List of works - Marco Tartaglia

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

scientific article

Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia

scientific article published in June 2003

Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome

scientific article

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

scientific article

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity

scientific article

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

scientific article published on 13 December 2006

Noonan syndrome

scientific article

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

scientific article

Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease

scientific article

Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia

scientific article

Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia

scientific article published on 24 February 2004

Noonan syndrome and clinically related disorders

scientific article

Noonan syndrome and related disorders: genetics and pathogenesis

scientific article

A restricted spectrum of NRAS mutations causes Noonan syndrome

scientific article

Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype

scientific article

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

scientific article

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum

scientific article

Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation

scientific article published on March 2004

Noonan syndrome: clinical aspects and molecular pathogenesis

scientific article

Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction

scientific article published on October 2006

The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease

scientific article published on 31 May 2005

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.

scientific article published on 27 April 2015

Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms

scientific article

Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis

scientific article

Germ-line and somatic PTPN11 mutations in human disease

scientific article

Diversity, parental germline origin, and phenotypic spectrum of de novoHRASmissense changes in Costello syndrome

RAS signaling dysregulation in human embryonal Rhabdomyosarcoma

scientific article published in November 2009

NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome

scientific article

Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice

scientific article

Mutation of the receptor tyrosine phosphatase PTPRC (CD45) in T-cell acute lymphoblastic leukemia

scientific article

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

scientific article

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations

scientific article

Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back

scientific article published in January 2010

Genotypic and phenotypic characterization of Noonan syndrome: New data and review of the literature

article

Decreased proliferation and altered differentiation in osteoblasts from genetically and clinically distinct craniosynostotic disorders

scientific article published on May 1999

Somatic PTPN11 mutations in childhood acute myeloid leukaemia

scientific article

Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade.

scientific article published in February 2009

SHP-2 and myeloid malignancies

scientific article

Mutations in PAX2 associate with adult-onset FSGS

scientific article

Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development

scientific article published on 11 October 2008

Mutations in ZBTB20 cause Primrose syndrome

scientific article

Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes

scientific article

A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer

scientific article

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.

scientific article published on 5 November 2014

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)).

scientific article published in January 2006

PTPN2 negatively regulates oncogenic JAK1 in T-cell acute lymphoblastic leukemia

scientific article published on 6 May 2011

Acute lymphoblastic leukemia-associated JAK1 mutants activate the Janus kinase/STAT pathway via interleukin-9 receptor alpha homodimers

scientific article

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

scientific article

Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations

scientific article published on 6 January 2006

Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome

scientific article

List of works by Marco Tartaglia

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia

Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

Noonan syndrome

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease

Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia

Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia

Noonan syndrome and clinically related disorders

Noonan syndrome and related disorders: genetics and pathogenesis

A restricted spectrum of NRAS mutations causes Noonan syndrome

Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum

Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation

Noonan syndrome: clinical aspects and molecular pathogenesis

Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction

The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.

Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms

Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis

Germ-line and somatic PTPN11 mutations in human disease

Diversity, parental germline origin, and phenotypic spectrum of de novoHRASmissense changes in Costello syndrome

RAS signaling dysregulation in human embryonal Rhabdomyosarcoma

NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome

Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice

Mutation of the receptor tyrosine phosphatase PTPRC (CD45) in T-cell acute lymphoblastic leukemia

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations

Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back

Genotypic and phenotypic characterization of Noonan syndrome: New data and review of the literature

Decreased proliferation and altered differentiation in osteoblasts from genetically and clinically distinct craniosynostotic disorders

Somatic PTPN11 mutations in childhood acute myeloid leukaemia

Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade.

SHP-2 and myeloid malignancies

Mutations in PAX2 associate with adult-onset FSGS

Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development

Mutations in ZBTB20 cause Primrose syndrome

Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes

A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.

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)).

PTPN2 negatively regulates oncogenic JAK1 in T-cell acute lymphoblastic leukemia

Acute lymphoblastic leukemia-associated JAK1 mutants activate the Janus kinase/STAT pathway via interleukin-9 receptor alpha homodimers

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations

Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome