Concept

Syndrome de l'X fragile

Publications associées (14)

A pan-cancer classification based on fmrp pathway activity that informs differential prognosis and therapeutic responses

The present invention relates to methods and compositions which provide a companion diagnostic for cancer therapy. A method for identifying and stratifying a patient or group of patients with cancer as (i) being high or low for FMRP activity, (ii) having a ...

2022

Method for determining cancer invasiveness and patient prognosis

Douglas Hanahan, Leanne Li

A method for determining the prognosis for survival of a patient having cancer is disclosed, said cancer being altered (i.e. highly activated or alternatively inactive/inhibited) in the NMDAR signalling pathway, said method comprising determining the expre ...

2019

EEG signatures of schizophrenia: visual backward masking and microstates

Janir Nuno Ramos Antunes Da Cruz

Schizophrenia is a complex and devastating mental disorder that influences how one behaves, feels, and thinks. It affects a little less than 1 % of the world population and it is understood to be partly genetically mediated. Several genetic risk factors of ...

EPFL2019

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

Identification of novel PCTAIRE-1/CDK16 substrates using a chemical genetic screen

Kei Sakamoto, Maria Deak, Caterina Collodet

PCTAIRE-1 (also known as cyclin-dependent protein kinase (CDK) 16), is a Ser/Thr kinase that has been implicated in many cellular processes, including cell cycle, spermatogenesis, neurite outgrowth, and vesicle trafficking. Most recently, it has been propo ...

2019

Endophenotypes of schizophrenia: electrophysiological correlates

Michael Herzog, Christine Mohr, Maya Roinishvili, Ophélie Gladys Favrod

Endophenotypes are of crucial interest for schizophrenia research linking genetic abnormalities to pathology. During the last NCCR period, we have characterized one endophenotype, based on visual backward masking deficits, behaviourally and genetically (po ...

2014

Encoding metaknowledge for historical databases

Frédéric Kaplan

Historical knowledge is fundamentally uncertain. A given account of an historical event is typically based on a series of sources and on sequences of interpretation and reasoning based on these sources. Generally, the product of this historical research ta ...

2014

A NEW APPROACH FOR CEREBELLO-THALAMIC MOTOR NETWORK EVALUATION IN ASYMPTOMATIC PREMUTATION CARRIERS AT RISK FOR FXTAS

Meritxell Bach Cuadra, Elena Najdenovska, Naghmeh Ghazaleh

Fragile-X tremor/ataxia syndrome (FXTAS) is a late onset movement disorder affecting FMR1 premutation carriers. In our recent work (Battistella et al., 2013, ) we demonstrated a unique pattern of preclinical changes in young asymptomatic carriers involving ...

2013

Characterization of sustained BOLD activation in the rat barrel cortex and Neurochemical consequences

Rolf Gruetter, Lijing Xin, Nathalie Just, Hanne Frenkel

To date, only a couple of functional MR spectroscopy (fMRS) studies were conducted in rats. Due to the low temporal resolution of 1H-MRS techniques, prolonged stimulation paradigms are necessary for investigating the metabolic outcome in the rat brain duri ...

Elsevier2013

Epigenetic Modification of the FMR1 Gene in Fragile X Syndrome Is Associated with Differential Response to the mGluR5 Antagonist AFQ056

Nouchine Hadjikhani, Fei Chen

Fragile X syndrome (FXS) is an X-linked condition associated with intellectual disability and behavioral problems. It is caused by expansion of a CGG repeat in the 5' untranslated region of the fragile X mental retardation 1 (FMR1) gene. This mutation is a ...

2011

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