在线或离线葡萄酒购买：决定法国消费者购买意向的一些因素

This paper aims at determining the reasons why customers prefer to buy wine online or offline, the first comprising both mobile-commerce (m-commerce) and e-commerce platforms. In particular, this research strives to understand effects of social influence and enjoyment on the intention to purchase wine from online and offline touchpoints. Moreover, the goal is to find out about the differences in the behaviour of French wine buyers and explain the choice of channel buyers prefer to use when they purchase wine.To answer our research questions, data was collected through an online questionnaire. A theoretical model is suggested and tested by the use of SmartPLS3. Online and offline buyers are compared using multi-group analysis (MGA) technique. Wine buyers are compared by the use of one-way ANOVA through SPSS 19.To date no paper has examined the differences between shopping behaviour in a retail store or on e-commerce or m-commerce platforms considering perceived enjoyment and social influence constructs. Hence, this contribution brings to the fore preliminary results on wine shopping behaviour and reveals what drives consumers to make a decision in favour of buying wine online or offline.The results show that fun and social influence affect intention to buy wine from offline touchpoints. Enjoyment also strongly and significantly affects the intention to buy wine from online touchpoints.В статье определяются причины, по которым потребители предпочитают покупать вино онлайн или офлайн, причем первый вариант включает в себя как мобильные платформы (m-commerce), так и платформы электронной коммерции. Цель исследования, в частности, состоит в том, чтобы определить социальное влияние на намерение купить вино в онлайн- или офлайн-формате, а также узнать о различиях в поведении французских покупателей вина и объяснить, почему они выбирают тот или иной канал покупки.Для ответа на вопросы исследования с помощью онлайн-анкеты были собраны данные. Предложена и протестирована теоретическая модель с использованием SmartPLS3. Онлайн- и офлайн-покупатели сравниваются с помощью метода многогруппового анализа (MGA), а также посредством однофакторного дисперсионного анализа с помощью SPSS 19.До сих пор не проводилось исследований относительно различий между покупательским поведением в розничном магазине и на платформах электронной или мобильной коммерции с учетом получаемого удовольствия и конструктов социального влияния. Настоящее исследование выводит на передний план предварительные результаты о покупательском поведении на рынке вина и показывает, что побуждает потребителей принимать решение в пользу покупки онлайн или офлайн. Результаты показали, что получение удовольствия и социальные факторы влияют на намерение купить вино офлайн; удовольствие так же сильно и существенно влияет на намерение купить вино через интернет.本文章指出了消费者喜欢在线或离线购买葡萄酒的原因，后者包括移动平台（移动商务）和电子商务平台。特别是，该研究旨在了解社会对在线或离线购买葡萄酒意向的影响。此外，该研究的目标是了解法国葡萄酒购买者行为的差异，并解释消费者喜欢用什么办法来购买葡萄酒的选择。为了回答研究问题，作者通过在线调查问卷已收集数据。提出并测试了一个使用SmartPLS3的理论模型。使用多群体分析（MGA）对网上和网下购物者进行了比较。通过使用SPSS 19进行单因素方差分析比较了葡萄酒消费者。到目前为止，还没有文章调查了考虑到享受和社会影响因素在零售店或在电子商务或移动商务平台上的购物行为之间的差异。因此，该研究强调了关于葡萄酒购买者行为的初步结果，并准确地显示了促使消费者决定在线或离线购买葡萄酒的原因。结果显示，享受和社会因素影响了线下购买葡萄酒的意向。享受对网上购买葡萄酒的意向也有很大影响

BUYING WINE ONLINE OR OFFLINE: SOME DETERMINANTS OF BUYER INTENT FOR FRENCH CONSUMERS

This paper aims at determining the reasons why customers prefer to buy wine online or offline, the first comprising both mobile-commerce (m-commerce) and e-commerce platforms. In particular, this research strives to understand effects of social influence and enjoyment on the intention to purchase wine from online and offline touchpoints. Moreover, the goal is to find out about the differences in the behaviour of French wine buyers and explain the choice of channel buyers prefer to use when they purchase wine.To answer our research questions, data was collected through an online questionnaire. A theoretical model is suggested and tested by the use of SmartPLS3. Online and offline buyers are compared using multi-group analysis (MGA) technique. Wine buyers are compared by the use of one-way ANOVA through SPSS 19.To date no paper has examined the differences between shopping behaviour in a retail store or on e-commerce or m-commerce platforms considering perceived enjoyment and social influence constructs. Hence, this contribution brings to the fore preliminary results on wine shopping behaviour and reveals what drives consumers to make a decision in favour of buying wine online or offline.The results show that fun and social influence affect intention to buy wine from offline touchpoints. Enjoyment also strongly and significantly affects the intention to buy wine from online touchpoints

