Antonio Pizzuti

Summary

Affiliation: San Giovanni Rotondo and CSS-Mendel Institute
Country: Italy

Publications

  1. ncbi request reprint A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci
    Emilia Bellone
    Department of Oncology, Biology and Genetics, University of Genoa, Viale Benedetto XV, 6 16132 Genoa, Italy
    Neuromuscul Disord 12:286-91. 2002
  2. ncbi request reprint Hereditary gingival fibromatosis (HGF) with hypertrichosis is unlinked to the HGF1 and HGF2 loci
    Massimo Mangino
    Am J Med Genet A 116:312-4. 2003
  3. ncbi request reprint Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot
    Antonio Pizzuti
    Dipartimento di Medicina Sperimentale e Patologia, Universita di Roma La Sapienza, Rome, Italy
    Hum Mutat 22:372-7. 2003
  4. ncbi request reprint Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanism
    Antonio Pizzuti
    Dipartimento di Medicina Sperimentale e Patologia, Università di Roma La Sapienza and Ospedale Casa Sollievo della Sofferenza San Giovanni Rotondo IRCSS, Istituto Mendel, Rome, Italy
    Ann Neurol 53:396-9. 2003
  5. ncbi request reprint A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype
    Antonio Pizzuti
    Ospedale Casa Sollievo della Sofferenza and Istituto CSS Mendel, Roma, Italy
    Hum Mutat 23:286. 2004
  6. ncbi request reprint Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations
    M Cristina Digilio
    Medical Genetics, Bambino Gesu Hospital, Rome, Italy
    Birth Defects Res A Clin Mol Teratol 70:95-8. 2004
  7. pmc Functional analysis of splicing mutations in exon 7 of NF1 gene
    Irene Bottillo
    IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
    BMC Med Genet 8:4. 2007
  8. doi request reprint Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion
    Antonio Pizzuti
    Department of Experimental Medicine, Sapienza University, Rome, Italy
    Neurogenetics 12:233-40. 2011
  9. ncbi request reprint Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes
    Anna Sarkozy
    IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
    Am J Med Genet A 143:1009-11. 2007
  10. ncbi request reprint A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome
    Anna Sarkozy
    CSS Hospital, IRCCS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
    Eur J Hum Genet 12:1069-72. 2004

