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Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
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scholarly article
1 reference
stated in
PubMed
PubMed ID
17603483
retrieved
16 November 2016
title
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
(English)
1 reference
stated in
PubMed
PubMed ID
17603483
retrieved
16 November 2016
main subject
hypertrophic cardiomyopathy
1 reference
based on heuristic
inferred from title
author
Bruno Dallapiccola
series ordinal
27
0 references
Giuseppe Zampino
series ordinal
25
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Wendy Schackwitz
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8
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Anna Sarkozy
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2
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Marco Tartaglia
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28
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Francesca Lepri
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14
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Claudio Carta
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4
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Laura Mazzanti
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21
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Andrew P. Landstrom
object named as
Andrew Landstrom
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10
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Bruce D. Gelb
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29
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Michael J Ackerman
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26
object named as
Michael J Ackerman
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Len A. Pennacchio
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3
object named as
Len A Pennacchio
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Anna Ustaszewska
series ordinal
9
object named as
Anna Ustaszewska
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Bhaswati Pandit
series ordinal
1
object named as
Bhaswati Pandit
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author name string
Steve R Ommen
series ordinal
12
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Simone Martinelli
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6
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Romano Tenconi
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18
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Peter Mundel
series ordinal
16
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Maria C Digilio
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24
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Kimihiko Oishi
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5
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Juan P López Siguero
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17
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J Martijn Bos
series ordinal
11
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Isabella Torrente
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22
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Giorgia Esposito
series ordinal
13
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Edgar A Pogna
series ordinal
7
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Christian Faul
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15
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Cesare Rossi
series ordinal
20
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Bruno Marino
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23
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Angelo Selicorni
series ordinal
19
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language of work or name
English
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publication date
August 2007
0 references
published in
Nature Genetics
1 reference
stated in
PubMed
volume
39
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page(s)
1007-12
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issue
8
0 references
cites work
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG2073
retrieved
21 January 2018
High incidence of malformation syndromes in a series of 1,073 children with cancer.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG2073
retrieved
21 January 2018
Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG2073
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG2073
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Germline KRAS mutations cause Noonan syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG2073
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG2073
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Germline gain-of-function mutations in SOS1 cause Noonan syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG2073
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG2073
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG2073
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Germline mutations in HRAS proto-oncogene cause Costello syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG2073
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG2073
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG2073
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG2073
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG2073
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cardiologic abnormalities in Noonan syndrome: phenotypic diagnosis and echocardiographic assessment of 118 patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG2073
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG2073
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The RAF proteins take centre stage
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG2073
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations of C-RAF are rare in human cancer because C-RAF has a low basal kinase activity compared with B-RAF
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG2073
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Two transforming C-RAF germ-line mutations identified in patients with therapy-related acute myeloid leukemia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG2073
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Patterns of somatic mutation in human cancer genomes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG2073
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Interaction of 14-3-3 with signaling proteins is mediated by the recognition of phosphoserine
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG2073
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
14-3-3 antagonizes Ras-mediated Raf-1 recruitment to the plasma membrane to maintain signaling fidelity
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG2073
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG2073
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Role of raf proteins in cardiac hypertrophy and cardiomyocyte survival
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG2073
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The MEK1-ERK1/2 signaling pathway promotes compensated cardiac hypertrophy in transgenic mice
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG2073
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Ventricular expression of a MLC-2v-ras fusion gene induces cardiac hypertrophy and selective diastolic dysfunction in transgenic mice.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG2073
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cardiac-specific disruption of the c-raf-1 gene induces cardiac dysfunction and apoptosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG2073
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG2073
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG2073
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1038/NG2073
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
725410
Dimensions Publication ID
1045898127
0 references
OpenCitations bibliographic resource ID
725410
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
725410
PubMed ID
17603483
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
725410
ResearchGate publication ID
6235062
0 references
Springer Nature article ID
10.1038/ng2073
0 references
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