5,077 research outputs found
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis
No full textEllis van Creveld syndrome and Weyers acrofacial dysostosis are allelic disorders caused by mutations in EVC or EVC2 genes. We illustrate the results of direct analysis of whole EVC and EVC2 genes' coding regions in 32 unrelated families with clinical diagnosis of Ellis van Creveld syndrome and in 2 families with Weyers acrofacial dysostosis. We identified mutations in 27/32 (84%) cases with Ellis van Creveld syndrome and 2/2 cases with Weyers acrofacial dysostosis. Of the Ellis van Creveld syndrome cases, 20/27 (74%) had a mutation in EVC and 7/27 (26%) in EVC2 genes. The two subjects with Weyers acrofacial dysostosis had a heterozygous mutation in the last exon of EVC2. In total, we detected 25 independent EVC and 11 independent EVC2 mutations. Nineteen EVC mutations (19/25, 76%) and 4 EVC2 mutations (4/11, 36%) were novel. Also one EVC2 gene mutation found in Weyers acrofacial dysostosis was novel. In 5 unrelated cases with a clinical diagnosis of Ellis van Creveld syndrome, we did not find any mutation in either EVC or EVC2 genes. Current findings expand the Ellis van Creveld syndrome and Weyers acrofacial dysostosis mutation spectra, and provide further evidence that the last exon of EVC2 gene is a hot spot for Weyers acrofacial dysostosis mutations. Accordingly, EVC2 exon 22 should be analyzed with priority by mutation screening in individuals with a suspected diagnosis of Weyers acrofacial dysostosis. © 2012 Elsevier Masson SAS
Introducing “La fabrique du droit”. A Conversation with Bruno Latour
No full textBruno Latour talks with Paolo Landri about his book on the Conseil d'Etat (La Fabrique du droit). The conversation was held in 2006 at the time of the Italian translation of the book and illustrates the research project and the difficulties the author had in the field. At the same time, it clarifies the trajectories of Bruno Latour's work and theoretical framework of his program of study with respect to sociology, anthropology, and philosophy of law. The conversation helps to understand the open-ended character of Bruno Latour's research and reflection including STS as well as sociological, anthropological and philosophical themes
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis
No full textEllis-van Creveld syndrome (EvC, MIM 225500) is an autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly and dysplastic nails and teeth. Congenital cardiac defects, most commonly a defect of primary atrial septation producing a common atrium, occur in 60% of affected individuals. The disease was mapped to chromosome 4p16 in nine Amish subpedigrees and single pedigrees from Mexico, Ecuador and Brazil. Weyers acrodental dysostosis (MIM 193530), an autosomal dominant disorder with a similar but milder phenotype, has been mapped in a single pedigree to an area including the EvC critical region. We have identified a new gene (EVC), encoding a 992-amino-acid protein, that is mutated in individuals with EvC. We identified a splice-donor change in an Amish pedigree and six truncating mutations and a single amino acid deletion in seven pedigrees. The heterozygous carriers of these mutations did not manifest features of EvC. We found two heterozygous missense mutations associated with a phenotype, one in a man with Weyers acrodental dysostosis and another in a father and his daughter, who both have the heart defect characteristic of EvC and polydactyly, but not short stature. We suggest that EvC and Weyers acrodental dysostosis are allelic conditions
Author Correction: Collection of the digital data from the neurological examination.
No full textIn this article, the corresponding author was inadvertently designated only to “Bruno Kusznir Vitturi” but it should have been “Bruno Kusznir Vitturi” and “Walter Maetzler”. The original article has been corrected
On Bruno Schulz’s Bookplates
No full textThe Polish version of the article was published in Roczniki Humanistyczne vol. 64, issue 1 (2016).
The article enters into a dialogue with the interpretation of Bruno Schulz’s bookplates made by Władysław Panas in his book Bruno od Mesjasza (Bruno of the Messiah) (Lublin 2001). An attempt to understand them in a different (less holistic) way leads the author of the article to the conclusion that in Schulz’s plates the first veiled variant of the mythical Book may be seen—of the fundamental motif of Bruno Schulz’s later literary work
Jordan "Bruno" Gegenhuber '16 Publishes First-Author Research
No full textJordan "Bruno" Gegenhuber '16 had first-author research, "Gene regulation by gonadal hormone receptors underlies brain sex differences," published in nature magazine on May 4, 2022.Jordan "Bruno" Gegenhuber '16 had first-author research, "Gene regulation by gonadal hormone receptors underlies brain sex differences," published in Nature magazine on May 4, 2022.
Sex hormones play a central role in shaping behavior throughout the animal kingdom, and this study maps where the receptor for estrogen binds to DNA in neurons that regulate rodent social interactions. The findings reveal that estrogen establishes lasting sex differences in gene expression and neuroanatomy during brain development, and identifies hundreds of genes that may mediate estrogen's effects on behavior and disease.
Gegenhuber earned a PhD from the Cold Springs Harbor Laboratory School of Biological Sciences in Long Island, N.Y.. in May 2022. His field of research is in neuroscience, and he has accepted a postdoctoral research position at Harvard Medical Center in Boston, Mass. He also holds the honor of being the Pacific Class of 2016 Valedictorian
Bruno Schulz i polityka
No full textBruno Schulz and politicsThe article discusses Bruno Schulz’s attitude toward politics. It is well known that the author of The Cinnamon Shops was a nonpolitical man. This was the reason for some fi erce attacks against his prose conducted by politically engaged literary critics in the interwar Poland. The author mentions these attacks but he also analyzes Schulz’s less known essays about Piłsudski, Aragon and Brecht, and the way Schulz pictured politics in his prose. It seems that a political dictionary of the author of The Street of Crocodiles comprised terms from different political ideologies; he alluded to Marx, anarchism and Brzozowski. At the end of his article the author discusses the question whether Schulz’s nonpolitical attitude could be compared to the so called conservative revolution in Germany after World War I
Bruno Schulz i polityka
No full textBruno Schulz and politicsThe article discusses Bruno Schulz’s attitude toward politics. It is well known that the author of The Cinnamon Shops was a nonpolitical man. This was the reason for some fi erce attacks against his prose conducted by politically engaged literary critics in the interwar Poland. The author mentions these attacks but he also analyzes Schulz’s less known essays about Piłsudski, Aragon and Brecht, and the way Schulz pictured politics in his prose. It seems that a political dictionary of the author of The Street of Crocodiles comprised terms from different political ideologies; he alluded to Marx, anarchism and Brzozowski. At the end of his article the author discusses the question whether Schulz’s nonpolitical attitude could be compared to the so called conservative revolution in Germany after World War I
Notes on Bruno Schweizer, December 1937
No full textA document discussing Bruno Schweizer, focusing on his involvement in the Housigau Homeland Association and its related magazine as well as his lack of engagement with the Nazi party. The comments indicate that he did not give the Nazi salute or make donations to the party or its affiliated organizations. Includes handwritten comments by Wolfram Sievers and Walther Wüst.https://digitalcommons.ursinus.edu/ahnenerbe_schweizer/1003/thumbnail.jp
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