bluuebunny/crossref_metadata_2025_split huggingface dataset:
The genetic architecture of leaf number and its genetic relationship to flowering time in maize
Authors: Li Dan , Wang Xufeng , Zhang Xiangbo , Chen Qiuyue , Xu Guanghui , Xu Dingyi , Wang Chenglong , Liang Yameng , Wu Lishuan , Huang Cheng , Tian Jinge , Wu Yaoyao , Tian Feng 
Published: November 2015

Summary

The number of leaves and their distributions on plants are critical factors determining plant architecture in maize (Zea mays), and leaf number is frequently used as a measure of flowering time, a trait that is key to local environmental adaptation.

Here, using a large set of 866 maize‐teosinte BC2S3 recombinant inbred lines genotyped by using 19 838 single nucleotide polymorphism markers, we conducted a comprehensive genetic dissection to assess the genetic architecture of leaf number and its genetic relationship to flowering time.

We demonstrated that the two components of total leaf number, the number of leaves above (LA) and below (LB) the primary ear, were under relatively independent genetic control and might be subject to differential directional selection during maize domestication and improvement. Furthermore, we revealed that flowering time and leaf number are commonly regulated at a moderate level. The pleiotropy of the genes ZCN8, dlf1 and ZmCCT on leaf number and flowering time were validated by near‐isogenic line analysis. Through fine mapping, qLA1‐1, a major‐effect locus that specifically affects LA, was delimited to a region with severe recombination suppression derived from teosinte.

This study provides important insights into the genetic basis of traits affecting plant architecture and adaptation. The genetic independence of LA from LB enables the optimization of leaf number for ideal plant architecture breeding in maize.
Filaggrin genotype and skin diseases independent of atopic dermatitis in childhood
Authors: Bager Peter , Wohlfahrt Jan , Thyssen Jacob Pontoppidan , Melbye Mads 
Published: November 2015

AbstractBackgroundFilaggrin gene (FLG) mutations compromise skin barrier functions and increase risk of atopic dermatitis. We aimed to study effects on other skin diseases using unique data from the Danish registers.MethodsFLG genotyping of a population‐based sample of 1547 children with extracted DNA and information on skin diseases from the Danish National Birth Cohort and Health Register, with 18 years follow‐up during years 1996–2013. Odds ratios (OR) and hazard ratios (HR) were estimated using logistic regression and Cox regression, respectively, and adjusted for physician‐diagnosed atopic dermatitis.ResultsFLG mutations were associated with increased risk of dry skin (OR 1.9, CI 1.1–3.1), and a decreased risk of fungal skin infections at age <18 months (OR 0.2, CI 0.1–0.8). There was no association with wart treatments (HR 1.0, CI 0.6–1.7). FLG mutations were associated with an increased risk of atopic dermatitis (OR 3.3, CI 2.1–5.3), dermatology consultations for allergy or rash (HR 2.2, CI 1.4–3.5), basic dermatology consultations at age <5 years (HR 2.2, CI 1.7–2.9), urticaria at age <18 months (OR 2.9, CI 1.0–7.9), and other rash at age <18 months (OR 2.1, CI 1.2–3.8).ConclusionsFLG mutations may predispose to skin disease in young children including urticaria, and rash not recognized as atopic dermatitis although equally frequent. In clinical practice, FLG genotyping may help indicate the use of moisturizers to reduce skin problems.
Key findings to expedite the diagnosis of hyper‐IgE syndromes in infants and young children
Authors: Hagl Beate , Heinz Valerie , Schlesinger Anne , Spielberger Benedikt D. , Sawalle‐Belohradsky Julie , Senn‐Rauh Monika , Magg Thomas , Boos Annette C. , Hönig Manfred , Schwarz Klaus , Dückers Gregor , von Bernuth Horst , Pache Christoph , Karitnig‐Weiss Cäcilia , Belohradsky Bernd H. , Frank Josef , Niehues Tim , Wahn Volker , Albert Michael H. , Wollenberg Andreas , Jansson Annette F. , Renner Ellen D. 
Published: November 2015

