711 research outputs found
ETV6 (ets variant 6)
The ETV6 gene located at band 12p13 encodes a protein containing two major domains, the HLH (helix-loop-helix) domain, encoded by exons 3 and 4, and the ETS domain, encoded by exons 6 through 8, with in between the internal domain encoded by exon 5. ETV6 is a strong transcriptional repressor, acting through its HLH and internal domains. Five potential mechanisms of ETV6-mediated carcinogenesis have been identified: constitutive activation of the kinase activity of the partner protein, modification of the original functions of a transcription factor, loss of function of the fusion gene, affecting ETV6 and the partner gene, activation of a proto-oncogene in the vicinity of a chromosomal translocation and dominant negative effect of the fusion protein over transcriptional repression mediated by wild-type ETV6. Thirty-three ETV6 partner genes have been identified
t(9;12)(q34;p13) ETV6/ABL1
Review on t(9;12)(q34;p13) ETV6/ABL1, with data on clinics, and the genes implicated
t(3;12)(q26;p13) ETV6/MECOM - t(3;12)(q26;p13) ETV6/EVI1
Short communication on t(3;12)(q26;p13) ETV6/MECOM, with data on clinics, and the genes implicated
t(12;13)(p13;q12) ETV6/FLT3
Review on t(12;13)(p13;q12) ETV6/FLT3 , with data on DNA, on the protein encoded, and where the gene is implicated
Using Bacterial Artificial Chromosomes in Leukemia Research: The Experience at the University Cytogenetics Laboratory in Brest, France
The development of the bacterial artificial chromosome (BAC) system was driven in part by the human genome project in order to construct genomic DNA libraries and physical maps for genomic sequencing. The availability of BAC clones has become a valuable tool for identifying cancer genes. We report here our experience in identifying genes located at breakpoints of chromosomal rearrangements and in defining the size and boundaries of deletions in hematological diseases. The methodology used in our laboratory consists of a three-step approach using conventional cytogenetics followed by FISH with commercial probes, then BAC clones. One limitation to the BAC system is that it can only accommodate inserts of up to 300âkb. As a consequence, analyzing the extent of deletions requires a large amount of material. Array comparative genomic hybridization (array-CGH) using a BAC/PAC system can be an alternative. However, this technique has limitations also, and it cannot be used to identify candidate genes at breakpoints of chromosomal rearrangements such as translocations, insertions, and inversions
Pascale-Sophie Kaparis
Pascale-Sophie Kaparis est nĂ©e Ă Casablanca (Maroc) en 1959. Elle vit et travaille Ă Paris. Pascale-Sophie Kaparis a frĂ©quentĂ© rĂ©guliĂšrement le Centre de la gravure de la LouviĂšre durant les annĂ©es 2012 et 2013. Elle y a dĂ©veloppĂ© et approfondi un projet artistique intitulĂ© Eye Project quâelle avait initiĂ© lors dâune prĂ©cĂ©dente rĂ©sidence au musĂ©e du Dessin et de lâEstampe originale Ă Gravelines, suite Ă sa dĂ©couverte dâHomely Girl, A life, livre dâartiste, dont le texte dâArthur Miller est il..
Christiane Baumgartner
Christiane Baumgartner est nĂ©e en 1967 Ă Leipzig. Cette artiste donne Ă la gravure sur bois, son mĂ©dium de prĂ©dilection, une modernitĂ© exceptionnelle, dâune part en creusant exclusivement ses matrices par des tailles horizontales, dâautre part en travaillant sur des formats monumentaux, certaines de ses Ćuvres frĂŽlant les 4 mĂštres de longueur ou 3 mĂštres de hauteur. Son attirance pour la vitesse et le mouvement, sujet principal de tout son travail, sâaccompagne dâune dĂ©marche fondĂ©e sur la ca..
Homogénéité ou diversité? L'histoire de la population du Québec revue à travers ses gÚnes
The present study uses the most recent results from research in molecular genetics
to put into new perspectives some interpretations of the history of the francophone
population of Quebec since the 17th century. It is now well known that since its origins,
this population, as a whole, was characterized by a significant degree of cultural
homogeneity (language, religion, etc.). Progressively, the common wisdom came to
presume that this population was also biologically homogeneous, this view allegedly
being supported by the high incidence of a few hereditary disorders, some of them quite
specific to the French-Canadian population. However, such hypothesis is not corroborated
by the results of the molecular studies conducted so far. On the contrary, it
appears that this population is genetically diversified.
These results call for a re-examination ofthe historiographical models accounting
for the origins and the evolution ofthe French-speaking population of Quebec.Cet article prend à témoin les résultats les plus récents des recherches de génétique
moléculaire au Québec pour situer dans une nouvelle perspective quelques interprétations
de l'histoire de la population francophone québécoise depuis le 17e siÚcle. Il est maintenant
bien établi que cette population s'est caractérisée dÚs le départ par de forts
éléments d'homogénéité sous le rapport de la culture (langue, religion, coutumes...). Peu
à peu, l'opinion courante en a inféré une présomption d'homogénéité biologique que
semblait valider la forte incidence de certaines maladies héréditaires spécifiques à la
population canadienne-française. Cette présomption est toutefois démentie par les
rĂ©sultats de quelques enquĂȘtes de gĂ©nĂ©tique molĂ©culaire qui tendent plutĂŽt Ă accrĂ©diter
l'hypothĂšse contraire.
Ces données invitent à considérer sous un nouvel éclairage les modÚles
historiographiques rendant compte de la mise en place et de l'Ă©volution de la population
francophone du Québec
t(6;20)(q13;q12) LMBRD1/CHD6
Short communication on t t(6;20)(q13;q12) LMBRD1/CHD6, with data on clinics, and the genes implicated
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