizational theory of action and change (SOC) (Mancini & Bowen, 2013), and relationship provisions theory (Weiss, 1969) and utilizing a sample of 266 active duty military families, this study examined connectedness with the military community and the broader, comprehensive community. A dyadic model was evaluated whereby each partner's perspective of their comprehensive and military community was hypothesized to influence their own psychosocial well‐being as well as their partner's psychosocial well‐being. The role of relationship provisions (that is, having relationship needs met) as a mechanism linking community connections to psychosocial well‐being was also examined. Overall, the findings supported the hypothesized model, particularly for intra‐individual effects and military members. Findings emphasize the importance of considering what is gained from connections within a community rather than a focus solely on the connections themselves.
Design and Enantioselective Construction of Axially Chiral Naphthyl‐Indole Skeletons
Authors: Zhang Hong‐Hao , Wang Cong‐Shuai , Li Can , Mei Guang‐Jian , Li Yuxue , Shi Feng 
Published: November 2016

AbstractThe first enantioselective construction of a new class of axially chiral naphthyl‐indole skeletons has been established by organocatalytic asymmetric coupling reactions of 2‐naphthols with 2‐indolylmethanols (up to 99 % yield, 97:3 e.r.). This approach not only affords a new type of axially chiral heterobiaryl backbone, but also provides a new catalytic enantioselective strategy for constructing axially chiral biaryl scaffolds by making use of the C3‐electrophilicity of 2‐indolylmethanols.
Site Preference in Multimetallic Nanoclusters: Incorporation of Alkali Metal Ions or Copper Atoms into the Alkynyl‐Protected Body‐Centered Cubic Cluster [Au7Ag8(C≡CtBu)12]+
Authors: Wang Yu , Su Haifeng , Ren Liting , Malola Sami , Lin Shuichao , Teo Boon K. , Häkkinen Hannu , Zheng Nanfeng 
Published: November 2016

AbstractThe synthesis, structure, substitution chemistry, and optical properties of the gold‐centered cubic monocationic cluster [Au@Ag8@Au6(C≡CtBu)12]+ are reported. The metal framework of this cluster can be described as a fragment of a body‐centered cubic (bcc) lattice with the silver and gold atoms occupying the vertices and the body center of the cube, respectively. The incorporation of alkali metal atoms gave rise to [MnAg8−nAu7(C≡CtBu)12]+ clusters (n=1 for M=Na, K, Rb, Cs and n=2 for M=K, Rb), with the alkali metal ion(s) presumably occupying the vertex site(s), whereas the incorporation of copper atoms produced [CunAg8Au7−n(C≡CtBu)12]+ clusters (n=1–6), with the Cu atom(s) presumably occupying the capping site(s). The parent cluster exhibited strong emission in the near‐IR region (λmax=818 nm) with a quantum yield of 2 % upon excitation at λ=482 nm. Its photoluminescence was quenched upon substitution with a Na+ ion. DFT calculations confirmed the superatom characteristics of the title compound and the sodium‐substituted derivatives.
pH‐Controlled Formation of a Stable β‐Sheet and Amyloid‐like Fibers from an Amphiphilic Peptide: The Importance of a Tailor‐Made Binding Motif for Secondary Structure Formation
Authors: Jana Poulami , Ehlers Martin , Zellermann Elio , Samanta Krishnananda , Schmuck Carsten 
Published: November 2016

AbstractThe new amphiphilic peptide 1 is composed of alternating cyclohexyl side chains and guanidiniocarbonyl pyrrole (GCP) groups. In contrast to analogue 2, which contains lysine instead of the GCP groups and only exists as a random coil owing to charge repulsion, peptide 1 forms a stable β‐sheet at neutral pH in aqueous medium. The weakly basic GCP groups (pKa≈7) are key for secondary structure formation as they stabilize the β‐sheet through mutual interactions (formation of a “GCP zipper”). The β‐sheets further aggregate into left‐handed helically twisted fibers. However, β‐sheet formation is completely reversible as a function of pH. At low pH (ca. 4), peptide 1 is unstructured (random coil) as all GCP units are protonated. Only round colloidal particles are observed. The amyloid nature of the fibers formed at neutral pH was confirmed by staining experiments with Congo Red and thioflavin T. Furthermore, at millimolar concentrations, peptide 1 forms a stable hydrogel.
Role of Achiral Nucleobases in Multicomponent Chiral Self‐Assembly: Purine‐Triggered Helix and Chirality Transfer
Authors: Deng Ming , Zhang Li , Jiang Yuqian , Liu Minghua 
Published: November 2016

