Publications associées à Translocation robertsonienne

Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster

The HoxD cluster is critical for vertebrate limb development. Enhancers located in both the telomeric and centromeric gene deserts flanking the cluster regulate the transcription of HoxD genes. In rare patients, duplications, balanced translocations or inv ...

NATURE PUBLISHING GROUP2020

Histone Modifications in Development and Malignancy

Elisa Oricchio

Non-Hodgkin lymphoma (NHL) development is driven by the accumulations of multiple genetic, epigenetic, and chromosomal alterations. These lesions can lead to modifications of the chromatin architecture. To identify novel oncogenic interactions driven by mo ...

AMER SOC HEMATOLOGY2019

Fabrication and practical applications of molybdenum disulfide nanopores

Aleksandra Radenovic, Martina Lihter, Mukeshchand Thakur, Michael Graf, Ke Liu, Jiandong Feng

Among the different developed solid-state nanopores, nanopores constructed in a monolayer of molybdenum disulfide (MoS2) stand out as powerful devices for single-molecule analysis or osmotic power generation. Because the ionic current through a nanopore is ...

2019

DNA-segment-capture model for loop extrusion by structural maintenance of chromosome (SMC) protein complexes

Paolo De Los Rios, Alessandro Barducci

Cells possess remarkable control of the folding and entanglement topology of long and flexible chromosomal DNA molecules. It is thought that structural maintenance of chromosome (SMC) protein complexes play a crucial role in this, by organizing long DNAs i ...

2019

Geometrical Effect in 2D Nanopores

Aleksandra Radenovic, Andras Kis, Duncan Thomas Lindsay Alexander, Vasiliki Tileli, Martina Lihter, Ke Liu, Dumitru Dumcenco, Davide Deiana, Aditya Sarathy

A long-standing problem in the application of solid-state nanopores is the lack of the precise control over the geometry of artificially formed pores compared to the well-defined geometry in their biological counterpart, that is, protein nanopores. To date ...

American Chemical Society (ACS)2017

The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition

Nouchine Hadjikhani, Bogdan Draganski, Loyse Hippolyte, Borja Rodriguez Herreros

BACKGROUND: Deletions and duplications of the 16p11.2 BP4-BP5 locus are prevalent copy number variations (CNVs), highly associated with autism spectrum disorder and schizophrenia. Beyond language and global cognition, neuropsychological assessments of thes ...

Elsevier Science Inc2016

DNA Transport across the Outer and Inner Membranes of Naturally Transformable Vibrio cholerae Is Spatially but Not Temporally Coupled

Melanie Blokesch, Patrick Martin Seitz

The physiological state of natural competence for transformation allows certain bacteria to take up free DNA from the environment and to recombine such newly acquired DNA into their chromosomes. However, even though conserved components that are required t ...

American Society for Microbiology2014

Detecting the translocation of DNA through a nanopore using graphene nanoribbons

Aleksandra Radenovic, Andras Kis, Ke Liu, Daria Krasnozhon, Camille Alice Raillon, Floriano Traversi, Mohamed Malik Benameur, Sergey Khlybov

Solid-state nanopores can act as single-molecule sensors and could potentially be used to rapidly sequence DNA molecules. However, nanopores are typically fabricated in insulating membranes that are as thick as 15 bases, which makes it difficult for the de ...

Nature Publishing Group2013

DNA Trans location through Low-Noise Glass Nanopores

Aleksandra Radenovic, Lorenz Jan Steinbock, Roman Bulushev, Camille Alice Raillon, Swati Krishnan

The effect of electron irradiation-induced shrinking on glass nanocapillaries with diameters ranging from 75 to 14 nm was analyzed by measuring the conductance characteristics with and without DNA translocation. We have investigated nanocapillary shrinking ...

American Chemical Society2013

Controlled Exchange of Chromosomal Arms Reveals Principles Driving Telomere Interactions in Yeast

Michaël Unser, Daniel Sage

The 32 telomeres in the budding yeast genome cluster in three to seven perinuclear foci. Although individual telomeres and telomeric foci are in constant motion, preferential juxtaposition of some telomeres has been scored. To examine the principles that g ...

Cold Spring Harbor Laboratory Press2008