3,050 research outputs found
Germline mutations of the STK11 gene in Korean PeutzâJeghers syndrome patients
PeutzâJeghers syndrome (PJS) is an autosomal dominantly inherited disease characterized by hamartomatous gastrointestinal polyps and mucocutaneous pigmentation, with an increased risk for various neoplasms, including gastrointestinal cancer. Recently, the PJS gene encoding the serine/threonine kinase STK11 (also named LKB1) was mapped to chromosome 19p13.3, and germline mutations were identified in PJS patients. We screened a total of ten Korean PJS patients (nine sporadic cases and one familial case including two patients) to investigate the germline mutations of the STK11 gene. By polymerase chain reactionâsingle-strand conformation polymorphism and DNA sequencing analysis, three kinds of mis-sense mutation and a frame-shift mutation were identified: codon 232 (TCC to CCC) in exon 5, codon 256 (GAA to GCA) in exon 6, codon 324 (CCG to CTG) in exon 8, and a guanine insertion at codon 342 resulting in a premature stop codon in exon 8. These mis-sense variants were not detected in 100 control DNA samples. Furthermore, we found an intronic mutation at the dinucleotide sequence of a splice-acceptor site: a one base substitution from AG to CG in intron 1, which may cause aberrant splicing. Most reported germline mutations of the STK11 gene in PJS patients were frame-shift or non-sense mutations resulting in truncated proteins. Together, these findings indicate that germline mis-sense mutations of the STK11 gene are found in PJS patients in addition to truncating mutations. The effects of these mutations on protein function require further examination. In summary, we found germline mutations of the STK11 gene in five out of ten Korean PJS patients. © 2000 Cancer Research Campaig
Differential Maternal Feeding Practices, Eating Self-Regulation, and Adiposity in Young Twins
Restrictive feeding is associated with childhood obesity; however, this could be due to other factors that drive children to overeat and parents to restrict (eg, child genetics). Using a twin design to better control for confounders, we tested differences in restrictive feeding within families in relation to differences in twinsâ self-regulatory eating and weight status
Band gap opening by two-dimensional manifestation of Peierls instability in graphene
Using first-principles calculations of graphene having high-symmetry
distortion or defects, we investigate band gap opening by chiral symmetry
breaking, or intervalley mixing, in graphene and show an intuitive picture of
understanding the gap opening in terms of local bonding and antibonding
hybridizations. We identify that the gap opening by chiral symmetry breaking in
honeycomb lattices is an ideal two-dimensional (2D) extension of the Peierls
metal-insulator transition in 1D linear lattices. We show that the spontaneous
Kekule distortion, a 2D version of the Peierls distortion, takes place in
biaxially strained graphene, leading to structural failure. We also show that
the gap opening in graphene antidots and armchair nanoribbons, which has been
attributed usually to quantum confinement effects, can be understood with the
chiral symmetry breaking
Spectrum of confining strings in SU(N) gauge theories
We study the spectrum of the confining strings in four-dimensional SU(N)
gauge theories. We compute, for the SU(4) and SU(6) gauge theories formulated
on a lattice, the string tensions sigma_k related to sources with Z_N charge k,
using Monte Carlo simulations. Our results are consistent with the sine formula
sigma_k/sigma = sin k pi/N / sin pi/N for the ratio between sigma_k and the
standard string tension sigma.
For the SU(4) and SU(6) cases the accuracy is approximately 1% and 2%,
respectively. The sine formula is known to emerge in various realizations of
supersymmetric SU(N) gauge theories. On the other hand, our results show
deviations from Casimir scaling. We also discuss an analogous behavior
exhibited by two-dimensional SU(N) x SU(N) chiral models.Comment: Latex, 34 pages, 10 figures. Results of new SU(4) simulations added.
