Research Topics
Genomes and Genes | Marco TartagliaSummaryAffiliation: Istituto Superiore di Sanit Country: Italy Publications
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Publications
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneityMarco 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...
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrumAnna 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...- Noonan syndrome and clinically related disordersMarco 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... 
Fibroblast growth factor receptor mutational screening in newborns affected by metopic synostosisM 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....- Somatic PTPN11 mutations in childhood acute myeloid leukaemiaMarco 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... - Germ-line and somatic PTPN11 mutations in human diseaseMarco 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... - Noonan syndrome and related disorders: genetics and pathogenesisMarco 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... - Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndromeMarco Tartaglia
Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanita, Rome, Italy
Am J Hum Genet 75:492-7. 2004.... - Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemiaMarco 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... - Diversity and functional consequences of germline and somatic PTPN11 mutations in human diseaseMarco 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... - SHP-2 and myeloid malignanciesMarco 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... - Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanismsMarco Tartaglia
Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanita, Rome, Italy
Ann N Y Acad Sci 1214:99-121. 2010.... - Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndromeMarco 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... - RAS signaling dysregulation in human embryonal RhabdomyosarcomaSimone 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... - Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascadeLaura Cesarini
Pediatric Neurology Unit, Catholic University, Rome, Italy
Am J Med Genet A 149:140-6. 2009.... - Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromesSimone 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.... - Structural and functional effects of disease-causing amino acid substitutions affecting residues Ala72 and Glu76 of the protein tyrosine phosphatase SHP-2Gianfranco Bocchinfuso
Dipartimento di Scienze e Tecnologie Chimiche, Universita di Roma Tor Vergata, Rome, Italy
Proteins 66:963-74. 2007.... - Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlationsMaria 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... - Long term memory profile of disorders associated with dysregulation of the RAS-MAPK signaling cascadePaolo 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... - Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndromeGiuseppe 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... - Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotypeClaudio Carta
Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanita, Rome, Italy
Am J Hum Genet 79:129-35. 2006.... - Activating PTPN11 mutations play a minor role in pediatric and adult solid tumorsSimone Martinelli
Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanit, Rome, Italy
Cancer Genet Cytogenet 166:124-9. 2006.... - NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndromeAlessandro 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... - Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathyBhaswati 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... - Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hairViviana 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... - Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotypeSimone 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... - Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromesAnna Sarkozy
IRCCS-CSS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy
Am J Med Genet A 143:1009-11. 2007 - 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 syndromeSimone Martinelli
Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanita, 00161 Rome, Italy
J Biol Chem 287:27066-77. 2012.... - The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative diseaseChristian 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... - 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 Sanit, Rome, Italy
Clin Endocrinol (Oxf) 64:105-9. 2006..Together, BRAF mutations and rarer RET rearrangements accounted for a genetic event in two-thirds of PTCs. This study showed a novel and presumably oncogenic mutation of BRAF, which is BRAF(V599Ins)... - Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transductionBruce 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... - Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemiaMarco 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... - Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literatureMarjolijn 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... - A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndromeViviana Caputo
Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanita, Rome, Italy
Am J Hum Genet 90:161-9. 2012.... - Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemiaElisabetta 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... - Rat nicastrin gene: cDNA isolation, mRNA variants and expression pattern analysisAnnamaria 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.... - Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activationAlessandra Fragale
Department of Pediatrics, Mount Sinai School of Medicine, New York, New York, USA
Hum Mutat 23:267-77. 2004.... - Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutationsKimihiko 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... - Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndromeAndra 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... - Acquired PTPN11 mutations occur rarely in adult patients with myelodysplastic syndromes and chronic myelomonocytic leukemiaMignon 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... - Early fetal death associated with compound heterozygosity for Noonan syndrome-causative PTPN11 mutationsKristin 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 - Acute lymphoblastic leukaemia in Noonan syndromeGiovanni Roti
Br J Haematol 133:448-50. 2006 - Reactive oxygen species and epidermal growth factor are antagonistic cues controlling SHP-2 dimerizationAurelio 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... - Efficient one-step chromatographic purification and functional characterization of recombinant human Saposin CMarialetizia 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... - Induction of both CD8+ and CD4+ T-cell-mediated responses in colorectal cancer patients by colon antigen-1Cristina 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... - 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... - Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesisMonica 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... - Hyperthrophic cardiomyopathy and the PTPN11 geneAnna Sarkozy
Am J Med Genet A 136:93-4. 2005 - A competitive polymerase chain reaction-based approach for the identification and semiquantification of mitochondrial DNA in differently heat-treated bovine meat and bone mealDomenico 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....