Sfoglia per Autore
Linkage disequilibrium of three polymorphic RFLPs markers in the apolipoproteins AI-CIII gene cluster on chromosome 11
1993-01-01 Marasco, ; Melina, F.; Mele, E.; Quaresima, B.; Zingone, A.; Focarelli, E.; Picciotti, E.; Martelli, M. L.; Fotino, L.; Vigna, M. F.; Baudi, F.; Dominijanni, A.; Angotti, E.; Pujia, A.; Perrotti, N; Colonna, A.; Mattioli, ; Porcellini, A.; Costanzo, F. S.; Avvedimento, V. E.
Linkage disequilibrium of three polymorphic RFLP markers in the apolipoprotein AI-CIII cluster on chromosome 11
1993-01-01 Marasco, O.; Melina, F.; Mele, E.; Quaresima, B.; Zingone, A.; Focarelli, E.; Picciotti, E.; Martelli, M. L.; Fotino, L.; Vigna, M. F.; Baudi, F.; Dominijanni, A.; Angotti, E.; Pujia, A.; Perrotti, N.; Colonna, A.; Mattioli, P. L.; Porcellini, A.; Costanzo, F; Avvedimento, V. E.
Analysis of three polymorphic markers(RFLPs)in the apolipoprotein AI-CIII gene cluster
1993-01-01 Quaresima, B.; Marasco, O.; Melina, F.; Mele, E.; Zingone, A.; Focarelli, E.; Picciotti, E.; Martelli, M. L.; Fotino, L.; Vigna, M. F.; Baudi, F.; Dominijanni, A.; Angotti, E.; Perrotti, N; Porcellini, A.; Colonna, A.; Mattioli, P. L.; Costanzo, V. E. AVVEDIMENTO AND F.
Deletion polymorphism in the gene for angiotensin converting enzyme is associated to elevated fasting blood glucose levels
1994-01-01 Zingone, A.; Dominijanni, A.; Mele, E.; Marasco, 0.; Melina, F.; Minchella, P.; Quaresima, B.; Tiano, M. T.; Gnasso, A.; Puija, A.; Perrotti, N
Deletion polymorphism in the gene for angiotensin converting enzyme is associated with elevated fasting blood glucose levels
1994-01-01 Zingone, A.; Dominijanni, A.; Mele, E.; Marasco, O.; Melina, F.; Minchella, P.; Quaresima, B.; Tiano, Mt; Gnasso, A; Pujia, A.; Perrotti, N.
PCR analysis of the H ferritin multigene family reveals the existence of two classes of processed pseudogenes
1994-01-01 Quaresima, B.; Tiano, M. T.; Porcellini, A.; D'Agostino, P.; Faniello, C.; Bevilacaqua, M. A.; Cimino, F.; Costanzo, F
Transcriptional activation of the H-ferritin gene in differentiated Caco-2 cells parallels a change in the activity of the nuclear factor Bbf
1995-01-01 Bevilacqua, Ma; Faniello, C; D'Agostino, P; Quaresima, B; Tiano, Mt; Pignata, S; Russo, T; Cimino, F; Costanzo, F
Negative and positive elements in the promoter region of the human apoferritin L gene
1995-01-01 D'Agostino, P; Faniello, C; Quaresima, B; Bevilacqua, Ma; Tiano, Mt; Ammendola, R; Cimino, F; Costanzo, F
A Common Mechanism Underlying the E1A Repression and the cAMP Stimulation of the H Ferritin Transcription
1997-01-01 Bevilacqua, M A; Faniello, C; Quaresima, B; Tiano, Mt; Giuliano, P; Feliciello, A; Avvedimento, Ve; Cimino, F; Costanzo, F
A new L771L polymorphism in the BRCA1 gene frequently found in Southern Italy
1998-01-01 Baudi, F; Grandinetti, C; Quaresima, B; Tassone, F; Barbieri, V; Costanzo, F; Venuta, S
Hereditary Nonpolyposis Colorectal Cancer: Identification of Novel Germline Mutations in Two Kindreds Not Fulfilling Amsterdam Criteria
1998-01-01 Quaresima, B.; Grandinetti, C.; Baudi, F.; Tassone, P. F.; Barbieri, V.; Conforti, S.; Avvedimento, V. E.; Costanzo, F; Venuta, S.