Hirschsprung disease, associated syndromes and genetics: A review

Hirschsprung disease (HSCR, aganglionic megacolon) represents the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births. This developmental disorder is a neurocristopathy and is characterised by the absence of the enteric ganglia along a variable length of the intestine. In the last decades, the development of surgical approaches has importantly decreased mortality and morbidity which allowed the emergence of familial cases. Isolated HSCR appears to be a non-Mendelian malformation with low, sex-dependent penetrance, and variable expression according to the length of the aganglionic segment. While all Mendelian modes of inheritance have been described in syndromic HSCR, isolated HSCR stands as a model for genetic disorders with complex patterns of inheritance. The tyrosine kinase receptor RET is the major gene with both rare coding sequence mutations and/or a frequent variant located in an enhancer element predisposing to the disease. Hitherto, 10 genes and five loci have been found to be involved in HSCR development.published_or_final_versio

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

Background: Hirschsprung disease (HSCR), which is congenital obstruction of the bowel, results from a failure of enteric nervous system (ENS) progenitors to migrate, proliferate, differentiate, or survive within the distal intestine. Previous studies that have searched for genes underlying HSCR have focused on ENS-related pathways and genes not fitting the current knowledge have thus often been ignored. We identify and validate novel HSCR genes using whole exome sequencing (WES), burden tests, in silico prediction, unbiased in vivo analyses of the mutated genes in zebrafish, and expression analyses in zebrafish, mouse, and human. Results: We performed de novo mutation (DNM) screening on 24 HSCR trios. We identify 28 DNMs in 21 different genes. Eight of the DNMs we identified occur in RET, the main HSCR gene, and the remaining 20 DNMs reside in genes not reported in the ENS. Knockdown of all 12 genes with missense or loss-of-function DNMs showed that the orthologs of four genes (DENND3, NCLN, NUP98, and TBATA) are indispensable for ENS development in zebrafish, and these results were confirmed by CRISPR knockout. These genes are also expressed in human and mouse gut and/or ENS progenitors. Importantly, the encoded proteins are linked to neuronal processes shared by the central nervous system and the ENS. Conclusions: Our data open new fields of investigation into HSCR pathology and provide novel insights into the development of the ENS. Moreover, the study demonstrates that functional analyses of genes carrying DNMs are warranted to delineate the full genetic architecture of rare complex diseases

The WD-repeat protein superfamily in Arabidopsis: conservation and divergence in structure and function

BACKGROUND: The WD motif (also known as the Trp-Asp or WD40 motif) is found in a multitude of eukaryotic proteins involved in a variety of cellular processes. Where studied, repeated WD motifs act as a site for protein-protein interaction, and proteins containing WD repeats (WDRs) are known to serve as platforms for the assembly of protein complexes or mediators of transient interplay among other proteins. In the model plant Arabidopsis thaliana, members of this superfamily are increasingly being recognized as key regulators of plant-specific developmental events. RESULTS: We analyzed the predicted complement of WDR proteins from Arabidopsis, and compared this to those from budding yeast, fruit fly and human to illustrate both conservation and divergence in structure and function. This analysis identified 237 potential Arabidopsis proteins containing four or more recognizable copies of the motif. These were classified into 143 distinct families, 49 of which contained more than one Arabidopsis member. Approximately 113 of these families or individual proteins showed clear homology with WDR proteins from the other eukaryotes analyzed. Where conservation was found, it often extended across all of these organisms, suggesting that many of these proteins are linked to basic cellular mechanisms. The functional characterization of conserved WDR proteins in Arabidopsis reveals that these proteins help adapt basic mechanisms for plant-specific processes. CONCLUSIONS: Our results show that most Arabidopsis WDR proteins are strongly conserved across eukaryotes, including those that have been found to play key roles in plant-specific processes, with diversity in function conferred at least in part by divergence in upstream signaling pathways, downstream regulatory targets and /or structure outside of the WDR regions

Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report.

Triple-A syndrome (Allgrove syndrome) is an autosomal recessive disorder characterized by adrenal insufficiency, alacrima, achalasia, and - occasionally - autonomic instability. Mutations have been found in the AAAS gene on 12q13