(Q35903618)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22253195%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

title

Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22253195%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1 reference

Margherita Cirillo Silengo

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22253195%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Marco Tartaglia

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22253195%20AND%20SRC:MED&resulttype=core&format=json

Giovanni Battista Ferrero

20 January 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22253195%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Claudio Isella

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22253195%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Laura Mazzanti

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22253195%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

C Rossi

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22253195%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Enzo Medico

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22253195%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

author name string

Gabriele Picco

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22253195%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Giuseppina Baldassarre

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22253195%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Elisabetta Flex

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22253195%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Daniela Cantarella

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22253195%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Davide Corà

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22253195%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Nicoletta Chiesa

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22253195%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Nicoletta Crescenzio

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22253195%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Fabio Timeus

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22253195%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Giuseppe Merla

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22253195%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Giuseppe Zampino

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22253195%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

publication date

14 February 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22253195%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22253195%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

volume

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22253195%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22253195%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

page(s)

703-709

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22253195%20AND%20SRC:MED&resulttype=core&format=json

Noonan syndrome and clinically related disorders

20 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332054

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332054

GATA4 regulates ANF expression synergistically with Sp1 in a cardiac hypertrophy model

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332054

Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332054

Noonan syndrome: clinical aspects and molecular pathogenesis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332054

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332054

Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332054

The scaffold protein Shoc2/SUR-8 accelerates the interaction of Ras and Raf.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332054

The tyrosine phosphatase Shp2 (PTPN11) directs Neuregulin-1/ErbB signaling throughout Schwann cell development

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332054

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332054

Transcriptional control of pacemaker channel genes HCN2 and HCN4 by Sp1 and implications in re-expression of these genes in hypertrophied myocytes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332054

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332054

An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332054

KEA: kinase enrichment analysis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332054

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332054

M-CSF signals through the MAPK/ERK pathway via Sp1 to induce VEGF production and induces angiogenesis in vivo

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332054

Protein tyrosine phosphatases in the JAK/STAT pathway

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332054

The molecular functions of Shp2 in the Ras/Mitogen-activated protein kinase (ERK1/2) pathway

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332054

Genes2Networks: connecting lists of gene symbols using mammalian protein interactions databases

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332054

Analysis of potential transcriptomic biomarkers for Huntington's disease in peripheral blood

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332054

Hyperactive Ras in developmental disorders and cancer

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332054

Restored plasticity in a mouse model of neurofibromatosis type 1 via inhibition of hyperactive ERK and CREB.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332054

FLAME, a novel fuzzy clustering method for the analysis of DNA microarray data

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332054

A phosphatase holoenzyme comprised of Shoc2/Sur8 and the catalytic subunit of PP1 functions as an M-Ras effector to modulate Raf activity

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332054

Molecular classification of Crohn's disease and ulcerative colitis patients using transcriptional profiles in peripheral blood mononuclear cells

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332054

oPOSSUM: identification of over-represented transcription factor binding sites in co-expressed genes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332054

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332054

The zinc finger transcription factor Growth factor independence 1 (Gfi1).

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332054

Src family kinases, key regulators of signal transduction

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332054

Transcription profiling of inner ears from Pou4f3(ddl/ddl) identifies Gfi1 as a target of the Pou4f3 deafness gene

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332054

MAPK and JNK transduction pathways can phosphorylate Sp1 to activate the uPA minimal promoter element and endogenous gene transcription

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332054

Shp2 regulates SRC family kinase activity and Ras/Erk activation by controlling Csk recruitment

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332054

The 'Shp'ing news: SH2 domain-containing tyrosine phosphatases in cell signaling

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332054

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332054

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332054

Neuregulin-1-stimulated phosphorylation of GABP in skeletal muscle cells

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332054

Cell-cycle-dependent activation of mitogen-activated protein kinase kinase (MEK-1/2) in myeloid leukemia cell lines and induction of growth inhibition and apoptosis by inhibitors of RAS signaling

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332054

Audiologic manifestations of Noonan syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332054

Raf-1 kinase targets GA-binding protein in transcriptional regulation of the human immunodeficiency virus type 1 promoter.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332054

A module of negative feedback regulators defines growth factor signaling

11 July 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22026

Myocardial transcription factors are modulated during pathologic cardiac hypertrophy in vivo.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22026

GATHER: a systems approach to interpreting genomic signatures

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22026

Growth factor independence 1 protects hematopoietic stem cells against apoptosis but also prevents the development of a myeloproliferative-like disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22026

Noonan-like syndrome with loose anagen hair: a new syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22026

Bilateral cochlear implantation in children with Noonan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22026

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332054

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

14 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22253195

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

1 reference

https://pubmed.ncbi.nlm.nih.gov/22253195

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.22026

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22253195%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22253195%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

PubMed publication ID

22253195

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22253195%20AND%20SRC:MED&resulttype=core&format=json