23,318 research outputs found
X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms.
No full textX linked dominant Charcot-Marie-Tooth disease (CMTX1) has previously been localised to Xq13-21. Fifteen families were studied using 12 highly informative polymorphisms in the pericentric region of the X chromosome. Phase known recombinations in these families localise the X linked dominant CMT gene to the region distal to DXS106 (Xq11.2-12) and proximal to DXS559 (Xq13.1). These markers flank approximately 2 to 3 Mb of DNA to which GJB1 and CCG1 have already been mapped. A recent report of mutations in the GJB1 gene in subjects with CMTX1 makes this a strong candidate gene
Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)
No full textX-linked dominant Charcot-Marie-Tooth disease (CMTX1) is a peripheral neuropathy which maps to Xq13 and is flanked by the loci DXS106 (Xq11.2-q12) and DXS559 (Xq13.1). Contained within this interval of approximately 2-3Mb of DNA is the gene, connexin 32 (locus designation GJ beta 1). This gene encodes a gap junction protein which is expressed in large quantities within the liver and throughout a range of other mammalian tissues. We have sequenced the coding region of exon 2 of this gene from affected individuals in nine families with CMTX 1 and have found mutations which segregate with the disease in eight of these families. The mutations detected include missense point mutations at codons 15, 60, 63, 208, and 215, a nonsense point mutation at codon 220, deletions of one base in codon 72/3 producing a stop codon 12 codons down stream and a three base pair deletion which can be predicted to result in the loss of a single amino acid. These findings are consistent with the disease CMTX1 being the result of mutations affecting the gene connexin 32 (Cx32)
Dynamics of Network Formation Processes in the Co-Author Model
No full textThis article studies the dynamics in the formation processes of a mutual consent network in game theory setting: the Co-Author Model. In this article, a limited observation is applied and analytical results are derived. Then, 2 parameters are varied: the number of individuals in the network and the initial probability of the links in the network in its initial state. A simulation result shows a finding that is consistent with an analytical result for a state of equilibrium while it also shows different possible equilibria.Dynamics, Network, Game Theory, Model,Simulation, Equilibrium, Complexity
Examination of the financial and economic impact US exchange rate volatility has on fixed income securities for Chinese investors
No full textCriminally Incompetent Academic Misinterpretation of Criminal Data-and how the Media Pushed the Fake News
No full textOn 17 Jan 2018 multiple news sources (e.g. see here, here, and here) ran a story about a new research paper that claims to expose both the inaccuracies and racial bias in one of the most common algorithms used by parole boards to predict recidivism (i.e. whether or not a defendant will re-offend). The research paper was written by the world famous computer scientist Hany Farid (along with a student Julia Dressel). But the real story here is that the paper’s accusation of racial bias (specifically that the algorithm is biased against black people) is based on a fundamental misunderstanding of causation and statistics. The algorithm is no more ‘biased’ against black people than it is biased against white single parents, old people, people living in Beattyville Kentucky, or women called ‘Amber’. In fact, as we show in this brief article, if you choose any factor that correlates with poverty you will inevitably replicate the statistical ‘bias’ claimed in the paper. And if you accept the validity of the claims in the paper then you must also accept, for example, that a charity which uses poverty as a factor to identify and help homeless people is being racist because it is biased against white people (and also, interestingly, Indian Americans). The fact that the article was published and that none of the media running the story realise that they are pushing fake news is what is most important here. Depressingly, many similar research studies involving the same kind of misinterpretation of statistics result in popular media articles that push a false narrative of one kind or another
Il tesoro della Sardegna ne' bachi e ne' gelsi
No full textA critical edition of Antonio Purqueddu, Il tesoro della Sardegna ne' bachi e ne' gelsi, a didactic poem – written in Campidanese Sardinian with a version in Italian by the same author – published in 1779.
The Introduction of the editor sets this work into its historical seventeenth-century context with reference to Italian and European culture. The editor brings the specific ideality and political plan of the author to light, as is done with the other didactic authors living in Sardinia during the second half of the XVIII century
Evlenmeyin: Nasıl, Ne Zaman Ve Kiminle Evlenilebileceği Üzerine Tavsiyeler
No full textJames W. Donovan's "Don't Marry" ( Evlenmeyin Nasıl, Ne Zaman Ve Kiminle Evlenilebileceği Üzerine Tavsiyeler) is an advice book written in the late 19th century that deals with the institution of marriage and partner selection. Translated into Turkish by Umut Yarım, this work starts from the premise that marriage is a serious partnership rather than a romantic dream. The author warns young people against making hasty decisions and lists the points to be considered to achieve happiness in marriage. The book covers topics such as the characteristics of the ideal spouse, character compatibility, the importance of financial status, and the difficulties that may be encountered in marriage in detail. While seeking answers to fundamental questions such as "Who to marry?" and "When to marry?", Donovan also examines the causes of unhappy marriages. Although the work reflects the social norms of the period, it encourages the reader to make conscious and prudent choices by offering universal observations on human relationships. The author's aim is not to reject marriage completely, but to protect against the regrets of marriages made with the wrong person or at the wrong time.James W. Donovan'ın "Evlenmeyin" (Don't Marry) adlı eseri, evlilik kurumunu ve eş seçimini ele alan, 19. yüzyıl sonlarında yazılmış bir tavsiye kitabıdır. Umut Yarım tarafından Türkçeye çevrilen bu çalışma, evliliğin romantik bir hayalden ziyade ciddi bir ortaklık olduğu gerçeğinden yola çıkar. Yazar, gençleri aceleci kararlar vermemeleri konusunda uyarır ve evlilikte mutluluğu yakalamak için dikkat edilmesi gereken hususları sıralar. Kitapta, ideal eşin özellikleri, karakter uyumu, maddi durumun önemi ve evlilikte karşılaşılabilecek zorluklar gibi konular detaylı bir şekilde işlenir. Donovan, "Kiminle evlenmeli?" ve "Ne zaman evlenmeli?" gibi temel sorulara yanıt ararken, mutsuz evliliklerin nedenlerini de irdeler. Eser, dönemin toplumsal normlarını yansıtmakla birlikte, insan ilişkilerine dair evrensel gözlemler sunarak okuyucuyu bilinçli ve sağduyulu seçimler yapmaya teşvik eder. Yazarın amacı evliliği tamamen reddetmek değil, yanlış kişiyle veya yanlış zamanda yapılan evliliklerin getireceği pişmanlıklardan korumaktır
Amenities and the returns to human capital
No full textA demonstration that regional differences in the returns to human capital do not necessarily imply structural differences in regional labor markets, but could be reflecting compensation for regional differences in amenities.Labor market ; Wages
- …