Hereditary nonpolyposis colon cancer results from heritable defects in the MLH1, MSH2, PMS1 and PMS2 genes, which encode proteins involved in the mismatch repair process. In this work we report the identification of two novel germline mutations in the MLH1 gene from two unrelated HNPCC families. The two affected families do not fulfill the Amsterdam criteria. In family 1 we found a missense S93G mutation, which lies in a MLH1 domain critical for its MMR functions. In family 2 we found a two nucleotide insertion (AG) in position 523 from the AUG which determines an early stop codon at position 606 (codon 203). In both families the mutant alleles cosegregate with the cancer phenotype.
1998-01-01 Quaresima, B1; Grandinetti, C; Baudi, F; Tassone, P; Barbieri, V; Conforti, S; Avvedimento, Ev; Costanzo, F; Venuta, S
Transcriptional regulation of the mismatch repair gene hMLH1
2001-01-01 Quaresima, B; Faniello, C; Baudi, F; Cuda, G; Grandinetti, C; Tassone, P; Costanzo, F; Venuta, S.
Evidence of a founder mutation of BRCA1 in a highly homogeneous population from southern Italy with breast/ovarian cancer
2001-01-01 Baudi, F; Quaresima, B; Grandinetti, C; Cuda, G; Faniello, C; Tassone, P; Barbieri, V; Bisegna, R; Ricevuto, E; Conforti, S; Viel, A; Marchetti, P; Ficorella, C; Radice, P; Costanzo, F; Venuta, S.
Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer
2002-01-01 NYSTROM-LAHTI, M; Perrera, C; Raschle, M; PANYUSHKINA-SEILER, E; Marra, G; Curci, A; Quaresima, B; Costanzo, F; D'Urso, M; Venuta, S; Jiricny, J
An alternative model of H-ferritin promoter transactivation by c-Jun
2002-01-01 Faniello, C; Chirico, G; Quaresima, B; Cuda, G; Allevato, G; Bevilacqua, M; Baudi, F; Colantuoni, V; Cimino, F; Venuta, S; Avvedimento, Ve; Costanzo, F
BRCA1 expression modulates chemosensitivity of BRCA1-defective HCC1937 human breast cancer cells
2003-01-01 Tassone, P; Tagliaferri, P; Perricelli, A; Blotta, S; Quaresima, B; Martelli, Ml; Goel, A; Barbieri, V; Boland, Cr; Venuta, S; Costanzo, F
Human mismatch-repair protein MutL homologue 1 (MLH1) interacts with Escherichia coli MutL and MutS in vivo and in vitro: a simple genetic system to assay MLH1 function
2003-01-01 Quaresima, B; Alifano, P; Tassone, P; Avvedimento, Ev; Costanzo, F; Venuta, S
A novel Q3034R BRCA2 germline mutation identified in a fallopian tube cancer patient
2003-01-01 Baudi, F; DE PAOLA, L; Quaresima, B; Faniello, C; Fersini, G; Gasparro, S; Fabiani, G; Driul, L; D'Elia, A; Casarsa, S; Marchesoni, D; Damante, G; Cuda, G; Costanzo, F; Venuta, S.