AbstractChiral self‐assembly is a basic process in biological systems, where many chiral biomolecules such as amino acids and sugars play important roles. Achiral nucleobases usually covalently bond to saccharides and play a significant role in the formation of the double helix structure. However, it remains unclear how the achiral nucleobases can function in chiral self‐assembly without the sugar modification. Herein, we have clarified that purine nucleobases could trigger N‐(9‐fluorenylmethox‐ycarbonyl) (Fmoc)‐protected glutamic acid to self‐assemble into helical nanostructures. Moreover, the helical nanostructure could serve as a matrix and transfer the chirality to an achiral fluorescence probe, thioflavin T (ThT). Upon chirality transfer, the ThT showed not only supramolecular chirality but also circular polarized fluorescence (CPL). Without the nucleobase, the self‐assembly processes cannot happen, thus providing an example where achiral molecules played an essential role in the expression and transfer of the chirality.
Zur Mindestquerkraftbewehrung von Stahlbetonbalken
Authors: Kley Christina , Mark Peter 
Published: November 2016

AbstractDer Ansatz einer definierten Mindestmenge an Querkraftbewehrung soll, bei gleichzeitiger Einhaltung konstruktiver Regeln, ein duktiles Tragverhalten von Stahlbetonbalken sicherstellen. Bei Unterschreitung der geforderten Bewehrungsmenge muss allerdings nicht zwingend sprödes Versagen auftreten. Abhängig von Position und Menge der vorhandenen Bewehrung, dem Einfluss weiterer Traganteile sowie der Rissbildung ist eine Übernahme der Risslast, auch inklusive anschließender Laststeigerung und sinnvoller Schubrissbreitenbeschränkungen, möglich. Dies ist zur Bewertung von schwach querkraftbewehrten Bestandsbauwerken als „ausreichend duktil” hilfreich. In Balkenversuchen an schwach querkraftbewehrten Stahlbetonbauteilen werden Trag‐ und Verformungsverhaltensweisen unter Berücksichtigung des kritischen Versagensrisses und der konstruktiven Umsetzung analysiert und in Bezug auf nötige Mindestquerkraftbewehrungsmengen bewertet. Dabei werden der Schubwiderstand sowie die Bügelwirksamkeit im identifizierten effektiven Schubbereich untersucht und Hinweise für die praktische Umsetzung abgeleitet.
Schubversuche an simulierten Durchlaufbalken ohne Querkraftbewehrung
Authors: Tue Nguyen Viet , Ehmann Rainer , Betschoga Christoph , Tung Nguyen Duc 
Published: November 2016

AbstractDer vorliegende Aufsatz präsentiert eine experimentelle Untersuchung zum Querkraftverhalten von Durchlaufbalken ohne Querkraftbewehrung. Fünf rechteckige zweifeldrige Stahlbetonbalken wurden hierbei mit einer Gleichstreckenlast getestet. Die Felder wurden so geteilt, dass jeder Balken ein langes Hauptfeld als untersuchtes Feld und ein kurzes, stark querkraftbewehrtes Feld besaß. Die Lagerkraft am Endauflager des kurzen Felds wurde während der Versuchsdurchführung modifiziert. Dadurch konnten verschiedene M/V‐Verhältnisse am Hauptfeld eingestellt werden. Die Ergebnisse zeigen erhebliche Unterschiede sowohl bei der Versagensstelle als auch bei der Querkrafttragfähigkeit am untersuchten Feld bei unterschiedlichen M/V‐Verhältnissen. Mit den Versuchsergebnissen kann festgestellt werden, dass die Querkrafttragfähigkeit keine reine Querschnitts‐, sondern vielmehr eine Systemeigenschaft darstellt. Eine solche Betrachtung ist auf Grundlage der vorhandenen Ansätze, einschließlich des aktuellen Eurocode, nicht möglich.Das beobachtete Verhalten in den Versuchen konnte mit dem jüngst entwickelten Ansatz im Allgemeinen gut begründet und interpretiert werden. Aufgrund der gewonnenen Erkenntnisse werden Anmerkungen für die Versuchsgestaltung gegeben, sodass praxisgerechte experimentelle Ergebnisse erhalten werden können. Dies soll dazu beitragen, das komplexe Querkraftverhalten von Durchlaufbalken in naher Zukunft besser verstehen zu können.
Querkraftwiderstand von Stahlbetonbauteilen ohne Querkraftbewehrung
Authors: Marti Peter , Beck Alexander 
Published: November 2016

