bluuebunny/crossref_metadata_2025_split huggingface dataset:
Systematic Review: Sweet Syndrome Associated with Inflammatory Bowel Disease
Authors: Sleiman Joseph , Hitawala Asif A , Cohen Benjamin , Falloon Katie , Simonson Marian , Click Benjamin , Khanna Urmi , Fernandez Anthony P , Rieder Florian 
Published: April 2021

AbstractBackground and AimsSweet syndrome [SS] is a dermatological condition associated with both inflammatory bowel disease [IBD] and azathioprine use. We performed a systematic review to better delineate clinical characteristics and outcomes of SS in IBD patients.MethodsPeer-reviewed, full-text journal publications from inception to April 2020 in English language and adult subjects with IBD were included. Skin biopsy was required as SS gold-standard diagnosis. Azathioprine-associated SS required recent azathioprine introduction or recurrence of SS after azathioprine re-challenge.ResultsWe included 89 publications with 95 patients [mean age of SS diagnosis: 44 years; 59% female; 20 with azathioprine-associated SS and 75 without]. SS was diagnosed prior to IBD in 5.3%, at time of IBD diagnosis in 29.5% and after diagnosis in 64.2%. In total, 91% of patients with SS had known colonic involvement and the majority [76%] had active IBD at diagnosis; 22% had additional extra-intestinal manifestations. Successful therapies for SS included corticosteroids [90.5%], anti-tumour necrosis factor [TNF]-α inhibitor therapy [14.8%] and azathioprine [11.6%]. Azathioprine-associated SS was distinct, with 85% male patients, mean age of SS diagnosis of 50 years and a lower likelihood to be prescribed corticosteroids for treatment [75% vs 94.7% of non-azathioprine-associated SS, p = 0.008]. All patients with azathioprine-associated SS improved with medication cessation and developed recurrence after re-challenge.ConclusionsSS may precede or occur with IBD diagnosis in almost one-third of cases. Azathioprine and IBD-associated SS present and behave distinctly, especially with regard to gender, age at diagnosis and recurrence risk. Corticosteroids and TNF-α inhibitors have demonstrated efficacy in treating SS in IBD.
Cluster analysis of emphysema for predicting pulmonary complications after thoracoscopic lobectomy
Authors: Tane Shinya , Nishikubo Megumi , Kitazume Mai , Fujibayashi Yusuke , Kimura Kenji , Kitamura Yoshitaka , Takenaka Daisuke , Nishio Wataru 
Published: April 2021

Abstract

OBJECTIVES
Despite significant advances in surgical techniques, including thoracoscopic approaches and perioperative care, the morbidity rate remains high after lung resection. This study focused on a low attenuation cluster analysis, which represented the size distribution of pulmonary emphysema and assessed its utility for predicting postoperative pulmonary complications after thoracoscopic lobectomy.

METHODS
From April 2013 to September 2018, lung cancer patients who received spirometry and computed tomography (CT) before surgery and underwent thoracoscopic lobectomy were included. The cumulative size distribution of the low attenuation area (LAA, defined as ≤−950 Hounsfield unit on CT) clusters followed a power-law characterized by an exponent D-value, a measure of the complexity of the alveolar structure. D-value and LAA% (LAA/total lung volume) were calculated using preoperative 3-dimensional CT software. The relationship between pulmonary complications and patient characteristics, including D-value and LAA%, was investigated.

RESULTS
Among 471 patients, there were 61 respiratory complication cases (12.9%). Receiver operation characteristic curve analysis revealed that the best predictive cut-off value of D-value and LAA% for pulmonary complications was 2.27 and 16.5, respectively, with an area under the curve of 0.72 and 0.58, respectively. D-value was significantly correlated with % forced expiratory volume in 1 s. Per univariate analysis, gender, smoking history, forced expiratory volume in 1 s/forced vital capacity, LAA% and D-value were risk factors for predicting postoperative pulmonary complications. In the multivariate analysis, D-value remained a significant predictive factor.