AbstractBackgroundHyper‐IgE syndromes (HIES) are primary immunodeficiency disorders characterized by elevated serum IgE, eczema, and recurrent infections. Despite the availability of confirmatory molecular diagnosis of several distinct HIES entities, the differentiation of HIES particularly from severe forms of atopic dermatitis remains a challenge. The two most common forms of HIES are caused by mutations in the genes STAT3 and DOCK8.MethodsHere, we assess the clinical and immunologic phenotype of DOCK8‐ and STAT3‐HIES patients including the cell activation, proliferation, and cytokine release after stimulation.ResultsExisting HIES scoring systems are helpful to identify HIES patients. However, those scores may fail in infants and young children due to the age‐related lack of clinical symptoms. Furthermore, our long‐term observations showed a striking variation of laboratory results over time in the individual patient. Reduced memory B‐cell counts in concert with low specific antibody production are the most consistent findings likely contributing to the high susceptibility to bacterial and fungal infection. In DOCK8‐HIES, T‐cell lymphopenia and low IFN‐gamma secretion after stimulation were common, likely promoting viral infections. In contrast to STAT3‐HIES, DOCK8‐HIES patients showed more severe inflammation with regard to allergic manifestations, elevated activation markers (HLA‐DR, CD69, CD86, and CD154), and significantly increased inflammatory cytokines (IL1‐beta, IL4, IL6, and IFN‐gamma).ConclusionDifferentiating HIES from other diseases such as atopic dermatitis early in life is essential for patients because treatment modalities differ. To expedite the diagnosis process, we propose here a diagnostic workflow.
Cows' milk exclusion diet during infancy: Is there a long‐term effect on children's eating behaviour and food preferences?
Authors: Maslin Kate , Grundy Jane , Glasbey Gillian , Dean Tara , Arshad Syed Hasan , Grimshaw Kate , Oliver Erin , Roberts Graham , Venter Carina 
Published: November 2015

AbstractBackgroundDietary restriction during infancy may influence later eating behaviour. The aim of this study was to determine whether consuming a cows' milk exclusion (CME) diet during infancy affects eating habits in later childhood, once cows' milk has been reintroduced into the diet.MethodsChildren were recruited from two large birth cohort studies in the UK. A small number of participants were recruited from allergy clinic. Two groups were recruited: an experimental group of children who had consumed a CME diet during infancy and a control group, who had consumed an unrestricted diet during infancy. Parents and children completed questionnaires regarding eating behaviour and food preferences.ResultsIn total, 101 children of mean age 11.5 years were recruited (28 CME and 73 controls). The CME group scored significantly higher on ‘slowness of eating' and on the combined ‘avoidant eating behaviour' construct (p < 0.01). The number of foods avoided and symptoms was associated with higher levels of avoidant eating behaviour (p < 0.05). The CME group rated liking for several dairy foods (butter, cream, chocolate, full fat milk and ice cream) significantly lower than the control group (p < 0.05), although there were no significant differences seen for any other category of food.ConclusionThis study demonstrated that consuming a CME diet during infancy has persistent and long‐term effects on eating habits and food preferences. To reduce future negative eating behaviours, children's exclusion diets need to be as varied as possible and reintroduction of cows' milk products closely monitored.
Faith, Generosity, Knowledge and the Buddhist Gift: Moral Discourses on Chinese Patronage of Tibetan Buddhist Monasteries
Authors: Caple Jane 
Published: November 2015

AbstractChinese imperial patronage of Tibetan Buddhism has a long history. However, in recent years, increasing numbers of private Chinese individuals have been making gifts to Tibetan Buddhist monasteries and monks. There is a growing body of scholarship examining reasons for the increasing interest in Tibetan Buddhism. However, there has been little discussion of how Chinese patronage is perceived ‘back home’ in the monasteries receiving gifts and their local supporting communities. Scholars have argued that Sino‐Tibetan patronage relationships are based on a common understanding of religious sponsorship and operate relatively smoothly. However, as this paper shows, this is not how many local people see them. The insertion of Chinese patronage into the complex local field of religious giving can be delicate and even dangerous for monastics. Examination of local moral discourses to see when and how Sino‐Tibetan patronage breaks the ‘rules of the game’ suggests that there are values that underpin the ethics of both Buddhist gifts and remunerations for religious services, despite their conceptual distinction in emic understandings. In particular, the category of faith (dad pa) and its relationship to generosity and knowledge are central to the ethics and efficacy of religious giving to monastics, while the virtue of unsolicited giving is of particular importance for monastic recipients of wealth and goods from the laity.
Correcting Acidosis during Hemodialysis: Current Limitations and a Potential Solution
Authors: Tovbin David , Sherman Richard A. 
Published: November 2015