The new data are included in the analysis, leading to improved final
estimates for SU(4). Conclusions unchange
Investigation of MC1R SNPs and Their Relationships with Plumage Colors in Korean Native Chicken
The melanocortin 1 receptor (MC1R) gene is related to the plumage color variations in chicken. Initially, the MC1R gene from 30 individuals was sequenced and nine polymorphisms were obtained. Of these, three and six single nucleotide polymorphisms (SNPs) were confirmed as synonymous and nonsynonymous mutations, respectively. Among these, three selected SNPs were genotyped using the restriction fragment length polymorphism (RFLP) method in 150 individuals from five chicken breeds, which identified the plumage color responding alleles. The neighbor-joining phylogenetic tree using MC1R gene sequences indicated three well-differentiated different plumage pigmentations (eumelanin, pheomelanin and albino). Also, the genotype analyses indicated that the TT, AA and GG genotypes corresponded to the eumelanin, pheomelanin and albino plumage pigmentations at nucleotide positions 69, 376 and 427, respectively. In contrast, high allele frequencies with T, A and G alleles corresponded to black, red/yellow and white plumage color in 69, 376 and 427 nucleotide positions, respectively. Also, amino acids changes at position Asn23Asn, Val126Ile and Thr143Ala were observed in melanin synthesis with identified possible alleles, respectively. In addition, high haplotype frequencies in TGA, CGG and CAA haplotypes were well discriminated based on the plumage pigmentation in chicken breeds. The results obtained in this study can be used for designing proper breeding and conservation strategies for the Korean native chicken breeds, as well as for the developing breed identification markers in chicken
Growth Performance, Carcass Yield, and Quality and Chemical Traits of Meat from Commercial Korean Native Ducks with 2-Way Crossbreeding
This work was conducted to investigate the performance and meat characteristics of commercial Korean native duck (KND). A total of 180 1-d-old ducklings of 2-way crossbreds from A and B lines (from National Institute of Animal Science) were used in this work and divided into 4 groups (3 replicates/group, 15 birds/replicate). The four groups were 4 crossbreds as AA (A line [â]ĂA line [â]), AB (A line [â]ĂB line [â]), BB (Pure line B strains) and BA (B strains [â]ĂA strain [â]). Ducks were fed diets based on corn-soybean meal for 0 to 3 wk (22.4% crude protein [CP], 2,945 kcal/kg metabolizable energy [ME]) and 3 to 8 wk (18.4% CP, 3,047 kcal/kg ME). As a result of this study, average body weight of 4 crossbreds were 625, 1,617, 2,466, and 2,836 g at 2, 4, 6, and 8 weeks, respectively, and significantly increased over the period of time (p<0.05). Body weight of BB group was greater than other crossbreds at the age of 6 weeks (p<0.05). There was a significant difference in weekly body weight gains (p<0.05), which were 573, 991, 850, and 371 g at 2, 4, 6, and 8 weeks old, respectively. Uniformity of 4 crossbreds was 84.9%, 80.5%, and 72.5% at 6, 7, and 8 weeks, respectively, and there was no difference among crossbreds. Body weight gain of BB crossbred was highest among crossbreds (p<0.05). Weekly feed intake significantly increased with weeks as 669, 1,839, 2,812, and 3,381 g at 2, 4, 6, and 8 weeks respectively (p<0.05). Feed intakes of AA and BB crossbreds were higher at 2 to 4 weeks old than others and that of BB crossbred was highest at 4 to 6 weeks old (p<0.05). Weekly feed conversion ratios were 1.17, 1.86, 3.32, and 9.37 at 0 to 2, 2 to 4, 4 to 6, and 6 to 8 weeks old, respectively, and it increased with age (p<0.05). There was no significant difference in feed conversion ratio among crossbreds. Carcass yields of 4 crossbreds were 73.6%, 71.6%, 73.5%, and 71.7%, respectively, so there was no significant difference among crossbreds. There was no difference in wing, neck, breast and leg ratios among crossbreds. However, back ratios of 4 crossbreds were 17.6%, 18.0%, 15.8%, and 17.6%, respectively, and back ratio of BB was the highest among crossbreds. Finally, these results may provide the basic data on the production, carcass quality, fatty acid and amino acid composition of commercial KND with 2-way crossbreeding
Atomistic origins of high-performance in hybrid halide perovskite solar cells
The performance of organometallic perovskite solar cells has rapidly
surpassed that of both conventional dye-sensitised and organic photovoltaics.