Collaborators

Detail Information

Publications37

  1. ncbi request reprint A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci
    Emilia Bellone
    Department of Oncology, Biology and Genetics, University of Genoa, Viale Benedetto XV, 6 16132 Genoa, Italy
    Neuromuscul Disord 12:286-91. 2002
    ....
  2. ncbi request reprint Hereditary gingival fibromatosis (HGF) with hypertrichosis is unlinked to the HGF1 and HGF2 loci
    Massimo Mangino
    Am J Med Genet A 116:312-4. 2003
  3. ncbi request reprint Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot
    Antonio Pizzuti
    Dipartimento di Medicina Sperimentale e Patologia, Universita di Roma La Sapienza, Rome, Italy
    Hum Mutat 22:372-7. 2003
    ..ZFPM2/FOG2 gene mutations may contribute to some sporadic cases of TOF...
  4. ncbi request reprint Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanism
    Antonio Pizzuti
    Dipartimento di Medicina Sperimentale e Patologia, Università di Roma La Sapienza and Ospedale Casa Sollievo della Sofferenza San Giovanni Rotondo IRCSS, Istituto Mendel, Rome, Italy
    Ann Neurol 53:396-9. 2003
    ..This finding suggests a loss-of-function mechanism for LGI1 gene mutations causing ADPEAF even if other mechanisms cannot be ruled out...
  5. ncbi request reprint A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype
    Antonio Pizzuti
    Ospedale Casa Sollievo della Sofferenza and Istituto CSS Mendel, Roma, Italy
    Hum Mutat 23:286. 2004
    ..R76S) leads to a complete dominant ODDD phenotype. A case of full-blown HSS phenotype was also analysed but GJA1 mutations were not found. GJA1 homozygous hypomorphic mutations can result in a phenotype in the HSS/ODDD spectrum...
  6. ncbi request reprint Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations
    M Cristina Digilio
    Medical Genetics, Bambino Gesu Hospital, Rome, Italy
    Birth Defects Res A Clin Mol Teratol 70:95-8. 2004
    ..Mutations in PTPN11, a gene encoding the protein tyrosine phosphatase SHP-2 located at chromosome 12q24, have been identified in patients with LEOPARD syndrome...
  7. pmc Functional analysis of splicing mutations in exon 7 of NF1 gene
    Irene Bottillo
    IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
    BMC Med Genet 8:4. 2007
    ..Neurofibromatosis type 1 is one of the most common autosomal dominant disorders, affecting about 1:3,500 individuals. NF1 exon 7 displays weakly defined exon-intron boundaries, and is particularly prone to missplicing...
  8. doi request reprint Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion
    Antonio Pizzuti
    Department of Experimental Medicine, Sapienza University, Rome, Italy
    Neurogenetics 12:233-40. 2011
    ..Our study widens the phenotypic and mutational spectrum of NF1 and illustrates the difficulties of counseling patients with border-line or atypical presentation of this disorder...
  9. ncbi request reprint Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes
    Anna Sarkozy
    IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
    Am J Med Genet A 143:1009-11. 2007
  10. ncbi request reprint A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome
    Anna Sarkozy
    CSS Hospital, IRCCS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
    Eur J Hum Genet 12:1069-72. 2004
    ..This observation joins together NS and LS to NLS into a unique genetic defect, broadening the clinical and molecular spectrum of PTPN11-related disorders...
  11. pmc Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene
    Maria Cristina Digilio
    Division of Medical Genetics, Bambino Gesu Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy
    Am J Hum Genet 71:389-94. 2002
    ..The detected mutations suggest that distinct molecular and pathogenetic mechanisms cause the peculiar cutaneous manifestations of the ML/LEOPARD-syndrome subtype of NS...
  12. ncbi request reprint ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia
    Anna Sarkozy
    CSS Hospital, IRCCS, San Giovanni Rotondo, Italy CSS Mendel Institute, Rome, Italy
    Am J Med Genet A 133:68-70. 2005
    ..No pathogenetic mutation has been identified, thus failing to demonstrate a major role of ZFPM2/FOG2 and HEY2 genes in the pathogenesis of human TriAt...
  13. pmc NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome
    Alessandro De Luca
    CSS Hospital, IRCCS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
    Am J Hum Genet 77:1092-101. 2005
    ..These results support the view that NFNS represents a variant of NF1 and is caused by mutations of the NF1 gene, some of which have been demonstrated to cause classic NF1 in other individuals...