CONCLUSION
Preoperative assessment of emphysema cluster analysis may represent the vulnerability of the operated lung and could be the novel predictor for pulmonary complications after thoracoscopic lobectomy.
Alliance Embeddedness: Rodrigo Duterte and the Resilience of the US–Philippine Alliance
Authors: Winger Gregory 
Published: April 2021

AbstractIn 2016, Philippine President Rodrigo Duterte pledged to radically reorient Philippine foreign policy by separating from Manila's longtime ally the United States. Yet, this vaunted break with America has failed to manifest. Joint US–Philippine military activities have continued with President Duterte even singing the praises of his American partners. To understand how this about-face in Manila occurred, I conducted a detailed analysis of the first eighteen months of the Duterte administration. Drawing on primary sources and interviews with government officials from both countries, I argue that the continued vitality of the US–Philippine alliance stems not from disenchantment with China nor personal relationship between Duterte and Trump, but rather from an underlying institutional affinity engendered over decades of defense cooperation. Specifically, institutionalized cooperation within the alliance has cultivated a strong reservoir of support for the alliance within key institutions inside the Philippine government. This case not only highlights the development of the Duterte administration but also illustrates the wider ability of alliances to weather political discord by cultivating support within national bureaucracies.
PREFERENTIAL MATING IN SYMMETRIC MULTILOCUS SYSTEMS: STABILITY CONDITIONS OF THE CENTRAL EQUILIBRIUM
Authors: Karlin S , Raper J 
Published: April 2021

ABSTRACT
Several multilocus models that incorporate both preferential mating and viability selection are studied. Specifically, a class of symmetric heterozygosity models are considered that assign individuals to phenotypic classes according to which loci are in heterozygous state regardless of the actual allelic content. Otherwise, an arbitrary number of loci, number of alleles per locus, and arbitrary recombination scheme, viability parameters and preferential mating pattern based on phenotypes are allowed. The conditions for the stability of a central polymorphism are indicated and interpreted. The effects of viability and preference selection may be summarized in a single quantity for each phenotypic class, a generalized fitness. Preferential assortative mating alone can produce stability for a central polymorphism as in the case of viability selection when sexual attractiveness or general fitness increases with higher levels of heterozygosity. The situation is more complex with sexual selection.
"ALTERNATE-2" DISJUNCTION DOES NOT EXIST
Authors: Boussy Ian A 
Published: April 2021

ABSTRACT
John and Lewis (1965) proposed a model of disjunction of translocation heterozygotes that defined two types of alternate disjunction, alternate-1 and alternate-2, differing from the classic view of only one type. Endrizzi (1974), and subsequent workers citing him, claim to have observed two distinct alternate disjunction configurations, corresponding to John and Lewis's alternate—1 and alternate—2 types, in meiotic preparations of several species. These observations are based on a two-dimensional interpretation of the three-dimensional phenomenon of disjunction, and are erroneous. In each case the two supposed types are topologically identical. There is only one possible alternate disjunction configuration.
DETERMINATION OF THE ORDER OF GENE FUNCTION IN THE YEAST NUCLEAR DIVISION PATHWAY USING cs AND ts MUTANTS
Authors: Moir Don , Botstein David 
Published: April 2021

ABSTRACT
Cold-sensitive (cs) and heat-sensitive (ts) conditional-lethal mutations that affect specifically the cell division cycle of budding yeast (Saccharomyces cerevisiae) were used to determine the order of gene function. Reciprocal temperature-shift experiments using cs-ts double mutants revealed a detailed order of function among genes whose execution points and mutant phenotypes are very similar. The data suggest that the nuclear branch of the overall cell-cycle pathway itself contains at least one branch.
FRAMESHIFT SUPPRESSION IN SACCHAROMYCES CEREVISIAE. IV. NEW SUPPRESSORS AMONG SPONTANEOUS CO-REVERTANTS OF THE GROUP II HIS4-206 AND LEU2-3 FRAMESHIFT MUTATIONS
Authors: Gaber Richard F , Culbertson Michael R 
Published: April 2021

