Publications related to Rett syndrome

Sequential and directional insulation by conserved CTCF sites underlies the Hox timer in stembryos

Denis Duboule, Lucille Delisle, Alexandre Gauthier Aurèle Mayran, Hocine Rekaik, Aurélie Hintermann, Célia Corinne Renée Bochaton

Temporal activation of Hox genes in mouse pseudo-embryos in vitro initiates at the anterior part of the cluster and is accompanied by asymmetric loading of cohesin. Posterior CTCF sites then successively act as transient insulators, regulating the timed tr ...

NATURE PORTFOLIO2023

Investigating the deregulation of metabolic tasks via Minimum Network Enrichment Analysis (MiNEA) as applied to nonalcoholic fatty liver disease using mouse and human omics data

Vassily Hatzimanikatis, Vikash Kumar Pandey

Nonalcoholic fatty liver disease (NAFLD) is associated with metabolic syndromes spanning a wide spectrum of diseases, from simple steatosis to the more complex nonalcoholic steatohepatitis. To identify the deregulation that occurs in metabolic processes at ...

2019

Required growth facilitators propel axon regeneration across complete spinal cord injury

Grégoire Courtine, Mark Andrew Anderson, Nicholas David James, Cheng Wang, Sabry Leonardo Barlatey, Michael V. Sofroniew, Zhigang He

Transected axons fail to regrow across anatomically complete spinal cord injuries (SCI) in adults. Diverse molecules can partially facilitate or attenuate axon growth during development or after injury1,2,3, but efficient reversal of this regrowth failure ...

2018

Efficient inference for genetic association studies with multiple outcomes

Anthony Christopher Davison, Jörg Hager, Hélène Ruffieux

Combined inference for heterogeneous high-dimensional data is critical in modern biology, where clinical and various kinds of molecular data may be available from a single study. Classical genetic association studies regress a single clinical outcome on ma ...

Oxford University Press2017

Glycation potentiates α-synuclein-associated neurodegeneration in synucleinopathies

Hilal Lashuel, Magdalena Zweckstetter, Michael Heinrich

α-Synuclein misfolding and aggregation is a hallmark in Parkinson's disease and in several other neurodegenerative diseases known as synucleinopathies. The toxic properties of α-synuclein are conserved from yeast to man, but the precise underpinnings of th ...

Oxford University Press2017

Clobetasol propionate causes immunosuppression in zebrafish (Danio rerio) at environmentally relevant concentrations

Kristin Schirmer, Anita Orsolya Hidasi

Synthetic glucocorticoids (GCs) are potential endocrine disrupting compounds that have been detected in the aquatic environment around the world in the low ng/L (nanomolar) range. GCs are used as immunosuppressants in medicine. It is of high interest wheth ...

Elsevier2017

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

Bart Deplancke, Marion Leleu, Nele Gheldof, Loyse Hippolyte

Copy number variants (CNVs) are major contributors to genomic imbalance disorders. Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal 16p11.2 220 kb BP2-BP3 interval showed that these rearrangements are associated with ...

Springer Nature2017

WDR79/TCAB1 plays a conserved role in the control of locomotion and ameliorates phenotypic defects in SMA models

Brian Donal McCabe

SMN (Survival Motor Neuron) deficiency is the predominant cause of spinal muscular atrophy (SMA), a severe neurodegenerative disorder that can lead to progressive paralysis and death. Although SMN is required in every cell for proper RNA metabolism, the re ...

Academic Press Inc Elsevier Science2017

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Rett syndrome

CDKL5 sculpts functional callosal connectivity to promote cognitive flexibility

Sequential and directional insulation by conserved CTCF sites underlies the Hox timer in stembryos

MeCP2-E1 isoform is a dynamically expressed, weakly DNA-bound protein with different protein and DNA interactions compared to MeCP2-E2

Investigating the deregulation of metabolic tasks via Minimum Network Enrichment Analysis (MiNEA) as applied to nonalcoholic fatty liver disease using mouse and human omics data

Required growth facilitators propel axon regeneration across complete spinal cord injury

Efficient inference for genetic association studies with multiple outcomes

Glycation potentiates α-synuclein-associated neurodegeneration in synucleinopathies

Clobetasol propionate causes immunosuppression in zebrafish (Danio rerio) at environmentally relevant concentrations

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

WDR79/TCAB1 plays a conserved role in the control of locomotion and ameliorates phenotypic defects in SMA models

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Chat with Graph Search

CDKL5 sculpts functional callosal connectivity to promote cognitive flexibility

Glycation potentiates α-synuclein-associated neurodegeneration in synucleinopathies

Required growth facilitators propel axon regeneration across complete spinal cord injury

Sequential and directional insulation by conserved CTCF sites underlies the Hox timer in stembryos

Investigating the deregulation of metabolic tasks via Minimum Network Enrichment Analysis (MiNEA) as applied to nonalcoholic fatty liver disease using mouse and human omics data

Efficient inference for genetic association studies with multiple outcomes

Clobetasol propionate causes immunosuppression in zebrafish (Danio rerio) at environmentally relevant concentrations

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

WDR79/TCAB1 plays a conserved role in the control of locomotion and ameliorates phenotypic defects in SMA models

MeCP2-E1 isoform is a dynamically expressed, weakly DNA-bound protein with different protein and DNA interactions compared to MeCP2-E2