Marco Tartaglia

Summary

Affiliation: Istituto Superiore di Sanit
Country: Italy

Publications

  1. pmc PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity
    Marco Tartaglia
    Department of Pediatrics, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, NY 10029, USA
    Am J Hum Genet 70:1555-63. 2002
  2. ncbi request reprint Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum
    Anna Sarkozy
    IRCCS, San Giovanni Rotondo, Dipartimento di Medicina Sperimentale e Patologia, Universita La Sapienza, Rome, Italy
    Hum Mutat 30:695-702. 2009
  3. pmc Noonan syndrome and clinically related disorders
    Marco Tartaglia
    Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanita, Viale Regina Elena 299, Rome, Italy
    Best Pract Res Clin Endocrinol Metab 25:161-79. 2011
  4. pmc Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia
    Elisabetta Flex
    Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanita, Rome, 00161, Italy
    J Exp Med 205:751-8. 2008
  5. pmc Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair
    Viviana Cordeddu
    Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanita, Rome, Italy
    Nat Genet 41:1022-6. 2009
  6. pmc Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome
    Simone Martinelli
    Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanita, 00161 Rome, Italy
    J Biol Chem 287:27066-77. 2012
  7. 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
  8. pmc SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations
    Francesca Lepri
    IRCCS Casa Sollievo della Sofferenza, Laboratorio Mendel, San Giovanni Rotondo, Italy
    Hum Mutat 32:760-72. 2011
  9. ncbi request reprint Germ-line and somatic PTPN11 mutations in human disease
    Marco Tartaglia
    Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanita, Viale Regina Elena, 299, 00161 Rome, Italy
    Eur J Med Genet 48:81-96. 2005
  10. ncbi request reprint Noonan syndrome and related disorders: genetics and pathogenesis
    Marco Tartaglia
    Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanita, 299 00161 Rome, Italy
    Annu Rev Genomics Hum Genet 6:45-68. 2005