ABSTRACT
ICR-induced frameshift mutations at the his4 locus in Saccharomyces cerevisiae have been classified into several groups on the basis of their reversion and suppression properties. One group of externally suppressible his4 mutations, designated Group II, have been shown to contain +1 G:C insertions in glycine codons and are suppressed by any one of five suppressor mutations described previously (SUFI, SUF3, SUF4, SUF5, and SUP6). The suppressor genes are believed to encode glycine tRNAs containing four base anticodons. —-An analysis of spontaneous co-revertants of the Group II frameshift mutations his4-206 and leu2-3 has revealed the existence of eleven new Group II-specific suppressor genes (SUF15 through SlJF25). The locations of the new suppressor loci on the yeast genetic map have been determined. —-By comparing the ability or inability of Group II-specific suppressors mapping at 16 different loci to suppress different Group II his4 mutations, two subclasses of suppressors have been defined. One subclass suppresses his4-38 and his4-519, which contain the altered four base mRNA codons 5'-GGGU-3' and 5'-GGGG-3', respectively. The other subclass suppresses his4-38, but fails to suppress his4-519. The mechanism of tRNAmediated frameshift suppression and the molecular basis for this division of the suppressors into two subclasses is discussed.
Cytogenetic analysis of segregation distortion in Drosophila melanogaster: the cytological organization of the Responder (Rsp) locus.
Authors: Pimpinelli S , Dimitri P 
Published: April 2021

Abstract
The segregation distortion phenomenon occurs in Drosophila melanogaster males carrying an SD second chromosome and an SD+ homolog. In such males the SD chromosome is transmitted to the progeny more frequently than the expected 50% because of an abnormal differentiation of the SD+-bearing sperms. Three major loci are involved in this phenomenon: SD and Rsp, associated with the SD and SD+ chromosome, respectively, and E(SD). In the present work we performed a cytogenetic analysis of the Rsp locus which was known to map to the centromeric heterochromatin of the second chromosome. Hoechst- and N-banding techniques were used to characterize chromosomes carrying Responder insensitive (Rspi), Responder sensitive (Rsps) and Responder supersensitive (Rspss) alleles. Our results locate the Rsp locus to the h39 region of 2R heterochromatin. This region is a Hoechst-bright, N-banding negative heterochromatic block adjacent to the centromere. Quantitative variations of the h39 region were observed. The degree of sensitivity to Sd was found to be directly correlated with the physical size of that region, demonstrating that the Rsp locus is composed of repeated DNA.
Insertion of a copia element 5' to the Drosophila melanogaster alcohol dehydrogenase gene (adh) is associated with altered developmental and tissue-specific patterns of expression.
Authors: Strand D J , McDonald J F 
Published: April 2021

Abstract
The Drosophila melanogaster alcohol dehydrogenase gene (adh) is under the control of two separate promoters (proximal and distal) which are preferentially utilized at the larval and adult life stages, respectively. A variant alcohol dehydrogenase allele (RI-42) isolated from a natural population contains a copia retroviral-like transposable element inserted 240 bp upstream from the distal (adult) adh transcriptional start site. Levels of adh transcripts in the RI-42 variant are reduced in tissues and at life stages where copia is actively expressed and are affected in trans- by mutant alleles at the suppressor-of-white-apricot (su(wa] and suppressor-of-forked (su(f] loci. These suppressor genes have no effect on adh expression in wild-type Drosophila.
Linkage disequilibrium and genetic variances under mutation-selection balance.
Authors: Hastings A 
Published: April 2021

Abstract
I determine the contribution of linkage disequilibrium to genetic variances using results for two loci and for induced or marginal systems. The analysis allows epistasis and dominance, but assumes that mutation is weak relative to selection. The linkage disequilibrium component of genetic variance is shown to be unimportant for unlinked loci if the gametic mutation rate divided by the harmonic mean of the pairwise recombination rates is much less than one. For tightly linked loci, linkage disequilibrium is unimportant if the gametic mutation rate divided by the (induced) per locus selection is much less than one.
Models of quantitative variation of flux in metabolic pathways.
Authors: Keightley P D 
Published: April 2021