Human mismatch-repair protein MutL homologue 1 (MLH1) interacts with Escherichia coli MutL and MutS in vivo and in vitro: a simple genetics system to assay MLH1 function
2003-01-01 Quaresima, B; Alifano, P; Tassone, P; Avvedimento, Ev; Costanzo, Fs; Venuta, S
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
Linkage disequilibrium of three polymorphic RFLPs markers in the apolipoproteins AI-CIII gene cluster on chromosome 11 | 1-gen-1993 | Marasco, ; Melina, F.; Mele, E.; Quaresima, B.; Zingone, A.; Focarelli, E.; Picciotti, E.; Martelli, M. L.; Fotino, L.; Vigna, M. F.; Baudi, F.; Dominijanni, A.; Angotti, E.; Pujia, A.; Perrotti, N; Colonna, A.; Mattioli, ; Porcellini, A.; Costanzo, F. S.; Avvedimento, V. E. | |
Linkage disequilibrium of three polymorphic RFLP markers in the apolipoprotein AI-CIII cluster on chromosome 11 | 1-gen-1993 | Marasco, O.; Melina, F.; Mele, E.; Quaresima, B.; Zingone, A.; Focarelli, E.; Picciotti, E.; Martelli, M. L.; Fotino, L.; Vigna, M. F.; Baudi, F.; Dominijanni, A.; Angotti, E.; Pujia, A.; Perrotti, N.; Colonna, A.; Mattioli, P. L.; Porcellini, A.; Costanzo, F; Avvedimento, V. E. | |
Analysis of three polymorphic markers(RFLPs)in the apolipoprotein AI-CIII gene cluster | 1-gen-1993 | Quaresima, B.; Marasco, O.; Melina, F.; Mele, E.; Zingone, A.; Focarelli, E.; Picciotti, E.; Martelli, M. L.; Fotino, L.; Vigna, M. F.; Baudi, F.; Dominijanni, A.; Angotti, E.; Perrotti, N; Porcellini, A.; Colonna, A.; Mattioli, P. L.; Costanzo, V. E. AVVEDIMENTO AND F. | |
Deletion polymorphism in the gene for angiotensin converting enzyme is associated to elevated fasting blood glucose levels | 1-gen-1994 | Zingone, A.; Dominijanni, A.; Mele, E.; Marasco, 0.; Melina, F.; Minchella, P.; Quaresima, B.; Tiano, M. T.; Gnasso, A.; Puija, A.; Perrotti, N | |
Deletion polymorphism in the gene for angiotensin converting enzyme is associated with elevated fasting blood glucose levels | 1-gen-1994 | Zingone, A.; Dominijanni, A.; Mele, E.; Marasco, O.; Melina, F.; Minchella, P.; Quaresima, B.; Tiano, Mt; Gnasso, A; Pujia, A.; Perrotti, N. | |
PCR analysis of the H ferritin multigene family reveals the existence of two classes of processed pseudogenes | 1-gen-1994 | Quaresima, B.; Tiano, M. T.; Porcellini, A.; D'Agostino, P.; Faniello, C.; Bevilacaqua, M. A.; Cimino, F.; Costanzo, F | |
Transcriptional activation of the H-ferritin gene in differentiated Caco-2 cells parallels a change in the activity of the nuclear factor Bbf | 1-gen-1995 | Bevilacqua, Ma; Faniello, C; D'Agostino, P; Quaresima, B; Tiano, Mt; Pignata, S; Russo, T; Cimino, F; Costanzo, F | |
Negative and positive elements in the promoter region of the human apoferritin L gene | 1-gen-1995 | D'Agostino, P; Faniello, C; Quaresima, B; Bevilacqua, Ma; Tiano, Mt; Ammendola, R; Cimino, F; Costanzo, F | |
A Common Mechanism Underlying the E1A Repression and the cAMP Stimulation of the H Ferritin Transcription | 1-gen-1997 | Bevilacqua, M A; Faniello, C; Quaresima, B; Tiano, Mt; Giuliano, P; Feliciello, A; Avvedimento, Ve; Cimino, F; Costanzo, F | |
A new L771L polymorphism in the BRCA1 gene frequently found in Southern Italy | 1-gen-1998 | Baudi, F; Grandinetti, C; Quaresima, B; Tassone, F; Barbieri, V; Costanzo, F; Venuta, S | |