AbstractEine neue Modellvorstellung zum Querkraftwiderstand von Stahlbetonbauteilen ohne Querkraftbewehrung wird beschrieben. Betrachtet werden Schnittkörper, die einseitig durch einen fiktiven, unter π/4 zum Zuggurt geneigten Riss begrenzt sind, der sich vom Zuggurt zum Druckgurt erstreckt. Es wird angenommen, dass die über einen Riss übertragbare Schubspannung mit zunehmender Rissbreite linear abnimmt und dass die Rissbreite auf der Höhe des Zuggurts zur Zuggurtdehnung im Riss und zum Gurtabstand proportional ist. Damit resultiert bei elastisch bleibender Bewehrung ein linear‐hyper bolischer Zusammenhang zwischen dem Querkraftwiderstand und der Zuggurtkraft am Riss, und die maßgebende Risslage sowie alle weiteren interessierenden Größen können über Gleichgewichtsbetrachtungen ermittelt werden. Dabei ist zu beachten, dass die Risslage wegen der möglichen direkten Abstützung auflagernaher Lasten eingeschränkt ist; es wird angenommen, dass die entsprechende Länge gleich dem doppelten Gurtabstand ist.
Die neue Lahntalbrücke Limburg im Zuge der BAB 3 – Wettbewerb und Entwurf
Authors: Nusch Annett , Nieder Norbert 
Published: November 2016

AbstractAn der Lahntalbrücke Limburg wird das Bemühen der planenden Ingenieure/innen und Architekten/innen deutlich, immer dann, wenn ein Neubau erforderlich wird, für das repräsenta tive Tal eine gelungen gestaltete Brückenkonstruktion auszu arbeiten. Bei beiden Ersatzneubauten, auch nötig, um dem stetig steigenden Verkehrsaufkommen gerecht zu werden, haben sich im Wettbewerb Spannbetonkonstruktionen durchgesetzt, die optisch im Wesentlichen durch ihre Schlichtheit überzeugen und dem Dom seine gestalterische Präsenz im Tal belassen.
Rechnerische Beurteilung der Schubtragfähigkeit einer Spannbetonbrücke mit geringem Querkraft bewehrungsgrad
Authors: Huber Patrick , Kratzer Kurt , Huber Tobias , Kleiser Michael , Kollegger Johann 
Published: November 2016

AbstractIn den letzten Jahren wurde vermehrt darüber berichtet, dass es in Österreich im Zuge von statischen Nachrechnungen nach dem aktuellen Normenstand vor allem bei Spannbetonbrücken, welche vor 1989 errichtet wurden, sehr häufig zu rechnerischen Defiziten in der Querkrafttragfähigkeit kommt. Wie Versuchsergebnisse jedoch belegen, verfügen gerade vorgespannte Tragwerke über immense Tragreserven, welche mit den derzeit anzuwendenden Ansätzen nicht abgebildet werden können. Im Rahmen eines Pilotprojekts wurde daher erstmals ein an der TU Wien entwickeltes Querkraft‐Berechnungsmodell („Flexural Shear Crack”‐Modell) angewendet. In diesem Artikel werden die Vorgehensweise sowie die Ergebnisse einer statischen Beurteilung auf Basis eines in Zonen eingeteilten Nachweiskonzepts an einer realen Spannbetonstraßenbrücke auf der Tauernautobahn A10 in Österreich demonstriert.
Spectroscopic insight into the interaction of bovine serum albumin with imidazolium‐based ionic liquids in aqueous solution
Authors: Satish Lakkoji , Millan Sabera , Sahoo Harekrushna 
Published: November 2016