Abstract
As a model of variation in a quantitative character, enzyme activity variation segregating in a population is assumed to affect the flux in simple metabolic pathways. The genetic variation of flux is partitioned into additive and nonadditive components. An interaction component of flux variance is present because the effect of an allelic substitution is modified by other substitutions which change the concentrations of shared metabolites. In a haploid population, the the proportion of interaction variance is a function of the gene frequencies at the loci contributing to the flux variation, enzyme activities of mutant and wild type at variable loci and activities at nonvariable loci. The proportion of interaction variance is inversely related to the ratio of mutant to wild-type activities at the loci controlling the enzyme activities. The interaction component as a function of gene frequencies is at a maximum with high mutant allele frequencies. In contrast, the dominance component which would apply to a diploid population is maximal as a proportion of the total when mutant alleles are at low frequencies. Unless there are many loci with large differences in activity between the alleles, the interaction component is a small proportion of the total variance. Data on enzyme activity variation from natural and artificial populations suggest that such variation generates little nonadditive variance despite the highly interactive nature of the underlying biochemical system.
Physical analysis of spontaneous and mutagen-induced mutants of Escherichia coli K-12 expressing DNA exonuclease VIII activity.
Authors: Mahajan S K , Chu C C , Willis D K , Templin A , Clark A J 
Published: April 2021

Abstract
We have mapped the extents of two deletion sbcA mutations which result in production of DNA exonuclease VIII (ExoVIII). One mutation, sbcA8, deletes about 140 kb of DNA which includes most of the Rac prophage and the trg gene. Western blot analysis shows that the protein produced is larger than wild type ExoVIII. The nucleotide sequence shows that a translational gene fusion has occurred. The N-terminal 294 codons of recE have been deleted and the remaining C-terminal codons have been fused to the N-terminal portion of another reading frame we call sfcA. Analysis of the protein sequence encoded by sfcA shows an 83% similarity with rat and mouse NADP-linked malic enzyme. We discuss the possibility that sfcA is identical to maeA which encodes NAD-linked malic enzyme from Escherichia coli. Restriction nuclease analysis of a second deletion, sbcA81, by Southern blot technique indicates that about 105 kb of DNA have been deleted and a transcriptional gene fusion has occurred between recE and the regulatory region of an E. coli chromosomal gene. We also examined eight other sbc mutations that result in ExoVIII production. Five have no effect on restriction nucleotide fragment sizes detected by complementarity to lambda rev as probe. These are presumed point mutations. Three seem to produce additional restriction nucleotide fragments complementary to lambda rev. The possible nature of these sbc mutations is discussed.
Transvection in the Ultrabithorax domain of the bithorax complex of Drosophila melanogaster.
Authors: Mathog D 
Published: April 2021

Abstract
The phenotypes of several heterozygous combinations of mutations which map within the Ultrabithorax gene of Drosophila melanogaster are modulated by the extent of somatic homologous chromosome pairing, an effect known as transvection. One can discriminate between otherwise phenotypically similar mutations via their transvection behavior. This suggested the existence of previously undetected intragenic functional units. A collection of mutations has been classified into "transvection groups" (in analogy to complementation groups) on the basis of transvection tests with bithorax34e, postbithorax2, and Contrabithorax1 Ultrabithorax1. The conditions necessary for each transvection effect were determined from these transvection groups. The bithorax34e mutation only transvects with Ultrabithorax mutations with a contiguous Ultrabithorax transcriptional unit. In contrast, postbithorax2 transvection requires the distal part of the bithoraxoid region. As expected, Ultrabithorax mutations do not transvect with Contrabithorax1 Ultrabithorax1. However, it appears that this cross activation is not mediated solely through one of the known regulatory regions as mutations in these regions do not consistently block the response.
Molecular and phenotypic variation of the Zw locus region in Drosophila melanogaster.
Authors: Miyashita N T 
Published: April 2021

