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Alteration of lipids and the transcription of lipid-related genes in myelodysplastic syndromes via a TP53-related pathway.

artículo científico publicado en 2012

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome

artículo científico publicado en 2012

Extrahepatic cholangiocyte obstruction is mediated by decreased glutathione, Wnt and Notch signaling pathways in a toxic model of biliary atresia

scientific article published on 05 May 2020

Familial hydrocephalus with normal cognition and distinctive radiological features

article

Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2.

artículo científico publicado en 2013

Microcephaly-thin corpus callosum syndrome maps to 8q23.2-q24.12.

artículo científico publicado en 2012

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.

artículo científico publicado en 2011

SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system

artículo científico publicado en 2010

The Wnt/β-catenin pathway determines the predisposition- and the efficiency of liver to pancreas reprogramming.

artículo científico publicado en 2018

X-linked mental retardation with alacrima and achalasia-Triple A syndrome or a new syndrome?

artículo científico publicado en 2011

apoB and apobec1, two genes key to lipid metabolism, are transcriptionally regulated by p53.

artículo científico publicado en 2010

eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation

artículo científico publicado en 2012

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