42 research outputs found
Functional genetics of netherton syndrome
No full textTOULOUSE3-BU Sciences (315552104) / SudocSudocFranceF
Netherton syndrome showing a large clinical overlap with generalized inflammatory peeling skin syndrome
No full text[No abstract available]Bitoun E, 2003, HUM MOL GENET, V12, P2417, DOI 10.1093-hmg-ddg247; Bitoun E, 2002, J INVEST DERMATOL, V118, P352, DOI 10.1046-j.1523-1747.2002.01603.x; Chavanas S, 2000, NAT GENET, V25, P141; Levy-Nissenbaum E, 2003, NAT GENET, V34, P151, DOI 10.1038-ng1163; Oji V, 2010, AM J HUM GENET, V87, P274, DOI 10.1016-j.ajhg.2010.07.005; Yang T, 2004, GENE DEV, V18, P2354, DOI 10.1101-gad.123210411
PTPRR, cerebellum, and motor coordination.
No full textTyrosine phosphorylation is a powerful mechanism of modulation for proliferation, differentiation, and functioning of neurons. The protein products of the neuronal mouse gene PTPRR are physiological regulators of mitogen-activated protein kinase (MAPK) activities. PTPRR(-/-) mice display deficits of motor coordination and balance skills. PTPRR gene orthologues are found in many vertebrates. Recent observations suggest that the human episodic ataxia 2 (EA2) and spinocerebellar ataxia types 6 (SCA6), 12 (SCA12), and 14 (SCA14) might be associated with impaired phosphorylation levels of cerebellum calcium channels and receptors. The concept that MAPK signaling is a key process in tuning synaptic plasticity in cerebellar circuits is now emerging, with numerous implications for understanding cerebellar functions and cerebellar disorders.Journal ArticleReviewSCOPUS: ar.jinfo:eu-repo/semantics/publishe
On D-modules related to the b-function and Hamiltonian flow
No full textLet f be a quasi-homogeneous polynomial with an isolated singularity in Cn . We compute the length of the D -modules Df/Df+1 generated by complex powers of f in terms of the Hodge filtration on the top cohomology of the Milnor fiber. When =−1 we obtain one more than the reduced genus of the singularity ( dimHn−2(Z,OZ) for Z the exceptional fiber of a resolution of singularities). We conjecture that this holds without the quasi-homogeneous assumption. We also deduce that the quotient Df/Df+1 is nonzero when is a root of the b -function of f (which Saito recently showed fails to hold in the inhomogeneous case). We obtain these results by comparing these D -modules to those defined by Etingof and the second author which represent invariants under Hamiltonian flow
RECIFE: Cinquante ans d'interprétation géographique
No full textA geographical approach to the town makes for a consensual vision of urban problems within the organisms responsable for planning. Consequently a certain importance must be attached to the analysis of this approach. The author identifies the key concepts which have counted in the geographical production concerning the town of Recife : urban landscape history of the town's development, town and country relationships in the regional context of the Nordeste. The analysis of works by three geographers from Pernambuco is completed by the analysis of a sociologist's approach to urban planning. These are confronted with the point of view of planners.Le discours géographique sur la ville contribue à l'élaboration d'une vision consensuelle des problèmes urbains au sein des organismes chargés de l'aménagement, d'où l'importance à accorder à l'analyse de ce discours. Le texte identifie les concepts-clés qui ont compté dans la production géographique concernant la ville de Recife : le paysage urbain, l'histoire du développement de la ville, les relations ville-campagne dans le contexte régional du Nordeste. L'analyse des ouvrages de trois géographes du Pernambuco est complétée par celle concernant l'approche de l'espace urbain d'un sociologue. Elles sont confrontées à la vision des aménageurs.Bitoun Jan, Grandjean Pernette. RECIFE: Cinquante ans d'interprétation géographique. In: Travaux de l'Institut Géographique de Reims, vol. 23-24, n°89-90, 1995. Le Brésil. Aspects sociaux, sous la direction de Pernette Grandjean. pp. 25-43
Comparative genetic analysis: the utility of mouse genetic systems for studying human monogenic disease.
No full textOne of the long-term goals of mutagenesis programs in the mouse has been to generate mutant lines to facilitate the functional study of every mammalian gene. With a combination of complementary genetic approaches and advances in technology, this aim is slowly becoming a reality. One of the most important features of this strategy is the ability to identify and compare a number of mutations in the same gene, an allelic series. With the advent of gene-driven screening of mutant archives, the search for a specific series of interest is now a practical option. This review focuses on the analysis of multiple mutations from chemical mutagenesis projects in a wide variety of genes and the valuable functional information that has been obtained from these studies. Although gene knockouts and transgenics will continue to be an important resource to ascertain gene function, with a significant proportion of human diseases caused by point mutations, identifying an allelic series is becoming an equally efficient route to generating clinically relevant and functionally important mouse models
The near and far: Hermeneutics of the cannibal in Jean de Léry
No full textJean de Léry belongs to the literary canon of the sixteenth century essentially for his, Histoire d'un voyage faict en la terre du Brésil. The objective of this study is to mark a distinct trajectory, aiming to bring out into the light Léry's other text, the Histoire memorable de la ville de Sancerre, published in 1574. I argue that the latter text engages and makes possible the writing of the Histoire d'un voyage sheds light on it. At the origin of this study, there is an enigma: Why did Léry wait twenty years to write his Histoire d'un voyage? What's more, why is this text so often reworked and revised? The world is changing, so too does the text, this text of Léry will remain open, it will be constantly revised during the life of the author and there will be no less than five distinct editions before Léry's death, in 1613. The reading of the Histoire memorable brings forth the essential question and the basis of this study: the question of the near and the far, the question of difference and alterity. There lies the cornerstone of the leryan architecture. Léry affirms in his preface that it is the Cosmographie of Thevet which engages and makes possible the writing of his Histoire d'un voyage. However, what he demonstrates and proves without any ambiguity in all editions of the Histoire d'un voyage , is the link between the two "Histoires" the "memorable" one of the city of Sancerre and the one of the "voyage" in the land of Brazil, in which the cannibal act is the thread that binds them, red thread from the blood of the sacrificed, red thread from the ink of Brazil
BERNSTEIN-SATO THEORY FOR SINGULAR RINGS IN POSITIVE CHARACTERISTIC
No full textThe Bernstein-Sato polynomial is an important invariant of an element or an ideal in a polynomial ring or power series ring of characteristic zero, with interesting connections to various algebraic and topological aspects of the singularities of the vanishing locus. Work of Mustaţă, later extended by Bitoun and the third author, provides an analogous Bernstein-Sato theory for regular rings of positive characteristic.
In this paper, we extend this theory to singular ambient rings in positive characteristic. We establish finiteness and rationality results for Bernstein-Sato roots for large classes of singular rings, and relate these roots to other classes of numerical invariants defined via the Frobenius map. We also obtain a number of new results and simplified arguments in the regular case
