Medical case reports

Epigenetic defects (gain or loss of DNA methylation) of the human ICR1 11p15 domain result in two opposite foetal growth disorders (BWS and SRS) depending on which parental allele is affected. A few deletions within ICR1 have been reported in familial BWS cases with ICR1 gain of methylation, however the mechanism(s) of the DNA methylation defects at ICR1 remains largely unknown in most BWS and SRS patients.

83p runthenight07 01-03-2023 9 3   Download

The study acknowledges some limitations such as a conclusion section as well as the order of the moves is still neglected. In addition, there is a lack of the MCRs written in English by Vietnamese authors. Despite these limitations, the study is hoped to provide some pedagogical implications for teaching writing in Vietnamese settings to encourage student to be aware of the moves when writing a MCR.

30p kethamoi2 14-12-2019 35 2   Download

The uptake by mammalian cells of phosphorothioate oli-gonucleotides was compared with that of their respective complexes or conjugates with cationic, cell-penetrating model peptides of varying helix-forming propensity and amphipathicity. An HPLC-based protocol for the synthesis and purification of disulfide bridged conjugates in the 10– 100 nmol range was developed. Confocal laser scanning microscopy (CLSM) in combination with gel-capillary electrophoresis and laser induced fluorescence detection (GCE-LIF) revealed cytoplasmic and nuclear accumula-tion in all cases. ...

8p research12 23-04-2013 46 2   Download

Exposure of mammalian cells to oxidant stress causes early (iron catalysed) lysosomal rupture followed by apoptosis or necrosis. Enhanced intracellular production of reactive oxygen species (ROS), presumably of mitochondrial origin, is also observed when cells are exposed to nonoxidant pro-apoptotic agonists of cell death. We hypothesized that ROS generation in this latter case might promote the apoptotic cascade and could arise from effects of released lysosomal materials on mitochondria.

9p tumor12 20-04-2013 30 1   Download

Site-directedmutagenesis was used to investigate the control of 2-oxoacid cosubstrate selectivity by deacetoxycephalo-sporin C synthase. The wild-type enzyme has a requirement for 2-oxoglutarate and cannot efficiently use hydrophobic 2-oxoacids (e.g. 2-oxohexanoic acid, 2-oxo-4-methyl-penta-noic acid) as the cosubstrate. The followingmutant enzymes were produced: R258A, R258L, R258F, R258H and R258K. All of the mutants have broadened cosubstrate selectivity and were able to utilize hydrophobic 2-oxoacids.

7p tumor12 20-04-2013 42 3   Download

Abdominal-B(Abd-B) is a complex homeotic gene with a difficult task: one transcript determines the identity of four different abdominal segments throughout development in Drosophila.

7p fptmusic 11-04-2013 38 2   Download

Lack of functional Fragile X mental retardation protein (FMRP) is the pri-mary cause of the Fragile-mental retardation syndrome in humans. In most cases, the disease results from transcriptional silencing of fragile mental retardation gene 1, fmr1, which encodes FMRP. However, a single mis-sense mutation (I304N) in the second KH domain of FMRP gives rise to a particularly severe case of Fragile X syndrome.

0p awards 05-04-2013 37 1   Download

Inorder to clarify the role of cytochrome innitrate reductase we have performed spectrophotometric and stopped-flow kinetic studies of reduction and oxidation of the cytochrome hemes with analogues of physiological quinones, using menadione as an analogue of menaquinone and duro-quinone as an analogue of ubiquinone, and comparing the results with those obtained with dithionite. The spectropho-tometric studies indicate that reduction of the cytochrome hemes varies according to the analogue of quinoneused, and in no cases is it complete....

8p dell39 03-04-2013 53 3   Download

Mitochondrialb-oxidation is a complex pathway involving, in the case of saturated straight chain fatty acids of even carbonnumber, at least 16proteinswhichare organized into two functional subdomains; one associated with the inner face of the inner mitochondrial membrane and the other in the matrix. Overall, the pathway is subject to intramito-chondrial control at multiple sites. However, at least in the liver, carnitine palmitoyl transferase I exerts approximately 80% of control over pathway flux under normal conditions....

