Search Results - "Falzarano, S"
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RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing
Published in HGG advances (13-01-2022)“…Urinary stem cells (USCs) are a non-invasive, simple, and affordable cell source to study human diseases. Here we show that USCs are a versatile tool for…”
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A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies
Published in BMC genomics (28-11-2008)“…The commonest pathogenic DMD changes are intragenic deletions/duplications which make up to 78% of all cases and point mutations (roughly 20%) detectable…”
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Mapping moderate-scale land-cover over very large geographic areas within a collaborative framework: A case study of the Southwest Regional Gap Analysis Project (SWReGAP)
Published in Remote sensing of environment (15-05-2007)“…Land-cover mapping efforts within the USGS Gap Analysis Program have traditionally been state-centered; each state having the responsibility of implementing a…”
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Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype
Published in BMC genetics (16-08-2012)“…Although Duchenne and Becker muscular dystrophies, X-linked recessive myopathies, predominantly affect males, a clinically significant proportion of females…”
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Dystrophin restoration in skeletal, heart and skin arrector pili smooth muscle of mdx mice by ZM2 NP-AON complexes
Published in Gene therapy (01-03-2010)“…Potentially viable therapeutic approaches for Duchenne muscular dystrophy (DMD) are now within reach. Indeed, clinical trials are currently under way. Two…”
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Nociceptin/orphanin FQ stimulates human monocyte chemotaxis via NOP receptor activation
Published in Peptides (New York, N.Y. : 1980) (01-08-2005)“…Nociceptin/orphanin FQ (N/OFQ) produces several biological actions by activating the N/OFQ peptide receptor (NOP). It has been previously shown that N/OFQ…”
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Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice
Published in Nature medicine (01-09-2014)“…A novel internal ribosomal entry site in the 5' end of the dystrophin gene allows for expression of a form of the protein that could be therapeutic for certain…”
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Novel biomarkers and genomic tests in prostate cancer: a critical analysis
Published in Minerva urologica e nefrologica = The Italian journal of urology and nephrology (01-09-2015)“…The aim of this review is to critically analyze the current state of research in selected biomarkers and genomic-based tests for prostate cancer (PCa)…”
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G.P.7.03 Identification of Polyadenylated (PolyA+) transcripts within the dystrophin gene with a high density microarray
Published in Neuromuscular disorders : NMD (01-10-2008)Get full text
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Report of two cases of Rosai-Dorfman disease with only skin involvement
Published in Pathologica (01-10-2008)“…Although cutaneous localization associated with lymphadenopathy is a common phenomenon in Rosai-Dorfman disease, cutaneous and subcutaneous involvement alone…”
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T.P.2.06 Modulation of small mutations in dystrophin “skippable” exons: In vitro studies to identify the optimal PS-AONs
Published in Neuromuscular disorders : NMD (01-10-2008)Get full text
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Ileal inflammatory fibroid polyp causing chronic ileocolic intussusception and mimicking cecal carcinoma
Published in World journal of gastrointestinal oncology (15-10-2009)“…Inflammatory fibroid polyp(IFP) is a rare,idiopathic pseudotumorous lesion of the gastrointestinal tract.While mostly reported as solitary gastric…”
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Undifferentiated gastric carcinoma with lymphoid stroma (lymphoepithelioma-like carcinoma/medullary carcinoma)
Published in Pathologica (01-02-2009)“…Undifferentiated gastric carcinoma with lymphoid stroma is a histological type of gastric cancer with favourable prognosis, microscopically characterised by…”
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Elastofibroma dorsi: three cases of personal experience
Published in Il Giornale di chirurgia (01-03-2009)“…Elastofibroma dorsi is a rare, slow growing, soft tissue lesion, which occurs mainly in elderly women, typical located in the infrascapular region. This lesion…”
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Corrigendum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice
Published in Nature medicine (01-04-2015)Get full text
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Signal transduction pathways triggered by selective formylpeptide analogues in human neutrophils
Published in European journal of pharmacology (18-03-2006)“…Human neutrophils are highly specialised for their primary function, i.e. phagocytosis and destruction of microorganisms. Leukocyte recruitment to sites of…”
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Protein and mRNA expression of autophagy gene Beclin 1 in human brain tumours
Published in International journal of oncology (01-02-2007)“…Beclin 1 is is an autophagy gene, the role of which as a tumour suppressor has recently been recognized in a few studies. We examined the expression of Beclin…”
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Use of TMPRSS2-ERG gene rearrangement and quantitative ERG expression to predict clinical recurrence after radical prostatectomy
Published in Journal of clinical oncology (20-05-2011)“…Abstract only…”
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