Search results for " Genetica"

Could growth hormone play a role in Peutz Jeghers syndrome?

2013

Convincing experimental data suggest that the growth hormone (GH)/insulin-like growth factor-1(IGF-1) axis plays an important role in cancer development and behaviour. Epidemiological studies have supported an association with cancer, but not with tumour induction per se, although this is a distinction that is important mechanistically but not clinically [1]. We report the case of a 17-year-old man with delayed growth of pituitary origin, treated with growth hormone, in whom a diagnosis of Peutz-Jeghers syndrome (PJS) was subsequently made, and in whom, during the endoscopic follow-up, the number of polyps reduced dramatically, thus suggesting a role for GH in eliciting this disease.

Hematopoietic Stem Cell Mobilization for Gene Therapy: The Combination of G-CSF+Plerixafor in Patients with Beta-Thalassemia Major Provides High Yiel…

2015

Abstract Hematopoietic stem cell engineering is a promising therapy to cure b-thalassemia, in particular for patients who lack a suitable BM donor for allogeneic transplantation. Since the engrafted gene-corrected stem cells will not have any selective advantage over the unmodified ones, the effectiveness of the therapy in this setting largely depends on the infusion of high numbers of gene-modified cells and on the conditioning regimen. The quality of the infused cells is also crucial for the clinical outcome and the duration of the therapeutic effect. HSPCs mobilization, particularly when G-CSF and plerixafor are used in combination, has been proved to be the optimal approach to harvest a…

THAP11 and HP1BP3 proteins are component of the HB-2.8 enhancer-blocker located in the human c-MYC chromatin domain.

2011

Flavonoid metabolism and gene expression in developing olive (Olea europaea L.) fruit.

2012

The expression pattern of six genes (phenylalanine-ammonia-lyase, PAL, chalcone synthase, CHS, flavanone 3-hydroxylase, F3H, dihydroflavonol 4-reductase, DFR, anthocyanidin synthase, ANS, UDP-gluco...

Metabolomics approach to studying minimally processed peach (Prunus persica) fruit

2012

Fresh-cut fruit products for both retail and food service applications have increasingly appeared in the market place in recent years. Among different fruit types, peaches can be used and are highly appreciated as fresh-cut product although their commercial success is limited due to their short shelf-life and the quick onset of wounding-related physiological reactions. In this work we analyzed the technological and physiological changes induced by fresh-cut preparation in three different types of peach cultivars: 'Fayette' (melting), 'Wilhelmina' (non-melting) and 'Ghiaccio3' (stony hard). We performed a metabolite targeting profiling to focus on the changes in organic acid levels, importan…

Epigenetic involvement in Hutchinson-Gilford progeria syndrome: a mini-review.

2013

Hutchinson-Gilford progeria syndrome (HGPS) is a rare human genetic disease that leads to a severe premature ageing phenotype, caused by mutations in the <i>LMNA</i> gene. The <i>LMNA</i> gene codes for lamin-A and lamin-C proteins, which are structural components of the nuclear lamina. HGPS is usually caused by a de novo <i>C1824T</i> mutation that leads to the accumulation of a dominant negative form of lamin-A called progerin. Progerin also accumulates physiologically in normal ageing cells as a rare splicing form of lamin-A transcripts. From this perspective, HGPS cells seem to be good candidates for the study of the physiological mechanisms of ageing…

A ceRNA analysis on LMNA gene focusing on the Hutchinson-Gilford progeria syndrome

2013

Background: Hutchinson-Gilford progeria syndrome is a rare dominant human disease of genetic origin. The average life expectancy is about 20 years, patients’ life quality is still very poor and no efficient therapy has yet been developed. It is caused by mutation of the LMNA gene, which results in accumulation in the nuclear membrane of a particular splicing form of Lamin-A called progerin. The mechanism by which progerin perturbs cellular homeostasis and leads to the symptoms is still under debate. Micro-RNAs are able to negatively regulate transcription by coupling with the 3’ UnTranslated Region of messenger RNAs. Several Micro-RNAs recognize the same 3’ UnTranslated Region and each Micr…

Investigating REPAIRv2 as a Tool to Edit CFTR mRNA with Premature Stop Codons

2020

Cystic fibrosis (CF) is caused by mutations in the gene encoding the transmembrane conductance regulator (CFTR) protein. Some CF patients are compound heterozygous or homozygous for nonsense mutations in the CFTR gene. This implies the presence in the transcript of premature termination codons (PTCs) responsible for a truncated CFTR protein and a more severe form of the disease. Aminoglycoside and PTC124 derivatives have been used for the read-through of PTCs to restore the full-length CFTR protein. However, in a precision medicine framework, the CRISPR/dCas13b-based molecular tool &ldquo

Light induces expression of a dehydrin-encoding gene during seedling de-etiolation in sunflower (Helianthus annus L.)

2007

The effects of light quality on the expression of a sunflower dehydrin-encoding gene, HaDhn1, were studied during seedling de-etiolation. Seeds were germinated in the dark and, after 5 days, seedlings were maintained well watered and de-etiolated under different lights for 3, 6, 12, and 24h. Exposure to white light stimulated HaDhn1 transcript accumulation in the cotyledons of these seedlings, contrary to seedlings grown in the dark. HaDhn1 transcripts increased also treating plantlets with monochromatic lights, especially red light. The increase of HaDhn1 transcripts is provoked by the formation of the active form of phytochrome. Further experiments, performed saturating active phytochrome…

12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.

2022

Interstitial deletions of the long arm of chromosome 12 are rare, with a dozen patients carrying a deletion in 12q21 being reported. Recently a critical region (CR) has been delimited and could be responsible for the more commonly described clinical features, such as developmental delay/intellectual disability, congenital genitourinary and brain malformations. Other, less frequent, clinical signs do not seem to be correlated to the proposed CR. We present seven new patients harboring non-recurrent deletions ranging from 1 to 18.5 Mb differentially scattered across 12q21. Alongside more common clinical signs, some patients have rarer features such as heart defects, hearing loss, hypotonia an…