Search Results - "GUANTI, G."

A novel cell type-specific role of p38α in the control of autophagy and cell death in colorectal cancer cells by Comes, F, Matrone, A, Lastella, P, Nico, B, Susca, F C, Bagnulo, R, Ingravallo, G, Modica, S, Lo Sasso, G, Moschetta, A, Guanti, G, Simone, C

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Hereditary Haemorrhagic Telangiectasia (HHT): genetic and molecular aspects by Lenato, G M, Guanti, G

“…Hereditary Haemorrhagic Telangiectasia, or Rendu-Osler-Weber syndrome, is a rare autosomal dominant disorder involving the vascular system and is characterised…”
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Cancer risks in LKB1 germline mutation carriers by Mehenni, H, Resta, N, Park, J-G, Miyaki, M, Guanti, G, Costanza, M C

“…Background and aims: Germline mutations in the LKB1 gene are known to cause Peutz-Jeghers syndrome, which is an autosomal dominant disorder characterised by…”
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Life expectancy in patients with hereditary haemorrhagic telangiectasia by SABBA, C, PASCULLI, G, SUPPRESSA, P, D'OVIDIO, F, MARIANO LENATO, G, RESTA, F, ASSENNATO, G, GUANTI, G

“…There are few data on life expectancy in patients with hereditary haemorrhagic telangiectasia (HHT), a disorder with life-threatening complications. Seventy…”
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Screening for children from families with Rendu–Osler–Weber disease: from geneticist to clinician by GIORDANO, P., NIGRO, A., LENATO, G. M., GUANTI, G., SUPPRESSA, P., LASTELLA, P., DE MATTIA, D., SABBÀ, C.

“…Background: Rendu–Osler–Weber syndrome, or hereditary hemorrhagic telangiectasia (HHT), is an autosomal dominant vascular disorder. The syndrome is…”
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Involvement of PTEN mutations in the genetic pathways of colorectal cancerogenesis by GUANTI, G, RESTA, N, SIMONE, C, CARIOLA, F, DEMMA, I, FIORENTE, P, GENTILE, M

“…So far, somatic mutations of the PTEN gene have been found in several different neoplasms but not in colorectal tumours. As exons 7 and 8 of the PTEN coding…”
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Germline novel MSH2 deletions and a founder MSH2 deletion associated with anticipation effects in HNPCC by Stella, A, Surdo, NC, Lastella, P, Barana, D, Oliani, C, Tibiletti, MG, Viel, A, Natale, C, Piepoli, A, Marra, G, Guanti, G

“…Hereditary non‐polyposis colorectal cancer (HNPCC) is caused by inactivating mutations of DNA mismatch repair genes. Large genomic rearrangements in these…”
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Noncolonic cancer stem cells in bone marrow of colorectal cancer patients by Altomare, D. F., Guanti, G., Hoch, J., Vician, M., Krivokapic, Z., Bergamaschi, R.

“…Objective  To investigate whether preoperative noncolonic cancer stem cells in bone marrow (BM) of R0 colorectal cancer (CRC) patients are cancer cells and…”
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Hereditary haemorrhagic telangiectasia: a rare disease as a model for the study of human atherosclerosis by Lenato, G M, Suppressa, P, Giordano, P, Guanti, G, Guastamacchia, E, Triggiani, V, Amati, L, Resta, F, Covelli, V, Jirillo, E, Sabbà, C

“…Hereditary Haemorrhagic Telangiectasia (HHT) or Rendu-Osler-Weber syndrome is an autosomal dominant disease characterized by local angiodysplasia affecting…”
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Functional analysis of LKB1/STK11 mutants and two aberrant isoforms found in Peutz-Jeghers Syndrome patients by Boudeau, J., Kieloch, A., Alessi, D.R., Stella, A., Guanti, G., Resta, N.

“…Peutz‐Jeghers Syndrome (PJS) is thought to be caused by mutations occurring in the widely expressed serine/threonine protein kinase named LKB1/STK11. Recent…”
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Capillaroscopy of the dorsal skin of the hands in hereditary hemorrhagic telangiectasia by Pasculli, G., Quaranta, D., Lenato, G.M., Suppressa, P., Lastella, P., Guanti, G., Sabbà, C.

“…Background: Cutaneous telangiectases are manifestations of hereditary hemorrhagic telangiectasia (HHT), a dominantly inherited disorder. Telangiectases have…”
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Genetic testing and surgeon decision by Guanti, G

“…Colorectal cancer is a highly treatable and often curable disease when localized to the bowel. Traditional pathological staging systems have been useful in…”
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Site directed mutagenesis of hMLH1 exonic splicing enhancers does not correlate with splicing disruption by Lastella, P, Resta, N, Miccolis, I, Quagliarella, A, Guanti, G, Stella, A

“…[...]the predictive capacity of the SR protein score matrices may be low in a specific exonic context as suggested by our results or when composite elements…”
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A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family by Montera, M, Piaggio, F, Marchese, C, Gismondi, V, Stella, A, Resta, N, Varesco, L, Guanti, G, Mareni, C

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Synthesis of a methoxy-substituted lactenediyne by Banfi, Luca, Guanti, Giuseppe

“…The novel lactenediyne 12, characterised by a protected 2-hydroxyethyl chain at N-11 and by a methoxy group at C-1 was efficiently prepared by a new strategy…”
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Enzymatic Resolution of Acetoxyalkenylphosphonates and Their Exploitation in the Chemoenzymatic Synthesis of Phosphonic Derivatives of Carbohydrates by Guanti, G., Zannetti, M. T., Banfi, L., Riva, R.

“…The resolution of racemic α‐, β‐, and γ‐hydroxy‐ω‐alkenylphosphonates was achieved by enzymatic hydrolysis of the corresponding acetates. The optically active…”
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Two novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patients by Resta, N., Stella, A., Susca, F.C., Di Giacomo, M., Forleo, G., Miccolis, I., Rossini, F.P., Genuardi, M., Piepoli, A., Grammatico, P., Guanti, G.

“…Editor's Note: Due to a technical problem in the Editorial Office, the accepted manuscript, which should have been published online during the week of February…”
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The Italian external quality assessment scheme in classical cytogenetics: four years of activity by Floridia, G, Falbo, V, Censi, F, Tosto, F, Salvatore, M, Baroncini, A, Battaglia, P, Conti, A, Donti, E, La Starza, R, Nitsch, L, Pierluigi, M, Piombo, G, Susca, F, Mancini, M, Mecucci, C, Calzolari, E, Dagna Bricarelli, F, Guanti, G, Taruscio, D

“…The Italian external quality assessment scheme in classical cytogenetics was started in 2001 as an activity funded by the National Health System and…”
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Mutational germline analysis of hMSH2 and hMLH1 genes in early onset colorectal cancer patients by Montera, M, Resta, N, Simone, C, Guanti, G, Marchese, C, Civitelli, S, Mancini, A, Pozzi, S, De Salvo, L, Bruzzone, D, Donadini, A, Romio, L, Mareni, C

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Cyclin E and chromosome instability in colorectal cancer cell lines by Simone, C, Resta, N, Bagella, L, Giordano, A, Guanti, G

“…Aims/Background: The development of colorectal cancer depends on at least two distinct pathways involving genetic instability, namely: chromosome instability…”
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