AbstractThe deleterious catabolic and pro‐inflammatory effects of acidosis in hemodialysis (HD) patients and the importance of its correction for limiting mineral bone disease (MBD) are well known. Although oral base therapy could be a solution for correcting acidosis in HD patients, it increases their already enormous medication load and sodium intake; this approach is not used commonly. Therefore, we need to rely more on correcting acidosis during the HD procedure, which is difficult to achieve, in part, because HD is an intermittent therapy. The currently used fixed dialysate bicarbonate concentrations are associated with pre‐HD acidosis and intra‐dialytic alkalosis. We suggest that a decreasing dialysate bicarbonate concentration from an initially high concentration be considered as a means of correcting acidosis with limited intra‐dialytic alkalosis. Some evidence, as well as theoretical considerations, supports such an approach.
Genetic variation of theMHCclassII DRBgenes in the Japanese weasel,Mustela itatsi, endemic to Japan, compared with the Siberian weasel,Mustela sibirica
Authors: Nishita Y. , Abramov A. V. , Kosintsev P. A. , Lin L.‐K. , Watanabe S. , Yamazaki K. , Kaneko Y. , Masuda R. 
Published: November 2015

AbstractMajor histocompatibility complex (MHC) genes encode proteins that play a critical role in vertebrate immune system and are highly polymorphic. To further understand the molecular evolution of theMHCgenes, we comparedMHCclassII DRBgenes between the Japanese weasel (Mustela itatsi), a species endemic to Japan, and the Siberian weasel (Mustela sibirica), a closely related species on the continent. We sequenced a 242‐bp region ofDRBexon 2, which encodes antigen‐binding sites (ABS), and found 24 alleles from 31M. itatsiindividuals and 17 alleles from 21M. sibiricaindividuals, including broadly distributed, species‐specific and/or geographically restricted alleles. Our results suggest that pathogen‐driven balancing selection have acted to maintain the diversity in theDRBgenes. For predictedABS, nonsynonymous substitutions exceeded synonymous substitutions, also indicating positive selection, which was not seen at non‐ABS. In a Bayesian phylogenetic tree, twoM. sibiricaDRBalleles were basal to the rest of the sequences from mustelid species and may represent ancestral alleles. Trans‐species polymorphism was evident between many mustelidDRBalleles, especially betweenM. itatsiandM. sibirica. These twoMustelaspecies divided about 1.7 million years ago, but still share manyMHCalleles, indicative of their close phylogenetic relationship.
Association of HLA‐DQ alleles with the presence of an anti‐β2‐glycoprotein I antibody in patients with recurrent miscarriage
Authors: Chen X. , Liang P‐Y. , Li G‐G. , Diao L‐H. , Liu C‐C. , Huang C‐Y. , Wu T‐H. , Xu J. , Zeng Y. 
Published: November 2015

AbstractImmunogenetic studies have suggested that autoantibody production is commonly associated with particular human leukocyte antigens (HLA) class II genotypes in certain autoimmune diseases. The objective of this study was to investigate whether the production of anti‐β2‐glycoprotein I antibody (aβ2GPI) was associated with particular HLA‐DQ alleles in patients with recurrent miscarriage (RM). The HLA‐DQ genotypes in 126 patients with RM were determined using the polymerase chain reaction‐sequence‐specific primer method. Both the IgG and IgM isotypes of aβ2GPI were measured via enzyme‐linked immunosorbent assay. Positive results for either IgG or IgM on two occasions within an interval of 12 weeks were defined as antiphospholipid antibody‐positive. The frequencies of the HLA‐DQA1*01:02 [odds ratio (OR) 3.4, 95% confidence interval (CI) 1.6–7.0, Pc = 0.018] and HLA‐DQB1*02:01 alleles (OR 4.6, 95% CI 2.1–10.2, Pc = 9.18 × 10−4) were significantly increased in aβ2GPI‐positive RM patients compared with aβ2GPI‐negative RM patients. These results suggest that the HLA‐DQA1*0102 and HLA‐DQB1*0201 alleles may be involved in the production of aβ2GPI in RM patients.
A Sampling Framework for Uncertainty in Individual Environmental Decisions
Authors: Galesic Mirta , Kause Astrid , Gaissmaier Wolfgang 
Published: November 2015

