Publications associées à Do RET somatic mutations play a role in Hirschsprung disease? Response

Publications associées (10)

Towards a physical understanding of developmental patterning

The temporal coordination of events at cellular and tissue scales is essential for the proper development of organisms, and involves cell-intrinsic processes that can be coupled by local cellular signalling and instructed by global signalling, thereby crea ...

NATURE RESEARCH2021

Mouse Systems Genetics as a Prelude to Precision Medicine

Johan Auwerx, Hao Li

Mouse models have been instrumental in understanding human disease biology and proposing possible new treatments. The precise control of the environment and genetic composition of mice allows more rigorous observations, but limits the generalizability and ...

2020

cis-regulatory variation modulates susceptibility to enteric infection in the Drosophila genetic reference panel

Bart Deplancke, Maroun Bou Sleiman, Vincent Roland Julien Gardeux, Riccardo Dainese, Maria Litovchenko, Michael Vincent Frochaux, Dani Osman, Brian Dennis Hollis, Virginie Sandra Braman

Background: Resistance to enteric pathogens is a complex trait at the crossroads of multiple biological processes. We have previously shown in the Drosophila Genetic Reference Panel (DGRP) that resistance to infection is highly heritable, but our understan ...

2020

On the prediction of DNA-binding preferences of C2H2-ZF domains using structural models: application on human CTCF

Jaume Bonet Martinez

Cis2-His2 zinc finger (C2H2-ZF) proteins are the largest family of transcription factors in human and higher metazoans. To date, the DNA-binding preferences of many members of this family remain unknown. We have developed a computational method to predict ...

OXFORD UNIV PRESS2020

Rare variants in antiviral response genes drive severe viral respiratory infections in children

Jacques Fellay, Dylan Lawless, Samira Asgari

NATURE PUBLISHING GROUP2019

Allele-specific gene disruption through discrimination of a single base change by S. aureus Cas9-KKH prevents progressive hearing loss after AAV-mediated gene delivery

Bernard Schneider, Paola Andrea Solanes Vega, Sofia Carmen Suzanne Spataro

MARY ANN LIEBERT, INC2019

Genome-to-genome analysis of Epstein-Barr virus infection

Jacques Fellay, Christian Hammer

NATURE PUBLISHING GROUP2019

Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies

Daniel Francis Schorderet

Human transforming growth factor beta-induced (TGFBI), is a gene responsible for various corneal dystrophies. TGFBI produces a protein called TGFBI, which is involved in cell adhesion and serves as a recognition sequence for integrins. An alteration in cel ...

2019

Role of OCT4 in establishing and maintaining chromatin architecture during stem cell self-renewal

David Michael Suter, Subashika Govindan

MARY ANN LIEBERT, INC2018

Retroelements, their polydactyl controllers and the specificity of human biology

Didier Trono

MARY ANN LIEBERT, INC2018