Aggregation of egg and wheat proteins during cake mixing and baking was monitored by SE-HPLC after sequential extraction of dough and baked cakes in SDS-buffer first and then in SDS/DTE buffer. Three ...cake recipes were compared, including either only egg, only flour, or both flour and egg proteins. Dough mixing did not result in any changes in protein solubility or size distribution. Baking promoted protein aggregation and quickly resulted in the solubility loss of all proteins within the first extracting solvent with the exception of wheat omega gliadins. Upon baking similar kinetics of proteins solubility loss in SDS-buffer were observed regardless of cake recipes. Extraction of the remaining SDS-insoluble proteins with SDS/DTE buffer allowed total protein recovery but only in the case of cakes made on the basis of only flour. For cakes including eggs and despite the presence of DTE a disulfide reducing agent, very large polymers were release into solution, contrarily to the only flour cakes where only small polypeptides (>70,000 g/mol) were mostly recovered. Protein sequential extraction combined with SE-HPLC analysis highlighted the critical role of egg proteins in triggering wheat and egg proteins complexation into SDS-insoluble aggregates stabilized through disulfide but also non-reducible covalent bonds.
•Cake protein aggregation during processing was studied using SE-HPLC.•Dough mixing does not impact the size distribution of egg and flour proteins.•Egg and flour proteins formed mixed aggregates upon baking.•Mixed aggregates are stabilized by thiol/disulfide and iso-peptide bonds.•Eggs proteins contribute to strengthen the cake protein network.
MED12 is a subunit of the Mediator multiprotein complex with a central role in RNA polymerase II transcription and regulation of cell growth, development, and differentiation. This might underlie the ...variable phenotypes in males carrying missense variants in MED12, including X-linked recessive Ohdo, Lujan, and FG syndromes.
By international matchmaking we assembled variant and clinical data on 18 females presenting with variable neurodevelopmental disorders (NDDs) and harboring de novo variants in MED12.
Five nonsense variants clustered in the C-terminal region, two splice variants were found in the same exon 8 splice acceptor site, and 11 missense variants were distributed over the gene/protein. Protein truncating variants were associated with a severe, syndromic phenotype consisting of intellectual disability (ID), facial dysmorphism, short stature, skeletal abnormalities, feeding difficulties, and variable other abnormalities. De novo missense variants were associated with a less specific, but homogeneous phenotype including severe ID, autistic features, limited speech and variable other anomalies, overlapping both with females with truncating variants as well as males with missense variants.
We establish de novo truncating variants in MED12 as causative for a distinct NDD and de novo missense variants as causative for a severe, less specific NDD in females.
Raw nacre implants persist even after 9 months of implantation into bone tissue in sheep. However the nacre surface undergoes a limited biodegradation process. Smooth-surfaced nacre implants were ...seen to become microporous after implantation. The results of these long-term, in vivo studies show that the overall process involves bone-resorbing cells, relies on a two-phase mechanism and may correspond to a regulation process. The rate of surface change depends on the bone implantation site and the nacre/bone interaction. The in vivo biodegradability of nacre is a highly variable parameter. The size and shape of the implanted nacre and the cellular environment of the implant are key factors in determining the biodegradation kinetics of the nacre in a living system.
Demand for health-oriented bakery products with low sugar, low fat and high fibre contents is increasing. Incorporating dietary fibre in biscuit dough tends to require some increase in its hydration ...level depending on fibre types and contents. This correction is usually managed empirically by skilled operators or bakers. In order to improve the understanding of the impact of dietary fibre on dough processing and properties, two complementary approaches are proposed. The first is a sensory description that helps formalize the hydration correction of biscuit dough enriched in fibre. The second focuses on the prediction of biscuit dough hydration, based on the evaluation of fibre and sugar water holding capacity (WHC) with the Farinograph. A polynomial model was used to describe the Farinograph water absorption versus the powder content. The WHC was computed from data obtained with the Farinograph, and it was used in biscuit dough in order to try to predict biscuit dough hydration. This model was compared to the actual added water, evaluated by the sensory methodology. A simple relationship was found between the actual and predicted amount of water. These two approaches are tools that help the formulation of biscuits with high dietary fibre content.
•An approach combining sensory and technological aspects of rotary dough.•A sensory tool to accelerate biscuit formulation.•Prediction of biscuits dough hydration enriched in fibres.•Sensory and technological approaches combined to optimise rotary moulding process.