AbstractDecisions in the environmental and in particular the climate domain are burdened with uncertainty. Here, we focus on uncertainties faced by individuals when making decisions about environmental behavior, and we use the statistical sampling framework to develop a classification of different sources of uncertainty they encounter. We then map these sources to different public policy strategies aiming to help individuals cope with uncertainty when making environmental decisions.
High mortality among children with sickle cell anemia and overt stroke who discontinue blood transfusion after transition to an adult program
Authors: McLaughlin Joseph F. , Ballas Samir K. 
Published: November 2015

BACKGROUNDChronic blood transfusion is the standard of care in the management of overt stroke due to sickle cell anemia (SS) to prevent recurrence of stroke. The problem arises when children are transitioned to adult care where blood transfusion may be discontinued. The purpose of this study was to report the outcome of 22 patients with SS and overt stroke who were transitioned to our adult program between 1993 and 2009.STUDY DESIGN AND METHODSTransitioned patients were kept on chronic blood transfusion they had as children. Blood bank data were performed and computerized according to FDA and AABB regulations. Records were kept prospectively. Blood counts and percent hemoglobin (Hb)S were obtained before and after transfusion. HbS was kept below 30% after transfusion. Metabolic profiles were obtained every 6 months or more often if needed. Statistical analysis was by the two‐tailed t‐test.RESULTSPatients who were compliant with blood transfusion were rarely hospitalized for painful crises. Alloimmunization and iron overload were the major complications of blood transfusion. Eight patients who refused to be maintained on chronic blood transfusion or who were noncompliant died within 1 to 5 years after transition. Causes of death included stroke in two, sudden in three, and multiorgan failure in three. The overall rate of death after transition was 36% and the major cause was discontinuation of blood transfusion.CONCLUSIONEfforts must be made to maintain adequate chronic simple or exchange blood transfusion for children with SS and stroke after transition to adult care.
Liquid chromatography‐tandem mass spectrometry (LC‐MS/MS) for analysis of endogenous steroids in the luteal phase and early pregnancy in dogs: a pilot study
Authors: Holst Bodil S. , Kushnir Mark M. , Bergquist Jonas 
Published: November 2015

BackgroundBlood samples from dogs are often limited in volume, only allowing few steroids to be quantified with immunoassays. In addition, immunoassays may be compromised by interferences such as anti‐reagent antibodies. Liquid chromatography‐tandem mass spectrometry (LC‐MS/MS) can be used for the simultaneous quantitation of several steroids. This has not been described in dogs before.ObjectivesThe aims were to use LC‐MS/MS to study steroid profiles in early pregnancy and luteal phase in dogs, and to determine if differences exist between pregnant (P) and nonpregnant (NP) dogs.MethodsNine female dogs were included, 4 during a NP luteal phase, 4 during a P luteal phase, and one during one NP and one P luteal phase. Blood samples were collected around the time of the LH surge (Day 0) and on Day 26. Serum was analyzed for 5 classes of steroids, including glucocorticoids, androgens, estrogens, pregnanes, and progestins, using LC‐MS/MS methods.ResultsThe concentration of progesterone was significantly higher on Day 26 in P than in NP bitches. Distribution of concentrations of glucocorticoids, androgens, estrogens, or pregnanes in P and NP dogs were not statistically different. The predominating glucocorticoid was cortisol, and dihydroepiandrosterone (DHEA) was the predominating androgen. Concentration of estrone was comparable to oestradiol, whereas concentrations of pregnenolone were higher than those of 17‐OH pregnenolone.ConclusionsOnly concentration of progesterone differed between P and NP bitches, being significantly higher on Day 26 in P than in NP bitches. LC‐MS/MS offers interesting possibilities for studies of canine reproductive endocrinology.
The zebrafish pinball wizard gene encodes WRB, a tail‐anchored‐protein receptor essential for inner‐ear hair cells and retinal photoreceptors
Authors: Lin Shuh‐Yow , Vollrath Melissa A. , Mangosing Sara , Shen Jun , Cardenas Elena , Corey David P. 
Published: November 2015

