Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease (Q24540529)

6 July 2017

title

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

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6 July 2017

1 reference

6 July 2017

Peter D Emanuel

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Gianfranco Bocchinfuso

object named as

Gianfranco Bocchinfuso

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Lorenzo Stella

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Viviana Cordeddu

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Claudia Schoch

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6 July 2017

Robin Foa

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6 July 2017

Simone Martinelli

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6 July 2017

Antonio Palleschi

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6 July 2017

Tamara C Petrucci

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6 July 2017

Mariella Sorcini

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6 July 2017

Bruce D Gelb

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6 July 2017

Elisabetta Flex

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6 July 2017

Giuseppe Zampino

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6 July 2017

Ineke van der Burgt

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6 July 2017

language of work or name

English

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publication date

7 December 2005

1 reference

American Journal of Human Genetics

6 July 2017

published in

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6 July 2017

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6 July 2017

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6 July 2017

page(s)

279-290

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Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene

6 July 2017

cites work

1 reference

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

24 March 2017

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24 March 2017

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24 March 2017

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Germ-line and somatic PTPN11 mutations in human disease

24 March 2017

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Mutations of PTPN11 are rare in adult myeloid malignancies

24 March 2017

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PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome

24 March 2017

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24 March 2017

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

27 September 2017

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Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia

27 September 2017

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Functional analysis of leukemia-associated PTPN11 mutations in primary hematopoietic cells

27 September 2017

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Human somatic PTPN11 mutations induce hematopoietic-cell hypersensitivity to granulocyte-macrophage colony-stimulating factor

27 September 2017

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27 September 2017

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Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome.

27 September 2017

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Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.

27 September 2017

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27 September 2017

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

27 September 2017

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SHP-2 and myeloid malignancies

27 September 2017

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27 September 2017

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

27 September 2017

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Structural and evolutionary relationships among protein tyrosine phosphatase domains

27 September 2017

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Requirement of Shp-2 tyrosine phosphatase in lymphoid and hematopoietic cell development

27 September 2017

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Juvenile myelomonocytic leukemia and Noonan syndrome

27 September 2017

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Activated mutants of SHP-2 preferentially induce elongation of Xenopus animal caps

27 September 2017

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Biased suppression of hematopoiesis and multiple developmental defects in chimeric mice containing Shp-2 mutant cells

27 September 2017

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A Deletion Mutation in the SH2-N Domain of Shp-2 Severely Suppresses Hematopoietic Cell Development

27 September 2017

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Occurrence of myeloproliferative disorder in patients with Noonan syndrome

27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes

27 September 2017

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30 May 2018

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Differences in the prevalence of PTPN11 mutations in FAB M5 paediatric acute myeloid leukaemia

30 May 2018

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Prenatal DNA diagnosis of Noonan syndrome in a fetus with massive hygroma colli, pleural effusion and ascites

29 November 2018

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Noonan-like syndrome mutations in PTPN11 in patients diagnosed with cherubism

29 November 2018

1 reference

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PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome

29 November 2018

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PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome.

29 November 2018

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Neurofibromatosis-Noonan syndrome: Molecular evidence of the concurrence of both disorders in a patient

29 November 2018

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Acute myeloid leukemia in an adult Noonan syndrome patient with PTPN11 mutation.

29 November 2018

1 reference

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A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy

29 November 2018

1 reference

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Somatic PTPN11 mutations in childhood acute myeloid leukaemia

29 November 2018

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Methylation status of the p15 and p16 genes in paediatric myelodysplastic syndrome and juvenile myelomonocytic leukaemia

29 November 2018

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Low frequency of exon 3 PTPN11 mutations in adult de novo acute myeloid leukemia. Analysis of a consecutive series of 173 patients

29 November 2018

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Acquired PTPN11 mutations occur rarely in adult patients with myelodysplastic syndromes and chronic myelomonocytic leukemia

29 November 2018

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

29 November 2018

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Prognostic, therapeutic, and mechanistic implications of a mouse model of leukemia evoked by Shp2 (PTPN11) mutations.

29 November 2018

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Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.

29 November 2018

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Noonan syndrome type I with PTPN11 3 bp deletion: structure-function implications.

29 November 2018

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A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380235

PTPN11 mutations in pediatric patients with acute myeloid leukemia: results from the Children's Cancer Group

29 November 2018

1 reference

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Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation.

29 November 2018

1 reference

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Somatic PTPN11 mutation with a heterogeneous clonal origin in children with juvenile myelomonocytic leukemia

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380235

Mutations in PTPN11 are uncommon in adult myelodysplastic syndromes and acute myeloid leukaemia

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380235

Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380235

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

29 November 2018

1 reference

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A novel PTPN11 mutation in LEOPARD syndrome.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380235

Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380235

Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380235

PTPN11 mutation in a young man with Noonan syndrome and retinitis pigmentosa.

29 November 2018

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Noonan syndrome with leukaemoid reaction and overproduction of catecholamines: a case report

29 November 2018

1 reference

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380235

Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome

29 November 2018

1 reference

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PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning

29 November 2018

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PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.

29 November 2018

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29 November 2018

1 reference

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The SH2 tyrosine phosphatase shp2 is required for mammalian limb development.

29 November 2018

1 reference

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29 November 2018

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Molecular dynamics simulations of human glutathione transferase P1-1: analysis of the induced-fit mechanism by GSH binding

29 November 2018

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Development of a human acute myeloid leukaemia screening panel and consequent identification of novel gene mutation in FLT3 and CCND3

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Juvenile myelomonocytic leukemia

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A 3-bp deletion mutation of PTPN11 in an infant with severe Noonan syndrome including hydrops fetalis and juvenile myelomonocytic leukemia

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12 December 2020

Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome

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12 December 2020

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Clinical and molecular studies in a large Dutch family with Noonan syndrome

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The SH2-containing protein-tyrosine phosphatase SH-PTP2 is required upstream of MAP kinase for early Xenopus development

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PTPN11 mutations play a minor role in isolated congenital heart disease

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12 December 2020

Mice mutant for Egfr and Shp2 have defective cardiac semilunar valvulogenesis

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Spontaneous remission of juvenile chronic myelomonocytic leukemia in an infant with Noonan syndrome

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Hypertelorism With Turner Phenotype

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GROMACS 3.0: a package for molecular simulation and trajectory analysis

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7 January 2021

Multiple lentigines syndrome

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7 January 2021

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Prevalence of priapism in children and adolescents with sickle cell anemia

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Identifiers

DOI

10.1086/499925

1 reference

OpenCitations bibliographic resource ID

6 July 2017

3389319

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

6 July 2017

1 reference