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CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait
TLDR
The findings underline the importance of ITP-mediated signaling in cerebellar function and provide suggestive evidence that congenital ataxia paired with cerebral dysfunction may, together with unknown contextual factors during development, predispose to quadrupedal gait in humans. Expand
Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity
TLDR
A comprehensive and quantitative analysis of TGFBR2 expression, turnover and TGF-β-induced Smad and ERK signaling activity for nine mutations identified in patients with LDS, MFS2 and TAAD suggests that the balance between defects inSmad andERK signaling might be an important determinant of phenotypic severity in disorders related to mutations in TGF BR2. Expand
Constitutive and ligand-induced EGFR signaling triggers distinct and mutually exclusive downstream signaling networks
TLDR
It is reported that the overexpressed EGFR oscillates between two distinct and mutually exclusive modes of signaling, and evidence for non-canonical EGFR signaling in glioblastoma is provided. Expand
MicroRNAs Differentially Expressed in Postnatal Aortic Development Downregulate Elastin via 3′ UTR and Coding-Sequence Binding Sites
TLDR
It is suggested thatMiR-29 and miR-15 family miRNAs are involved in the down-regulation of elastin in the adult aorta because of their overrepresentation in extracellular matrix genes. Expand
A short ultraconserved sequence drives transcription from an alternate FBN1 promoter.
TLDR
It is suggested that the ultraconservation may reflect the importance of finely tuned regulation of alternate transcription of FBN1 and that the sequences involved have been under negative selective pressure for at least the last 180 million years of mammalian evolution. Expand
Ligand-Independent EGFR Signaling.
TLDR
L ligand-independent EGFR signal transduction by oncogenic EGFR mutants and EGFRwt is discussed, and the interplay between EG FRwt and EG FRvIII is reviewed. Expand
A fibrillin-1-fragment containing the elastin-binding-protein GxxPG consensus sequence upregulates matrix metalloproteinase-1: biochemical and computational analysis.
TLDR
It is shown that a fibrillin-1 fragment containing a EGFEPG sequence that conforms to a putative GxxPG elastin-binding protein (EBP) consensus sequence upregulates the expression and production of matrix metalloproteinase (MMP)-1 by up to ninefold in a cell culture system. Expand
TNF-driven adaptive response mediates resistance to EGFR inhibition in lung cancer
TLDR
Concomitant EGFR and TNF inhibition is suggested as a potentially new treatment approach that could be beneficial for a majority of lung cancer patients. Expand
Induction of Macrophage Chemotaxis by Aortic Extracts from Patients with Marfan Syndrome Is Related to Elastin Binding Protein
TLDR
It is demonstrated that aortic extracts of patients with Marfan syndrome can elicit macrophage chemotaxis, similar to the previous study on aorti extracts of the mgR mouse model of Marfan Syndrome. Expand
Integrative analysis of genomic, functional and protein interaction data predicts long-range enhancer-target gene interactions
TLDR
This study shows that functional similarities between enhancer binding proteins and their transcriptional targets and proximity in the protein–protein interactome improve prediction of target genes, and represents a first step in integrating various genomic features in order to elucidate the genomic network of long-range regulatory interactions. Expand
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