Abstract
Restriction map polymorphism in a 13-kb region of the Zw locus in Drosophila melanogaster was investigated for 64 X chromosome lines with seven 6-cutter and ten 4-cutter restriction enzymes. A total of 203 restriction sites were scored, of which 20 were found to be polymorphic. The estimated nucleotide variation for this region for overall data (pi = 0.003 and 0.001, and theta = 0.003 and 0.002, for 4-cutter and 6-cutter studies, respectively) was smaller than that reported for most regions studied in D. melanogaster. It was found that the Slow allozyme has a larger nucleotide variation and haplotype diversity than the Fast allozyme. Results suggest the relatively recent divergence of the Fast allozyme from the Slow allozyme. Glucose 6-phosphate dehydrogenase (G6PD) activity was measured as a phenotype of the Zw locus. A significant difference in G6PD activity between allozymes was detected. The between-line effect was highly significant within the Slow allozyme, but was not significant within the Fast allozyme. Although a direct causative link could not be established, these results suggest an association between the amounts of quantitative and molecular genetic variation at the Zw locus region.
Distance and pairing effects on the brownDominant heterochromatic element in Drosophila.
Authors: Henikoff S , Jackson J M , Talbert P B 
Published: April 2021

Abstract
We examined the behavior of the brownDominant (bwD) heterochromatic insertion moved to different locations relative to centric heterochromatin. Effects were measured as the degree of silencing of a wild-type brown eye pigment gene by bwD across a tandem duplication. A series of X-ray-induced effects were recovered at high frequency. Cis-acting enhancers were obtained by relocation of the duplication closer to autosomal heterochromatin. Enhancers were also recovered on the homologous chromosome when it was similarly rearranged, revealing a novel interhomologue effect whereby interactions occur between genetic elements near opposite ends of a chromosome arm rather than between paired alleles. Cis-acting suppressors were obtained as secondary rearrangements in which the duplication was moved farther away from heterochromatin. Suppression was correlated with loss of cytological association between bwD and the polytene chromocenter. Surprisingly, the distance from bwD to the chromocenter was not correlated with the strength of enhancement or suppression. We propose that bwD fails to coalesce with the chromocenter when its position along the chromosome places it beyond a threshold distance from heterochromatin, and this threshold depends upon the configuration of both the chromosome carrying bwD and its paired homologue.
Molecular and phenotypic characterization of a new mouse insertional mutation that causes a defect in the distal vertebrae of the spine.
Authors: Schrick J J , Dickinson M E , Hogan B L , Selby P B , Woychik R P 
Published: April 2021

Abstract
We have identified and characterized the phenotype of a new insertional mutation in one line of transgenic mice. Mice carrying this mutation, which we have designated TgN(Imusd)370Rpw, display undulations of the vertebrae giving rise to a novel kinky-tail phenotype. Molecular characterization of the insertion site indicates that the transgene integration has occurred without any substantial alterations in the structure of the host sequences. Using probes that flank the insertion site, we have mapped the mutation to chromosome 5 near the semidominant mutation, thick tail (Tht). Thick tail does not complement the TgN(Imusd)370Rpw mutation; compound mutants containing one copy of each mutation display a more severe phenotype than either mutation individually.
Genetic instability within monotonous runs of CpG sequences in Escherichia coli.
Authors: Bichara M , Schumacher S , Fuchs R P 
Published: April 2021

Abstract
Genetic information can be altered by base substitutions, frameshift mutations, and addition or deletion of nucleotides. Deletions represent an important class of genetic aberration occurring at DNA sequences where it is often possible to predict the existence of intermediates of mutation. Instability within tracts of repetitive sequence have recently been associated with several genetic disorders, including the so-called triplet repeat diseases and certain forms of colorectal cancers. In Escherichia coli, (GpC)n repetitive sequences have been shown to be deletion prone, but the precise mechanism of this mutagenic pathway is still unknown. We show here that interrupting the monotony of the (GpC)n run with an ApT or a GpT dinucleotide decreases the rate of deletions within these sequences. On the other hand, introducing purine-pyrimidine alternating sequences beside the GpC insert results in an increased rate of deletion. Two pathways can be envisioned: (1) (GpC)n tracts can be seen as potential Z-forming DNA sequences, and this unusual DNA structure can be processed by an unknown cellular mechanism to give rise to the observed deletions and (2) (GpC)n monotonous runs can be considered as a succession of direct or palindromic repeats, allowing formation of DNA structures that are known to participate to frameshift mutagenesis. The results presented in this article are discussed in the light of these two alternative pathways.