Key points
The zebrafish pinball wizard (pwi) mutant is deaf and blind.
The pwi phenotype includes a reduced auditory startle response and reduced visual evoked potentials, suggesting fatigue of synaptic release at ribbon synapses in hair cells and photoreceptors.
The gene defective in the pwi mutant is WRB, a protein homologous to the yeast protein Get1, which is involved in the insertion of ‘tail‐anchored’ membrane proteins.
Many tail‐anchored proteins are associated with synaptic vesicles, and both vesicles and synaptic ribbons are reduced in synaptic regions of hair cells in pwi.
Abnormal processing of synaptic vesicle proteins important for ribbon synapses can explain the pwi phenotype.
AbstractIn a large‐scale zebrafish insertional mutagenesis screen, we identified the pinball wizard (pwi) line, which displays a deafness and blindness phenotype. Although the gross morphology and structure of the pwi larval inner ear was near normal, acoustic startle stimuli evoked smaller postsynaptic responses in afferent neurons, which rapidly fatigued. In the retina, similarly, an abnormal electroretinogram suggested reduced transmission at the photoreceptor ribbon synapse. A functional deficit in these specialized synapses was further supported by a reduction of synaptic marker proteins Rab3 and cysteine‐string protein (CSP/Dnajc5) in hair cells and photoreceptors, as well as by a reduction of the number of both ribbons and vesicles surrounding the ribbons in hair cells. The pwi gene encodes a homologue of the yeast Get1 and human tryptophan‐rich basic (WRB) proteins, which are receptors for membrane insertion of tail‐anchored (TA) proteins. We identified more than 100 TA proteins expressed in hair cells, including many synaptic proteins. The expression of synaptobrevin and syntaxin 3, TA proteins essential for vesicle fusion, was reduced in the synaptic layers of mutant retina, consistent with a role for the pwi/WRB protein in TA‐protein processing. The WRB protein was located near the apical domain and the ribbons in hair cells, and in the inner segment and the axon of the photoreceptor, consistent with a role in vesicle biogenesis or trafficking. Taken together, our results suggest that WRB plays a critical role in synaptic functions in these two sensory cells, and that disrupted processing of synaptic vesicle TA proteins explains much of the mutant phenotype.
Relación entre tipo y cantidad de carbohidratos dietarios con el perfil lipídico y ApoB100 en adultos
Authors: Ojeda-Arredondo Myriam , Escobar Juliana , Guerra Martha , Alvarado Martha 
Published: November 2015

<p><strong></strong> <strong>Objective.</strong> To establish if there is any relationship between the type and amount of dietary carbohydrates commonly consumed and the plasmatic levels of lipids, lipoproteins and apolipoprotein B100 (ApoB100). <strong>Materials and methods</strong>. The final sample was conformed by the database of 144 lecturers of the Pontificia Universidad Javeriana who had previously participated in another survey and from which we used information on their food habits, plasmatic lipid levels, lipoproteins and ApoB100. To determine the relationship between the dependent and independent variables, simple and multiple correlation analyses were done. In the cases of no correlation we applied the independence Chi<sup>2</sup> test to find the relationship with the consumption of total carbohydrates, sugars and total fiber. Additionally, with a one-factor analysis of variance we compared plasmatic levels of lipids, lipoproteins and ApoB100 with the consumption of total carbohydrates, sugars and fiber. <strong>Results.</strong> Most of the population consumes above the daily total carbohydrate recommendation, men presented greater carbohydrate consumption of the type of sugars and more elevated plasmatic levels of triglycerides and lipoproteins of very low density (VLDL), whereas women presented higher levels of their high density lipoproteins (HDL). When relating grams of each type of carbohydrates with the levels of lipids, lipoproteins and ApoB100, no significant correlation was found for any of the cases (p&gt;0,05). <strong>Conclusion.</strong> There was no significant relationship between the type and amount of carbohydrates consumed with the plasmatic levels of lipids, lipoproteins and Apo B100.</p> <p><strong>Key words:</strong> apolipoprotein B100, carbohydrates, plasmatic lipids, lipoproteins.</p><br />