Detail Information

Publications54

  1. pmc PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity
    Marco Tartaglia
    Department of Pediatrics, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, NY 10029, USA
    Am J Hum Genet 70:1555-63. 2002
    ..A PTPN11 mutation was identified in a family inheriting Noonan-like/multiple giant-cell lesion syndrome, extending the phenotypic range of disease associated with this gene...
  2. ncbi request reprint Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum
    Anna Sarkozy
    IRCCS, San Giovanni Rotondo, Dipartimento di Medicina Sperimentale e Patologia, Universita La Sapienza, Rome, Italy
    Hum Mutat 30:695-702. 2009
    ..Val600Glu mutant. Our findings provide evidence for a wide phenotypic diversity associated with mutations affecting BRAF, and occurrence of a clinical continuum associated with these molecular lesions...
  3. pmc Noonan syndrome and clinically related disorders
    Marco Tartaglia
    Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanita, Viale Regina Elena 299, Rome, Italy
    Best Pract Res Clin Endocrinol Metab 25:161-79. 2011
    ..Here, we provide an overview of clinical aspects of this disorder and closely related conditions, the molecular mechanisms underlying pathogenesis, and major genotype-phenotype correlations...
  4. pmc Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia
    Elisabetta Flex
    Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanita, Rome, 00161, Italy
    J Exp Med 205:751-8. 2008
    ..Our findings implicate dysregulated JAK1 function in ALL, particularly of T cell origin, and point to this kinase as a target for the development of novel antileukemic drugs...
  5. pmc Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair
    Viviana Cordeddu
    Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanita, Rome, Italy
    Nat Genet 41:1022-6. 2009
    ..These results document the first example of an acquired N-terminal lipid modification of a protein causing human disease...
  6. pmc Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome
    Simone Martinelli
    Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanita, 00161 Rome, Italy
    J Biol Chem 287:27066-77. 2012
    ....
  7. 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...
  8. pmc SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations
    Francesca Lepri
    IRCCS Casa Sollievo della Sofferenza, Laboratorio Mendel, San Giovanni Rotondo, Italy
    Hum Mutat 32:760-72. 2011
    ....
  9. ncbi request reprint Germ-line and somatic PTPN11 mutations in human disease
    Marco Tartaglia
    Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanita, Viale Regina Elena, 299, 00161 Rome, Italy
    Eur J Med Genet 48:81-96. 2005
    ..This review focuses on the role of SHP-2 in signal transduction, development and hematopoiesis, as well as on the consequences of SHP-2 gain-of-function...
  10. ncbi request reprint Noonan syndrome and related disorders: genetics and pathogenesis
    Marco Tartaglia
    Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanita, 299 00161 Rome, Italy
    Annu Rev Genomics Hum Genet 6:45-68. 2005
    ..A mouse model of PTPN11-related Noonan syndrome was recently generated, providing a reagent for studying disease pathogenesis in greater depth as well as experimenting with novel therapeutic strategies...
  11. pmc Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease
    Marco Tartaglia
    Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanita, Rome, Italy
    Am J Hum Genet 78:279-90. 2006
    ..Furthermore, we show that the recurrent LS-causing Y279C and T468M amino acid substitutions engender loss of SHP-2 catalytic activity, identifying a previously unrecognized behavior for this class of missense PTPN11 mutations...
  12. pmc Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms
    Marco Tartaglia
    Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanita, Rome, Italy
    Ann N Y Acad Sci 1214:99-121. 2010
    ....
  13. ncbi request reprint Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome
    Marco Tartaglia
    Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanita, Viale Regina Elena, 299, 00161 Rome, Italy
    Nat Genet 39:75-9. 2007
    ..Our findings implicate gain-of-function mutations in a RAS guanine nucleotide exchange factor in disease for the first time and define a new mechanism by which upregulation of the RAS pathway can profoundly change human development...
  14. ncbi request reprint Fibroblast growth factor receptor mutational screening in newborns affected by metopic synostosis
    M Tartaglia
    Reparto di Genetica Molecolare, Laboratorio di Biologia Cellulare, Istituto Superiore di Sanita, Viale Regina Elena, 299, I 00161 Rome, Italy
    Childs Nerv Syst 15:389-93; discussion 393-4. 1999
    ....
  15. ncbi request reprint Somatic PTPN11 mutations in childhood acute myeloid leukaemia
    Marco Tartaglia
    Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanita, 299 00161 Rome, Italy
    Br J Haematol 129:333-9. 2005
    ..Within the FAB-M5 group no clear association of PTPN11 mutations with any clinical variable was evident. Nearly two third of the patients with this subtype were found to harbour an activating mutation in PTPN11, NRAS, KRAS2 or FLT3...
  16. pmc Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome
    Marco Tartaglia
    Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanita, Rome, Italy
    Am J Hum Genet 75:492-7. 2004
    ....
  17. ncbi request reprint Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia
    Marco Tartaglia
    Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanita, Viale Regina Elena, 299 00161 Rome, Italy
    Blood 104:307-13. 2004
    ..Our findings provide evidence for a wider role of PTPN11 lesions in leukemogenesis, but also suggest a lineage-related and differentiation stage-related contribution of these lesions to clonal expansion...
  18. ncbi request reprint SHP-2 and myeloid malignancies
    Marco Tartaglia
    Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanita, Rome, Italy
    Curr Opin Hematol 11:44-50. 2004