8p dell39 03-04-2013 40 2   Download

When molecules are present in small numbers, such as is frequently the case in cells, the usual assumptions leading to differential rate equations are invalid and it is necessary to use a stochastic description which takes into account the randomness of reactive encounters in solution.

12p dell39 27-03-2013 33 2   Download

The interaction of proteinase inhibitors produced, in most cases, by host organisms and the invasive proteinases of pathogens or parasites or the dietary proteinases of predators, results in an evolutionary ‘arms race’ of rapid and ongoing change in both interacting proteins.

13p dell39 27-03-2013 43 4   Download

Deciphering the laws that govern metabolic responses of complex systems is essential to understand physiological functioning, pathological conditions and the outcome of experimental manipulations of intact cells. To this aim, a theoretical and experimental sensitivity analysis, called modular meta-bolic control analysis (MMCA), was proposed.

14p inspiron33 23-03-2013 48 3   Download

Coagulation factor XI (FXI) is the zymogen of a serine protease that, when converted to its active form, contributes to blood coagulation through proteolytic activation of factor IX. FXI deficiency is typically an autosomal recessive disorder, characterized by bleeding symptoms mainly associated with injury or surgery.

11p media19 05-03-2013 32 3   Download

RepA, the replication initiator protein from thePseudomonasplasmid pPS10, regulates plasmid replication and copy number. It is capable of autorepression, in which case it binds as a dimer to the inverted repeat oper-ator sequence preceding its own gene.

15p vinaphone15 28-02-2013 36 1   Download

As many as fifty proteins have now been experimentally demonstrated to be targeted to both mitochondria and plastids, a phenomenon referred to as dual targeting. Although the first reported case of dual targeting of a protein was reported in 1995, there is still little understanding of the mech-anism of dual targeting and any similarities or differences with respect to the targeting of location-specific proteins.

9p vinaphone15 27-02-2013 36 3   Download

Much of enzyme kinetics builds on simplifications enabled by the quasi-steady-state approximation and is highly useful when the concentration of the enzyme is much lower than that of its substrate. However, in vivo, this condition is often violated. In the present study, we show that, under con-ditions of realistic yet high enzyme concentrations, the quasi-steady-state approximation may readily be off by more than a factor of four when pre-dicting concentrations.

16p viettel02 20-02-2013 31 2   Download

Enterohemorrhagic and enteropathogenicEscherichia coliproduce various effector proteins that are directly injected into the host-cell cytosol through the type III secretion system. E. colisecreted protein (Esp)B is one such effector protein, and affects host-cell morphology by reorganizing actin net-works.

7p mobifone23 21-01-2013 36 3   Download

Cerebral cavernous malformations (CCM) are vascular lesions which can occur as a sporadic (80% of the cases) or familial autosomal dominant form (20%). Three CCM genes have been identified: CCM1⁄KRIT1, CCM2⁄MGC4607and CCM3⁄PDCD10. Almost 80% of CCM patients affected with a genetic form of the disease harbor a heterozygous germline mutation in one of these three genes.

6p mobifone23 18-01-2013 33 4   Download

We previously reported the use of a humanized bi-specific diabody that targets epidermal growth factor receptor and CD3 (hEx3-Db) for cancer immunotherapy. Bacterial expression can be used to express small recombi-nant antibodies on a large scale; however, their overexpression often results in the formation of insoluble aggregates, and in most cases artificial affinity peptide tags need to be fused to the antibodies for purification by affinity chromatography.

11p mobifone23 18-01-2013 42 3   Download

We report unambiguous proof of the stability of a carbinol intermediate in the case of P450 metabolism of an N-methylated natural cyclo-peptide, namely tentoxin. Under mild acidic or neutral conditions, the lifetime of carbinol-amide is long enough to be fully characterized.

12p cosis54 05-01-2013 37 3   Download