Hereditary Nonpolyposis Colorectal Cancer: Identification of Novel Germline Mutations in Two Kindreds Not Fulfilling Amsterdam Criteria | 1-gen-1998 | Quaresima, B.; Grandinetti, C.; Baudi, F.; Tassone, P. F.; Barbieri, V.; Conforti, S.; Avvedimento, V. E.; Costanzo, F; Venuta, S. | |
Hereditary nonpolyposis colon cancer results from heritable defects in the MLH1, MSH2, PMS1 and PMS2 genes, which encode proteins involved in the mismatch repair process. In this work we report the identification of two novel germline mutations in the MLH1 gene from two unrelated HNPCC families. The two affected families do not fulfill the Amsterdam criteria. In family 1 we found a missense S93G mutation, which lies in a MLH1 domain critical for its MMR functions. In family 2 we found a two nucleotide insertion (AG) in position 523 from the AUG which determines an early stop codon at position 606 (codon 203). In both families the mutant alleles cosegregate with the cancer phenotype. | 1-gen-1998 | Quaresima, B1; Grandinetti, C; Baudi, F; Tassone, P; Barbieri, V; Conforti, S; Avvedimento, Ev; Costanzo, F; Venuta, S | |
Transcriptional regulation of the mismatch repair gene hMLH1 | 1-gen-2001 | Quaresima, B; Faniello, C; Baudi, F; Cuda, G; Grandinetti, C; Tassone, P; Costanzo, F; Venuta, S. | |
Evidence of a founder mutation of BRCA1 in a highly homogeneous population from southern Italy with breast/ovarian cancer | 1-gen-2001 | Baudi, F; Quaresima, B; Grandinetti, C; Cuda, G; Faniello, C; Tassone, P; Barbieri, V; Bisegna, R; Ricevuto, E; Conforti, S; Viel, A; Marchetti, P; Ficorella, C; Radice, P; Costanzo, F; Venuta, S. | |
Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer | 1-gen-2002 | NYSTROM-LAHTI, M; Perrera, C; Raschle, M; PANYUSHKINA-SEILER, E; Marra, G; Curci, A; Quaresima, B; Costanzo, F; D'Urso, M; Venuta, S; Jiricny, J | |
An alternative model of H-ferritin promoter transactivation by c-Jun | 1-gen-2002 | Faniello, C; Chirico, G; Quaresima, B; Cuda, G; Allevato, G; Bevilacqua, M; Baudi, F; Colantuoni, V; Cimino, F; Venuta, S; Avvedimento, Ve; Costanzo, F | |
BRCA1 expression modulates chemosensitivity of BRCA1-defective HCC1937 human breast cancer cells | 1-gen-2003 | Tassone, P; Tagliaferri, P; Perricelli, A; Blotta, S; Quaresima, B; Martelli, Ml; Goel, A; Barbieri, V; Boland, Cr; Venuta, S; Costanzo, F | |
Human mismatch-repair protein MutL homologue 1 (MLH1) interacts with Escherichia coli MutL and MutS in vivo and in vitro: a simple genetic system to assay MLH1 function | 1-gen-2003 | Quaresima, B; Alifano, P; Tassone, P; Avvedimento, Ev; Costanzo, F; Venuta, S | |
A novel Q3034R BRCA2 germline mutation identified in a fallopian tube cancer patient | 1-gen-2003 | Baudi, F; DE PAOLA, L; Quaresima, B; Faniello, C; Fersini, G; Gasparro, S; Fabiani, G; Driul, L; D'Elia, A; Casarsa, S; Marchesoni, D; Damante, G; Cuda, G; Costanzo, F; Venuta, S. | |
Human mismatch-repair protein MutL homologue 1 (MLH1) interacts with Escherichia coli MutL and MutS in vivo and in vitro: a simple genetics system to assay MLH1 function | 1-gen-2003 | Quaresima, B; Alifano, P; Tassone, P; Avvedimento, Ev; Costanzo, Fs; Venuta, S |
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