    ..Specifically, we discuss the role of inherited and somatic mutations that result in SHP-2 gain-of-function in human disease, including myeloid malignancies...
  19. doi request reprint Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade
    Laura Cesarini
    Pediatric Neurology Unit, Catholic University, Rome, Italy
    Am J Med Genet A 149:140-6. 2009
    ....
  20. doi request reprint RAS signaling dysregulation in human embryonal Rhabdomyosarcoma
    Simone Martinelli
    Department of Hematology, Oncology and Molecular Medicine, Istituto Superiore di Sanita, Rome, Italy
    Genes Chromosomes Cancer 48:975-82. 2009
    ..Our findings provide evidence that dysregulation of RAS signaling is a major event contributing to embryonal RMS pathogenesis...
  21. pmc Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes
    Simone Martinelli
    Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanita, Viale Regina Elena 299, 00161 Rome, Italy
    Hum Mol Genet 17:2018-29. 2008
    ....
  22. ncbi request reprint Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome
    Giuseppe Zampino
    Istituto di Clinica Pediatrica, Universita Cattolica del Sacro Cuore, Rome, Italy
    Hum Mutat 28:265-72. 2007
    ..We noted an advanced age at conception in unaffected fathers transmitting the mutation...
  23. 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
    ....
  24. pmc Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations
    Maria Lisa Dentici
    IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo e Istituto CSS Mendel, Rome, Italy
    Eur J Hum Genet 17:733-40. 2009
    ..Conversely, congenital heart defects, particularly mitral valve and septal defects, and ocular anomalies seem to be less frequent among MEK1/MEK2 mutation-positive patients...
  25. ncbi request reprint Structural and functional effects of disease-causing amino acid substitutions affecting residues Ala72 and Glu76 of the protein tyrosine phosphatase SHP-2
    Gianfranco Bocchinfuso
    Dipartimento di Scienze e Tecnologie Chimiche, Universita di Roma Tor Vergata, Rome, Italy
    Proteins 66:963-74. 2007
    ....
  26. doi request reprint Long term memory profile of disorders associated with dysregulation of the RAS-MAPK signaling cascade
    Paolo Alfieri
    Department of Neuroscience, Bambino Gesu Children s Hospital, Rome, Italy
    Behav Genet 41:423-9. 2011
    ..Our data suggest that dysregulation of the RAS-MAPK cascade may be associated with a pattern of reduced verbal recall memory performance but relative sparing of visual and spatial recognition memory...
  27. 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...
  28. pmc Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype
    Simone Martinelli
    Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanita, Rome, Italy
    Am J Hum Genet 87:250-7. 2010
    ..These findings document that germline mutations in CBL alter development to cause a clinically variable condition that resembles NS and that possibly predisposes to malignancies...
  29. 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
  30. ncbi request reprint Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
    Bhaswati Pandit
    Center for Molecular Cardiology, Department of Pediatrics and Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, New York 10029, USA
    Nat Genet 39:1007-12. 2007
    ..Our findings further implicate increased RAS signaling in pathological cardiomyocyte hypertrophy...
  31. ncbi request reprint Activating PTPN11 mutations play a minor role in pediatric and adult solid tumors
    Simone Martinelli
    Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanita, Rome, Italy
    Cancer Genet Cytogenet 166:124-9. 2006
    ....
  32. doi request reprint Behavioral profile in RASopathies
    Paolo Alfieri
    Dipartimento di Neuroscienze, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy
    Am J Med Genet A 164:934-42. 2014
    ..Our findings indicate that mutations promoting dysregulation of the RAS-MAPK cascade mark an increased psychopathological risk and highlight that autistic-like behavior could be underdiagnosed in patients with RASopathies...
  33. pmc The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease
    Christian P Kratz
    University of California, Room HSE 302 Box 0519, San Francisco, CA 94143, USA
    Blood 106:2183-5. 2005
    ..This supports the need to characterize the spectrum of hematologic abnormalities in individuals with NS and to better define the impact of the PTPN11 lesion on the disease course in patients with NS/MPD and JMML...
  34. ncbi request reprint Novel SMAD4 mutation causing Myhre syndrome
    Viviana Caputo
    Dipartimento di Medicina Sperimentale, Sapienza Universita di Roma, Rome, Italy
    Am J Med Genet A 164:1835-40. 2014
    ..2014 Wiley Periodicals, Inc. ..
  35. pmc A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome
    Viviana Caputo
    Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanita, Rome, Italy
    Am J Hum Genet 90:161-9. 2012
    ....
  36. ncbi request reprint Genotyping of an Italian papillary thyroid carcinoma cohort revealed high prevalence of BRAF mutations, absence of RAS mutations and allowed the detection of a new mutation of BRAF oncoprotein (BRAF(V599lns))
    Claudio Carta
    Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanita, Rome, Italy
    Clin Endocrinol (Oxf) 64:105-9. 2006
    ..The aim of this study was to genotype for these mutations a cohort of thyroid tumours collected at our institutions...
  37. ncbi request reprint Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature
    Marjolijn Jongmans
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands
    Am J Med Genet A 134:165-70. 2005
    ..This confirms previous findings indicating that individuals with NS with specific mutations in PTPN11 are at risk of developing JMML...
  38. ncbi request reprint Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia
    Marco Tartaglia
    Department of Pediatrics, Mount Sinai School of Medicine, New York, New York, USA
    Nat Genet 34:148-50. 2003
    ..Functional analyses documented that the two most common mutations in PTPN11 associated with JMML caused a gain of function...
  39. ncbi request reprint Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction
    Bruce D Gelb
    Department of Pediatrics and Human Genetics, Mount Sinai School of Medicine, One Gustave Levy Place, Box 1040, New York, NY 10029, USA
    Hum Mol Genet 15:R220-6. 2006
    ..As these genes also encode proteins relevant for RAS-MAPK signal transduction, all of the syndromes discussed in this article now can be understood to constitute a class of disorders caused by dysregulated RAS-MAPK signaling...
  40. pmc Atrioventricular canal defect in patients with RASopathies
    Maria Cristina Digilio
    Department of Medical Genetics, Cytogenetics, Pediatric Cardiology, Bambino Gesu Pediatric Hospital, IRCCS, Piazza S Onofrio 4, Rome, Italy
    Eur J Hum Genet 21:200-4. 2013
    ..Familial segregation of atrioventricular canal defect should be considered in the genetic counselling of families with RASopathies...
  41. ncbi request reprint Rat nicastrin gene: cDNA isolation, mRNA variants and expression pattern analysis
    Annamaria Confaloni
    Department of Cellular Biology and Neuroscience, Istituto Superiore di Sanita, 299 Viale Regina Elena, 00161 Rome, Italy
    Brain Res Mol Brain Res 136:12-22. 2005
    ....
  42. ncbi request reprint Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation
    Alessandra Fragale
    Department of Pediatrics, Mount Sinai School of Medicine, New York, New York, USA
    Hum Mutat 23:267-77. 2004
    ....
  43. ncbi request reprint Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations
    Kimihiko Oishi
    Departments of Pediatrics and Human Genetics, Mount Sinai School of Medicine, One Gustave L Levy Place, Box 1498, New York, NY 10029, USA
    Hum Mol Genet 15:543-53. 2006
    ..In addition, these fly models can be used for sensitized screens to identify novel interacting genes as well as for high-throughput screening of therapeutic compounds for NS and PTPN11-related cancers...
  44. pmc Reactive oxygen species and epidermal growth factor are antagonistic cues controlling SHP-2 dimerization
    Aurelio Pio Nardozza
    Department of Biology, University of Rome Tor Vergata, Rome, Italy
    Mol Cell Biol 32:1998-2009. 2012
    ..Although this differential behavior cannot be rationalized mechanistically yet, these findings suggest a possible regulatory role of dimerization in SHP-2 function...
  45. ncbi request reprint Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome
    Andra Ion
    Department of Medical Genetics, St George s Medical School, Cranmer Terrace, London SW17ORE, UK
    Hum Genet 111:421-7. 2002
    ..The results showed no abnormalities in the coding region of the PTPN11 gene in any CFC patient, nor any evidence of major deletions within the gene suggesting that mutations in other gene(s) are responsible for this syndrome...
  46. ncbi request reprint Acquired PTPN11 mutations occur rarely in adult patients with myelodysplastic syndromes and chronic myelomonocytic leukemia
    Mignon L Loh
    Department of Pediatrics, University of California, San Francisco, CA, USA
    Leuk Res 29:459-62. 2005
    ..Here, we investigated contribution of PTPN11 mutations to adult MDS and CMML pathogenesis. Our results indicate that PTPN11 lesions might play a role in adult MDS/CMML pathogenesis but do not represent a major molecular event...
  47. ncbi request reprint Acute lymphoblastic leukaemia in Noonan syndrome
    Giovanni Roti
    Br J Haematol 133:448-50. 2006
  48. ncbi request reprint Early fetal death associated with compound heterozygosity for Noonan syndrome-causative PTPN11 mutations
    Kristin Becker
    North Wales Clinical Genetics Service, Glan Clwyd Hospital, Rhyl, and Institute of Medical Genetics, Universiyt Hospital of Wales, Cardiff, UK
    Am J Med Genet A 143:1249-52. 2007
  49. doi request reprint Efficient one-step chromatographic purification and functional characterization of recombinant human Saposin C
    Marialetizia Motta
    Department of Haematology, Oncology and Molecular Medicine, Istituto Superiore di Sanita, Viale Regina Elena 299, 00161 Rome, Italy
    Protein Expr Purif 78:209-15. 2011
    ..These findings document that the bacterially purified Sap C exerts biological properties functionally equivalent to those observed for the native protein, indicating its potential use in the development of therapeutic intervention...
  50. doi request reprint Increased sleep spindle activity in patients with Costello syndrome (HRAS gene mutation)
    Giacomo Della Marca
    Unit of Sleep Medicine, Department of Neuroscience, Catholic University, Rome, Italy
    J Clin Neurophysiol 28:314-8. 2011
    ..These "giant" spindles were not associated with any evidence of structural damage of the cortex or the thalami and should be considered as phenotypic feature of sleep EEG activity in Costello syndrome because of HRAS mutation...
  51. doi request reprint Induction of both CD8+ and CD4+ T-cell-mediated responses in colorectal cancer patients by colon antigen-1
    Cristina Maccalli
    Department of Cell Biology and Neurosciences, Istituto Superiore di Sanita, Italy
    Clin Cancer Res 14:7292-303. 2008
    ..Here, we evaluated whether a specific T-cell-mediated response directed against this molecule can occur in colorectal cancer patients...
  52. ncbi request reprint Hyperthrophic cardiomyopathy and the PTPN11 gene
    Anna Sarkozy
    Am J Med Genet A 136:93-4. 2005
  53. ncbi request reprint Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis
    Monica Dentice
    Dipartimento di Endocrinologia ed Oncologia Molecolare e Clinica, Universita di Napoli Federico II, Via S Pansin 5, 80131 Naples, Italy
    J Clin Endocrinol Metab 91:1428-33. 2006
    ..NKX2-5 encodes a homeodomain-containing transcription factor with a major role in heart development, and mutations affecting this gene have been reported in individuals with congenital heart disease...
  54. ncbi request reprint A competitive polymerase chain reaction-based approach for the identification and semiquantification of mitochondrial DNA in differently heat-treated bovine meat and bone meal
    Domenico Frezza
    Dipartimento di Biologia, Universita degli Studi di Roma Tor Vergata, Viale della Ricerca Scientifica, 00133 Rome, Italy
    J Food Prot 66:103-9. 2003
    ....