1,721,002 research outputs found
Sindrome di Glicosilazione di tipo CDG-Ig: analisi molecolare del gene ALG12 in una famiglia sarda
No full textSindrome congenita di glicosilazione di tipo CDG-IG:analisi molecolare del gene ALG12 in una famiglia sarda
No full textA novel pattern of uridine diphosphate glucuronosyltransferase polymorphisms associated with hyperbilirubinemia during nilotinib treatment
No full text"Un polimorfismo dell'esone 15 del gene CFTR genera un trascritto anomalo in un paziente affetto da Fibrosi Cistica"
No full textLo stato immunitario nel carcinoma colo-rettale in rapporto alla stadiazione, al grado di differenziazione ed alla prognosi. Considerzioni su 27 casi
No full text"A synonimous mutation in the CFTR gene causes an aberrant splicing in an Italian patients effected by Cystic Fibrosis"
No full textNew mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy
No full textJeune asphyxiating thoracic dystrophy (JATD; Jeune syndrome, MIM 208500) is a rare autosomal recessive chondrodysplasia, phenotypically overlapping with short-rib polydactyly syndromes (SRPS). JATD typical hallmarks include skeletal abnormalities such as narrow chest, shortened ribs, limbs shortened bones, extra fingers and toes (polydactyly), as well as extraskeletal manifestations (renal, liver and retinal disease). To date, disease-causing mutations have been found in several genes, highlighting a marked genetic heterogeneity that prevents a molecular diagnosis of the disease in most families.Here, we report the results of whole-exome sequencing (WES) carried out in four JATD cases, belonging to three unrelated families of Sardinian origin. The exome analysis allowed to identify mutations not previously reported in the DYNC2H1 (MIM 603297) and WDR60 (MIM 615462) genes, both codifying for ciliary intraflagellar transport components whose mutations are known to cause Jeune syndrom
Aspetti immunologici nei tossicodipendenti anti-HIV sieronegativi. Correlazione con la durata di assunzione dell’eroina e con altre infezioni virali
No full textImmunological aspects in anti-HIV seronegative drug addicts. Correlation with the duration of heroin addiction and other viral infections
No full textA synonymous mutation in the CFTR gene causes an aberrant splicing in an Italian patient affected by a mild form of cystic fibrosis
No full textMutations within exons are responsible for aberrant splicing of
pre-mRNA in several human disease genes and in some viral systems.
Nonsense, missense, and even synonymous mutations can induce aberrant
skipping of the mutant exon, producing nonfunctional proteins. In this
paper, we describe the effect on the splicing efficiency of the
synonymous variant 2811 G>T [Gly893Gly] detected in a patient of Italian
descent affected by a mild form of cystic fibrosis, until now mentioned
as sequence variation with unknown functional consequences. The study,
performed through DNA as well as RNA analyses, shows that this mutation
creates a new 5′ splice site within exon 15, resulting in a
transcript lacking 76 amino acid residues. Although this aberrant
splicing causes a shorter exon 15, the downstream exonic sequence from
exon 16 to the end of the open reading frame is in frame. This study
indicates that apparently neutral polymorphism, which may be erroneously
classified as nonpathogenic, may indeed led to aberrant splicing thereby
resulting in defective protein
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