AbstractThe study of protein–ionic liquid interactions is very important because of the widespread use of ionic liquids as protein stabilizer in the recent years. In this work, the interaction of bovine serum albumin (BSA) with different imidazolium‐based ionic liquids (ILs) such as [1‐ethyl‐3‐methyl‐imidazolium ethyl sulfate (EmimESO4), 1‐ethyl‐3‐methyl‐imidazolium chloride (EmimCl) and 1‐butyl‐3‐methyl‐imidazolium chloride (BmimCl)] has been investigated using different spectroscopic techniques. The intrinsic fluorescence of BSA is quenched by ILs by the dynamic mechanism. The thermodynamic analysis demonstrates that very weak interactions exist between BSA and ILs. 8‐Anilino‐1‐naphthalenesulfonic acid (ANS) fluorescence and lifetime measurements reveal the formation of the compact structure of BSA in IL medium. The conformational changes of BSA were monitored by CD analysis. Temperature‐dependent ultraviolet (UV) measurements were done to study the thermal stability of BSA. The thermal stability of BSA in the presence of ILs follows the trend EmimESO4 > EmimCl > BmimCl and in the presence of more hydrophobic IL, destabilization increases rapidly as a function of concentration.
Systems biology for understanding and engineering of heterotrophic oleaginous microorganisms
Authors: Park Beom Gi , Kim Minsuk , Kim Joonwon , Yoo Heewang , Kim Byung‐Gee 
Published: November 2016

AbstractHeterotrophic oleaginous microorganisms continue to draw interest as they can accumulate a large amount of lipids which is a promising feedstock for the production of biofuels and oleochemicals. Nutrient limitation, especially nitrogen limitation, is known to effectively trigger the lipid production in these microorganisms. For the aim of developing improved strains, the mechanisms behind the lipid production have been studied for a long time. Nowadays, system‐level understanding of their metabolism and associated metabolic switches is attainable with modern systems biology tools. This work reviews the systems biology studies, based on (i) top‐down, large‐scale ‘omics’ tools, and (ii) bottom‐up, mathematical modeling methods, on the heterotrophic oleaginous microorganisms with an emphasis on further application to metabolic engineering.
Semester‐long inquiry‐based molecular biology laboratory: Transcriptional regulation in yeast
Authors: Oelkers Peter M. 
Published: November 2016

AbstractA single semester molecular biology laboratory has been developed in which students design and execute a project examining transcriptional regulation in Saccharomyces cerevisiae. Three weeks of planning are allocated to developing a hypothesis through literature searches and use of bioinformatics. Common experimental plans address a cell process and how three genes that encode for proteins involved in that process are transcriptionally regulated in response to changing environmental conditions. Planning includes designing oligonucleotides to amplify the putative promoters of the three genes of interest. After the PCR, each product is cloned proximal to β‐galactosidase in a yeast reporter plasmid. Techniques used include agarose electrophoresis, extraction of DNA from agarose, plasmid purification from bacteria, restriction digestion, ligation, and bacterial transformation. This promoter/reporter plasmid is then transformed into yeast. Transformed yeast are cultured in conditions prescribed in the experimental design, lysed and β‐galactosidase activity is measured. The course provides an independent research experience in a group setting. Notebooks are maintained on‐line with regular feedback. Projects culminate with the presentation of a poster worth 60% of the grade. Over the last three years, about 65% of students met expectations for experimental design, data acquisition, and analysis. © 2016 by The International Union of Biochemistry and Molecular Biology, 45(2):145–151, 2017.
Identification and quantification of thymol metabolites in plasma, liver and duodenal wall of broiler chickens using UHPLC‐ESI‐QTOF‐MS
Authors: Pisarčíková Jana , Oceľová Vladimíra , Faix Štefan , Plachá Iveta , Calderón Angela I. 
Published: November 2016

AbstractIn the present study, we aimed to develop a method for thymol sulfate and thymol glucuronide determination in plasma, liver and duodenal wall of broiler chickens after feeding with a Thymus vulgaris essential oil at the different concentrations (0.01, 0.05 and 0.1% w/w). UHPLC coupled with accurate‐mass QTOF‐MS was used for identification and quantification of thymol metabolites. Novel Waters Oasis Prime HLB solid‐phase extraction cartridges were applied to sample clean‐up with extraction recoveries ranged from 85 to 92%. The presence of thymol glucuronide was confirmed by MS software according to molecular formula, score, mass error and double bond equivalent. In terms of validation, calibration curves of thymol sulfate were constructed in matrix samples with linearity from 3.91 to 250.0 ng/mL and correlation coefficients were within the range of 0.9979–0.9995. Limits of detection were 0.97, 0.29 and 0.63 ng/mL and limits of quantification were 3.23, 0.97 and 2.09 ng/mL for plasma, liver and duodenal wall, respectively. Intra‐day and inter‐day precision expressed as relative standard deviation were <4.35%. To highlight, thymol metabolites were directly detected for the first time in liver and duodenal wall and this method was shown to be successfully applicable for investigation of thymol metabolism in chickens after thyme essential oil ingestion.