• Non ci sono risultati.

1. AIMS OF THE STUDY

N/A
N/A
Protected

Academic year: 2021

Condividi "1. AIMS OF THE STUDY"

Copied!
1
0
0

Testo completo

(1)

1. AIMS OF THE STUDY

CHD occurs through heterogeneous and complex processes. Multiple genetic and molecular mechanisms, involving mutations in genes critical for cardiac morphogenesis as well as dysregulation of the post-transcriptional control, may play a crucial role.

The overall goal of this thesis was to expand the knowledge of CHD pathogenesis in order to improve the genetic counseling as well as to identify potential targets for new therapeutic approaches.

Specific aims were:

1. to investigate the presence of both somatic and germline mutations in GATA4 and NKX2.5 genes;

2. to evaluate if the presence of genetic variants in the 3’UTR of GATA4 and NKX2.5 genes can alter the binding with specific microRNAs and influence the post-transcriptional control;

3. to analyze the association between SNPs and haplotypes in the 3’UTR of the GATA4 gene and CHD risk;

4. to investigate the presence of novel rare mutations in 17 genes related to CHD by using a next generation sequencing technology in selected CHD patients.

Riferimenti

Documenti correlati

point to the midpoint of the root bifurcation; LL7 – longitudinal axis of the lower left second molar is traced from the midocclusal point to the midpoint of the root bifurcation;

Bold values indicate a statistical difference between left and right legs and between affected and unaffected legs in the same condition (straight, counterclockwise or

system of adiponectin (ADN), an insulin-sensitizing and anti- inflammatory adipokine, in tissues known to be the target of chronic diseases associated to obesity

CONCLUSIONS Our model of chronic renal failure in the rats demonstrates as the functional impairment at renal level correlates with alteration of BDNF levels in

The acquisition of a vancomycin reduced susceptible phenotype is a multifactorial event and it has been linked to several abnormal physiological

sapere quale di loro prevarrà: “L’attesa, che è di per sé necessaria all’Interessierend, è più grande nella lotta di due passioni piuttosto che in una passione soltanto.

Regarding the type of quality certification scheme the farm businesses selects, the study findings reveal that: (i) policy-directed certification is a valid means by which to

Osservando lo Score Plot della PCA condotta sulla composizione, in termini di classi di congeneri di PCB, dei campioni di sedimento superficiale e di suolo analizzati, si osserva la