  14. pmc Brain derived neurotrophic factor (BDNF) expression is regulated by microRNAs miR-26a and miR-26b allele-specific binding
    Viviana Caputo
    Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy
    PLoS ONE 6:e28656. 2011
    ..In conclusion, in the present study we identified two novel miRNAs regulating BDNF expression and the first BDNF 3'UTR functional variants altering miRNAs-BDNF binding...
  15. pmc Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype
    Claudio Carta
    Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanita, Rome, Italy
    Am J Hum Genet 79:129-35. 2006
    ....
  16. doi request reprint Mitochondrial disfunction as a cause of ALS
    Antonio Pizzuti
    Università di Roma Sapienza Dipartimento di Medicina Sperimentale, Istituto CSS Mendel, Rome, Italy
    Arch Ital Biol 149:113-9. 2011
    ..The article briefly addresses recent advances on this field...
  17. doi request reprint Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy
    Antonio Suppa
    Department of Neurological Sciences, Sapienza University of Rome, Rome, Italy
    Epilepsia 50:1284-8. 2009
    ..Linkage analysis excluded the 8q24 locus, where patients shared a common haplotype spanning 14.5 Mb in the pericentromeric region of chromosome 2...
  18. ncbi request reprint Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11
    Leila Baghernajad Salehi
    Department of Experimental Medicine and Pathology, University La Sapienza, Rome, Italy
    Hum Genet 111:401-4. 2002
    ..We scored genes mapping in this interval and studied the heparan sulfotransferase genes as candidates on the basis of their biochemical role. No causative mutation was detected in the affected patients...
  19. ncbi request reprint DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 gene
    Emanuela Conti
    CSS Hospital, IRCCS, San Giovanni Rotondo, Italy
    Eur J Hum Genet 11:349-51. 2003
    ..Besides a few polymorphisms, we did not find any pathogenetic variation. These results do not support a major role of the TBX1 gene as responsible for human nonsyndromic CTDs...
  20. pmc Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome
    Elisabetta Flex
    Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superioredi Sanità, Rome, Italy
    J Med Genet 50:493-9. 2013
    ..KOS is a rare, possibly underestimated condition, with fewer than 10 cases reported to date. Here we investigate the molecular cause underlying KOS...
  21. doi request reprint Cytotoxic T-lymphocyte antigen 4 (CTLA4) +49AG and CT60 gene polymorphisms in Alopecia Areata: a case-control association study in the Italian population
    Francesca Megiorni
    Department of Experimental Medicine, Sapienza University of Rome, Viale Regina Elena 324, 00161, Rome, Italy
    Arch Dermatol Res 305:665-70. 2013
    ..014, OR = 0.28, 95 % 0.09-0.82). Altogether, our findings confirm that only CTLA4 CT60 polymorphism seems to be an important genetic determinant of Alopecia Areata development in Italian subjects. ..
  22. ncbi request reprint Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia
    Francesco Brancati
    Istituto C S S Mendel, Rome, Italy
    Mov Disord 17:392-7. 2002
    ..These findings support genetic heterogeneity of PTD and indicate that a novel unassigned gene is responsible for focal dystonia in this family...
  23. pmc HLA-DQA1 and HLA-DQB1 in Celiac disease predisposition: practical implications of the HLA molecular typing
    Francesca Megiorni
    Department of Experimental Medicine, Sapienza University of Rome, Viale Regina Elena, 324 Rome, Italy
    J Biomed Sci 19:88. 2012
    ....
  24. pmc Synergistic post-transcriptional regulation of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) by miR-101 and miR-494 specific binding
    Francesca Megiorni
    Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy
    PLoS ONE 6:e26601. 2011
    ..001). This is one of the first in vitro studies implicating microRNAs as negative regulators of the CFTR gene expression. miRNA aberrant expression and function might explain the wide phenotypic variability observed among CF patients...
  25. ncbi request reprint Association of the matrix metalloproteinase-3 (MMP-3) promoter polymorphism with celiac disease in male subjects
    Barbara Mora
    Department of Experimental Medicine and Pathology, University of Rome La Sapienza, Rome, Italy
    Hum Immunol 66:716-20. 2005
    ..Homozygosity for the 6A allele appears as a risk factor for CD only in men, which is different from the HLA susceptibility alleles that confer a higher risk in women...
  26. ncbi request reprint Cytogenetic mapping of a novel locus for type II Waardenburg syndrome