Identification of rare genetic variants in patients with intellectual disability (ID) has been greatly accelerated by advances in next generation sequencing technologies. However, due to small ...numbers of patients, the complete phenotypic spectrum associated with pathogenic variants in single genes is still emerging. Among these genes is ZBTB18 (ZNF238), which is deleted in patients with 1q43q44 microdeletions who typically present with ID, microcephaly, corpus callosum (CC) abnormalities, and seizures. Here we provide additional evidence for haploinsufficiency or dysfunction of the ZBTB18 gene as the cause of ID in five unrelated patients with variable syndromic features who underwent whole exome sequencing revealing separate de novo pathogenic or likely pathogenic variants in ZBTB18 (two missense alterations and three truncating alterations). The neuroimaging findings in our cohort (CC hypoplasia seen in 4/4 of our patients who underwent MRI) lend further support for ZBTB18 as a critical gene for CC abnormalities. A similar phenotype of microcephaly, CC agenesis, and cerebellar vermis hypoplasia has been reported in mice with central nervous system‐specific knockout of Zbtb18. Our five patients, in addition to the previously described cases of de novo ZBTB18 variants, add to knowledge about the phenotypic spectrum associated with ZBTB18 haploinsufficiency/dysfunction.
Abstract Osteoclast activity was studied on nacre, the mother of pearl (MOP) in order to assess the plasticity of bone resorbing cells and their capacity to adapt to a biomineralized material with a ...different organic and mineral composition from that of its natural substrate, bone. Pure MOP, a natural biomineralized CaCO3 material, was obtained from Pinctada oyster shell. When implanted in the living system, nacre has proven to be a sustainable bone grafting material although a limited surface degradation process. Osteoclast stem cells and mature osteoclasts were cultured on MOP substrate and osteoclast precursor cells were shown to differentiate into osteoclasts capable of resorbing nacre substrate. However, analysis of the organization of the cytoskeleton showed that both a sealing zone and a podosome structure were observed on the nacre substrate. Moreover, MOP resorption efficiency was consistently found to be lower than that of bone and appeared to be a limited process.
In a 16-year-old girl with intellectual disability, irregular teeth, slight body asymmetry, and striated skin pigmentation, highly skewed X-inactivation increased the likelihood of an X-linked cause ...of her condition. Among these, prominent supraorbital ridges and hearing loss suggested a filaminopathy, but no filamin A mutation was found. The correct diagnosis, Borjeson-Forssman-Lehmann syndrome (BFLS, MIM#301900), was first made when a copy number array identified a de novo 15-kb deletion of the terminal 3 exons of the PHF6 gene. In retrospect, her phenotype resembled that of males with BFLS. Such deletions of PHF6 have not been reported previously. This might be because PHF6 mutations are rarely looked for in females since classical BFLS so far has been thought to be a male-specific syndrome, and large PHF6 deletions might be incompatible with male fetal survival. If this is the case, sporadic BFLS could be more frequent in females than in males.
The ammonia selectivity during the cycling NOx storage reduction process over a model Pt/Ba/Al₂O₃ catalyst was studied. Firstly, it was demonstrated that, whereas the presence of water or carbon ...dioxide in the gas mixture have a negative effect on the storage step, the effect of these components have different impacts on the NOx efficiency. Due to their involvement in the reverse water gas shift (RWGS) reaction, the absence of water in the gas mixture leads to a drop of the NOx removal whereas without CO₂, an increase of the NOx conversion is observed. It was also showed that the reducer (H₂) conversion during the short excursion in rich condition is directly correlated to the NH₃ emission. NH₃ is emitted since hydrogen is not fully converted, whatever the NOx conversion rate. The ammonia pathway is clearly demonstrated and it was claim that, when H₂ remains in the reaction mixture, the ammonia production rate is higher than the ammonia reaction with the remaining NOx in order to form N₂.
We have investigated the interface between bone and chronic implants of nacre in sheep. There was no foreign body reaction over the period of 10 months and the implants were not broken down. Light ...microscopy indicated activity within an osteoprogenitor cellular layer lining the implant, resulting in a complete sequence of new bone formation. Nacre appeared to bind directly to newly formed bone without any intervening fibrous tissue. Scanning electron microscopy and energy dispersive photon X-microanalysis showed calcium and phosphate ions lining the nacre within the osteoprogenitor tissue. These studies show a dynamic activity of the bone/nacre interface, leading to continuity between the nacre and the bone.
There is frequently a loss of vertebral bone due to disease or aging. Nacre (mother of pearl from the oyster
Pinctada maxima) stimulates bone cell differentiation and bone formation in vitro and in ...vivo. Experimental bone defects were prepared in the vertebrae of sheep and used to test the suitability of nacre as an injectable osteogenic biomaterial for treating vertebral bone loss. Twenty-one cavities were prepared in the first four upper lumbar vertebrae of 11 sheep and filled with nacre powder. The lumbar vertebrae were removed after 1 to 12 weeks, embedded undecalcified in methacrylate, and processed for histological studies. The nacre slowly dissolved and the experimental cavities contained a large active cell population. By 12 weeks, the experimental cavity was occupied by newly matured bone trabeculae in contact with or adjacent to the dissolving nacre. The functional new bone trabeculae were covered with osteoid lined with osteoblasts, indicating continuing bone formation. The in vitro study on rat bone marrow explants cultured with a water-soluble extract of the nacre organic matrix also resulted in the stimulation of osteogenic bone marrow cells with enhanced alkaline phosphatase activity. Thus, both the in vivo and in vitro findings suggest that nacre contains one or more signal molecules capable of activating osteogenic bone marrow cells.
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