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List of works by Cristiana Stuani

A new type of mutation causes a splicing defect in ATM.

scientific article published on 11 March 2002

An intronic polypyrimidine-rich element downstream of the donor site modulates cystic fibrosis transmembrane conductance regulator exon 9 alternative splicing

scientific article published on 13 February 2004

BRCA1 exon 11 a model of long exon splicing regulation

scientific article published on 18 March 2014

Cellular model of TAR DNA-binding protein 43 (TDP-43) aggregation based on its C-terminal Gln/Asn-rich region

scientific article published on 10 January 2012

Dual role of G-runs and hnRNP F in the regulation of a mutation-activated pseudoexon in the fibrinogen gamma-chain transcript

scientific article

Evolutionarily conserved heterogeneous nuclear ribonucleoprotein (hnRNP) A/B proteins functionally interact with human and Drosophila TAR DNA-binding protein 43 (TDP-43).

scientific article published on 03 February 2014

Evolutionary connections between coding and splicing regulatory regions in the fibronectin EDA exon

scientific article published in June 2011

Expression of tumor-promoting Cyr61 is regulated by hTRA2-β1 and acidosis

scientific article

Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents

scientific article published on 22 October 2013

Major hnRNP proteins act as general TDP-43 functional modifiers both in Drosophila and human neuronal cells

scientific article published on 31 May 2017

Misregulation of human sortilin splicing leads to the generation of a nonfunctional progranulin receptor

scientific article published on 10 December 2012

Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9.

scientific article published on 5 May 2003

Molecular basis of UG-rich RNA recognition by the human splicing factor TDP-43

scientific article

New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12.

scientific article published in May 2003

Nuclear factor TDP-43 can affect selected microRNA levels

scientific article

Polypyrimidine tract binding protein regulates alternative splicing of an aberrant pseudoexon in NF1.

scientific article

Predominance of spliceosomal complex formation over polyadenylation site selection in TDP-43 autoregulation

scientific article published on 24 December 2013

SR protein-mediated inhibition of CFTR exon 9 inclusion: molecular characterization of the intronic splicing silencer

scientific article published on 18 June 2007

TDP-43 functions within a network of hnRNP proteins to inhibit the production of a truncated human SORT1 receptor

scientific article published on 27 November 2015

The secondary structure of the human immunodeficiency virus type 1 transcript modulates viral splicing and infectivity

scientific article