    Angelo Selicorni
    IRCCS E Medea, Associazione La Nostra Famiglia, Bosisio Parini, Italy
    Hum Genet 110:64-7. 2002
    ..The only cloned gene for WS2 is that for microphtalmia (MITF) on chromosome 3p. In this family, MITF mutations were excluded by sequencing the whole coding region. The 8p23 region may represent a third locus for WS2 (WS2C)...
  27. ncbi request reprint Mutations of the Nogo-66 receptor (RTN4R) gene in schizophrenia
    Lorenzo Sinibaldi
    IRCCS C S S San Giovanni Rotondo, 00198 Rome, Italy
    Hum Mutat 24:534-5. 2004
    ..Both missense changes were absent in 300 control subjects. Molecular modeling revealed that both changes lead to putative structural alterations of the native protein...
  28. ncbi request reprint Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor
    Simona Pigullo
    Department of Neurosciences, Ophthalmology and Genetics, Section of Medical Genetics, University of Genoa c o DIMI, Viale Benedetto XV 6, 16132 Genoa, Italy
    Parkinsonism Relat Disord 10:357-62. 2004
    ..To evaluate the relationship between point mutations within the parkin gene and essential tremor (ET)...
  29. ncbi request reprint An ATG repeat in the 3'-untranslated region of the human resistin gene is associated with a decreased risk of insulin resistance
    Antonio Pizzuti
    Department of Experimental Medicine and Pathology, CSS Mendel Institute, University La Sapienza, 00100 Rome, Italy
    J Clin Endocrinol Metab 87:4403-6. 2002
    ..005), and serum triglycerides (P = 0.01). In conclusion, our data suggest that subjects carrying allele 3 of the resistin gene are characterized by relatively high insulin sensitivity...
  30. ncbi request reprint A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a duane syndrome patient
    Antonio Pizzuti
    Department of Experimental Medicine and Pathology, University of Rome La Sapienza, Italy
    Invest Ophthalmol Vis Sci 43:3609-12. 2002
    ..To identify the gene disrupted by a de novo reciprocal balanced translocation t(6;8)(q26;q13) in a patient with Duane retraction syndrome (DURS). The break point in chromosome arm 8q is positioned within the DURS1 critical region...
  31. ncbi request reprint Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene
    Giovanni Defazio
    Department of Neurological and Psychiatric Sciences, University of Bari, Bari, Italy
    Mov Disord 18:207-12. 2003
    ..These findings suggest that primary familial adult-onset BSP is a distinct entity among inherited PTD and is caused by a novel, unmapped gene...
  32. ncbi request reprint LEOPARD syndrome: a new polyaneurysm association and an update on the molecular genetics of the disease
    Marineh Yagubyan
    Division of Vascular Surgery, Mayo Clinic and Mayo Foundation, Rochester, MN 55905, USA
    J Vasc Surg 39:897-900. 2004
    ..He has multiple other peripheral aneurysms, thus far asymptomatic. His diagnosis of LEOPARD syndrome was confirmed on a genetic basis. Review of the literature reveals no previous reports of severe aneurysmal disease in these patients...
  33. ncbi request reprint Variations in the NMDA receptor subunit 2B gene (GRIN2B) and schizophrenia: a case-control study
    Emilio Di Maria
    Department of Neuroscience, Ophthalmology and Genetics, Section of Medical Genetics, University of Genoa, c o DIMI Viale Benedetto XV 6, 16132 Genoa, Italy
    Am J Med Genet B Neuropsychiatr Genet 128:27-9. 2004
    ..04). These results suggest that GRIN2B variations might be linked with susceptibility to schizophrenia. Replication studies on larger samples are warranted to further test this hypothesis...
  34. ncbi request reprint Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer
    Pardeep Kaurah
    Hereditary Cancer Program, British Columbia Cancer Agency, Vancouver, British Columbia, Canada
    JAMA 297:2360-72. 2007
    ..Hereditary diffuse gastric cancer is caused by germline mutations in the epithelial cadherin (CDH1) gene and is characterized by an increased risk for diffuse gastric cancer and lobular breast cancer...
  35. ncbi request reprint Additional evidence that PTPN11 mutations play only a minor role in the pathogenesis of non-syndromic atrioventricular canal defect
    Anna Sarkozy
    CSS Hospital, IRCCS, San Giovanni Rotondo, Italy
    Am J Med Genet A 140:1970-2. 2006
  36. ncbi request reprint Hyperthrophic cardiomyopathy and the PTPN11 gene
    Anna Sarkozy
    Am J Med Genet A 136:93-4. 2005
  37. ncbi request reprint CRELD1 and GATA4 gene analysis in patients with nonsyndromic atrioventricular canal defects
    Anna Sarkozy
    Am J Med Genet A 139:236-8. 2005