Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis (Q24294030)

regulation of ERK1 and ERK2 cascade

GOA release 2020-03-11

1 reference

R-RAS related CELE_C44C11.1

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

1 reference

41

0 references

Radovan Dvorsky

10

0 references

Giuseppe Zampino

33

0 references

Hélène Cavé

46

1 reference

ORCID Public Data File 2021

Mamta Jaiswal

2

0 references

Marco Tartaglia

48

0 references

Francesca Lepri

9

0 references

Francesca Pantaleoni

3

0 references

Alessandro De Luca

8

0 references

Gianfranco Bocchinfuso

15

0 references

Elisabetta Flex

1

0 references

Serena Cecchetti

20

0 references

Rosangela Ferese

Rosangela Ferese

21

0 references

Elia Di Schiavi

Elia Di Schiavi

38

0 references

Alessandra Carè

Alessandra Carè

39

0 references

Lorenzo Stella

Lorenzo Stella

43

0 references

0 references

44

Martin Zenker

0 references

Mignon L Loh

36

Mignon L Loh

0 references

Helger G Yntema

28

Helger G Yntema

0 references

author name string

Simone Martinelli

4

0 references

Marion Strullu

5

0 references

Eyad K Fansa

6

0 references

Aurélie Caye

7

0 references

Luca Pannone

11

0 references

Stefano Paolacci

12

0 references

Si-Cai Zhang

13

0 references

Valentina Fodale

14

0 references

Cesare Rossi

16

0 references

Emma M M Burkitt-Wright

17

0 references

Andrea Farrotti

18

0 references

Emilia Stellacci

19

0 references

Lisabianca Bottero

22

0 references

Silvana Castro

23

0 references

Odile Fenneteau

24

0 references

Benoît Brethon

25

0 references

Massimo Sanchez

26

0 references

Amy E Roberts

27

0 references

Ineke Van Der Burgt

29

0 references

Paola Cianci

30

0 references

Marie-Louise Bondeson

31

0 references

Maria Cristina Digilio

32

0 references

Bronwyn Kerr

34

0 references

Yoko Aoki

35

0 references

Antonio Palleschi

37

0 references

Angelo Selicorni

40

0 references

Ion C Cirstea

42

0 references

Bruce D Gelb

45

0 references

Mohammad R Ahmadian

Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome

47

0 references

language of work or name

English

0 references

publication date

15 August 2014

0 references

published in

Human Molecular Genetics

0 references

volume

23

0 references

issue

16

0 references

page(s)

4315-27

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

The Ras-ERK and PI3K-mTOR pathways: cross-talk and compensation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

The cardiofaciocutaneous syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

The Ras-RasGAP Complex: Structural Basis for GTPase Activation and Its Loss in Oncogenic Ras Mutants

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

Structure of the human and murine R-ras genes, novel genes closely related to ras proto-oncogenes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

Shp2 knockdown and Noonan/LEOPARD mutant Shp2-induced gastrulation defects

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

Molecular switch for signal transduction: structural differences between active and inactive forms of protooncogenic ras proteins

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

Three-dimensional structures of H-ras p21 mutants: molecular basis for their inability to function as signal switch molecules

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

Efficient gene transfer in C.elegans: extrachromosomal maintenance and integration of transforming sequences

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

RAS oncogenes: weaving a tumorigenic web

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

The molecular pathology of cancer

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

Germline mutations in HRAS proto-oncogene cause Costello syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

Multiple lentigines syndrome. Case report and review of the literature

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

Hyperactive Ras in developmental disorders and cancer

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

The Ras superfamily at a glance

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

Diverging gain-of-function mechanisms of two novel KRAS mutations associated with Noonan and cardio-facio-cutaneous syndromes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

Genes2FANs: connecting genes through functional association networks

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

Biochemical assays to characterize Rho GTPases

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

Recent advances in the pathogenesis and treatment of juvenile myelomonocytic leukaemia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

Noonan syndrome and clinically related disorders

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

Detection of two novel mutations and relatively high incidence of H-RAS mutations in Vietnamese oral cancer