High power conversion efficiency can be realised in both mesoporous and
thin-film device architectures. We address the origin of this success in the
context of the materials chemistry and physics of the bulk perovskite as
described by electronic structure calculations. In addition to the basic
optoelectronic properties essential for an efficient photovoltaic device
(spectrally suitable band gap, high optical absorption, low carrier effective
masses), the materials are structurally and compositionally flexible. As we
show, hybrid perovskites exhibit spontaneous electric polarisation; we also
suggest ways in which this can be tuned through judicious choice of the organic
cation. The presence of ferroelectric domains will result in internal junctions
that may aid separation of photoexcited electron and hole pairs, and reduction
of recombination through segregation of charge carriers. The combination of
high dielectric constant and low effective mass promotes both Wannier-Mott
exciton separation and effective ionisation of donor and acceptor defects. The
photoferroic effect could be exploited in nanostructured films to generate a
higher open circuit voltage and may contribute to the current-voltage
hysteresis observed in perovskite solar cells.Comment: 6 pages, 5 figure
Antimony-Doped Tin(II) Sulfide Thin Films
Thin-film solar cells made from earth-abundant, inexpensive, and nontoxic materials are needed to replace the current technologies whose widespread use is limited by their use of scarce, costly, and toxic elements. Tin monosulfide (SnS) is a promising candidate for making absorber layers in scalable, inexpensive, and nontoxic solar cells. SnS has always been observed to be a p-type semiconductor. Doping SnS to form an n-type semiconductor would permit the construction of solar cells with p-n homojunctions. This paper reports doping SnS films with antimony, a potential n-type dopant. Small amounts of antimony (1%) were found to greatly increase the electrical resistance of the SnS. The resulting intrinsic SnS(Sb) films could be used for the insulating layer in a p-i-n design for solar cells. Higher concentrations (5%) of antimony did not convert the SnS(Sb) to low-resistivity n-type conductivity, but instead the films retain such a high resistance that the conductivity type could not be determined. Extended X-ray absorption fine structure analysis reveals that the highly doped films contain precipitates of a secondary phase that has chemical bonds characteristic of metallic antimony, rather than the antimonyâsulfur bonds found in films with lower concentrations of antimony.United States. Dept. of Energy. Sunshot Initiative (Contract DE-EE0005329)National Science Foundation (U.S.) (Grant CBET-1032955
Native-English-Speaking Teachers:Disconnections Between Theory, Research, and Practice
Native-English-speaking teachers (NESTs) have long been in demand for perceived benefits of the skills they bring to the classroom. However, the notion that native speakers provide the best models of the target language and thus make the best teachers of the language has been criticised in the literature. This article reports on the disconnection between academic literature on NESTs and the realities they report. Drawing on data from an investigation into NEST schemes globally, the article suggests that lived classroom experiences of NESTs are complex, They are also often bilingual, experienced, and qualified, and regard local English teachers (LETs) they work with as experts and in control of how English is practised in the classroom. These characteristics contrast with much of the academic literature, which explores the concept of native speakerism, which tends to view NESTs negatively. The article proposes that one reason for the disconnection between theory and practice is the parallel lives of researchers and teachers, whether NESTs or LETs. Thus, each groupâs realities and concerns are not always understood by the other. The article suggests that a substantial group of bilingual and bicultural NESTs consider the country where work home, so future theorisations of NESTs and native speakerism should take account of these teachers
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