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

In vitro GEF and GAP assays.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

Noonan syndrome/leukemia-associated gain-of-function mutations in SHP-2 phosphatase (PTPN11) enhance cell migration and angiogenesis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

Juvenile myelomonocytic leukemia and chronic myelomonocytic leukemia.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

Mapping the nucleotide and isoform-dependent structural and dynamical features of Ras proteins

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

Paediatric myelodysplastic syndromes and juvenile myelomonocytic leukaemia: molecular classification and treatment options

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

Integrating signals from RTKs to ERK/MAPK.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

Fluorescence approaches for monitoring interactions of Rho GTPases with nucleotides, regulators, and effectors.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

Signaling interplay in Ras superfamily function

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

Tumor predisposition in Costello syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

R-Ras controls membrane protrusion and cell migration through the spatial regulation of Rac and Rho

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

Protruding vulva mutants identify novel loci and Wnt signaling factors that function during Caenorhabditis elegans vulva development

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

Differential roles of Akt, Rac, and Ral in R-Ras-mediated cellular transformation, adhesion, and survival

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

Molecular switch in signal transduction: reaction paths of the conformational changes in ras p21.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

Oncogenic activation of human R-ras by point mutations analogous to those of prototype H-ras oncogenes.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

R-Ras induces malignant, but not morphologic, transformation of NIH3T3 cells

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

Characterization of the hinges of the effector loop in the reaction pathway of the activation of ras-proteins. Kinetics of binding of beryllium trifluoride to V29G and I36G mutants of Ha-ras-p21.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

Calculation of pathways for the conformational transition between the GTP- and GDP-bound states of the Ha-ras-p21 protein: calculations with explicit solvent simulations and comparison with calculations in vacuum.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

Biochemical characterization of a novel KRAS insertion mutation from a human leukemia

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103678

EGFR and K-ras mutations along the spectrum of pulmonary epithelial tumors of the lung and elaboration of a combined clinicopathologic and molecular scoring system to predict clinical responsiveness to EGFR inhibitors.

30 May 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU148

Structure-based mutagenesis reveals distinct functions for Ras switch 1 and switch 2 in Sos-catalyzed guanine nucleotide exchange

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU148

ced-10 Rac and mig-2 function redundantly and act with unc-73 trio to control the orientation of vulval cell divisions and migrations in Caenorhabditis elegans

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU148

R-Ras can activate the phosphoinositide 3-kinase but not the MAP kinase arm of the Ras effector pathways.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU148

Gene mutations in the Ras pathway and the prognostic implication in Korean patients with juvenile myelomonocytic leukemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU148

Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU148

Multiple lentigines syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU148

Genetic typing of CBL, ASXL1, RUNX1, TET2 and JAK2 in juvenile myelomonocytic leukaemia reveals a genetic profile distinct from chronic myelomonocytic leukaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU148

Particle mesh Ewald: An N⋅log(N) method for Ewald sums in large systems

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU148

Molecular dynamics with coupling to an external bath

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU148

Structural and functional effects of disease-causing amino acid substitutions affecting residues Ala72 and Glu76 of the protein tyrosine phosphatase SHP-2

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU148

A novel somatic K-Ras mutation in juvenile myelomonocytic leukemia

21 January 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/24705357

12 December 2020

Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/24705357

12 December 2020

Genotype-phenotype correlation in cases of juvenile myelomonocytic leukemia with clonal RAS mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/24705357

12 December 2020

Autoimmunity and persistent RAS-mutated clones long after the spontaneous regression of JMML

1 reference

https://pubmed.ncbi.nlm.nih.gov/24705357

12 December 2020

https://pubmed.ncbi.nlm.nih.gov/24705357

1 reference

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/24705357

12 December 2020

An activated mutant of R-Ras inhibits cell death caused by cytokine deprivation in BaF3 cells in the presence of IGF-I

1 reference

https://pubmed.ncbi.nlm.nih.gov/24705357

12 December 2020

Identifiers

DOI

10.1093/HMG/DDU148

1 reference

1 reference

1 reference

PubMed publication ID

24705357

1 reference