(Q39488869)

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HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome

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Europe PubMed Central

PubMed publication ID

12 September 2017

HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome (English)

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Europe PubMed Central

PubMed publication ID

12 September 2017

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Costello syndrome

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based on heuristic

inferred from title

cellular senescence

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author name string

Tetsuya Niihori

1

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Europe PubMed Central

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12 September 2017

Yoko Aoki

2

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12 September 2017

Nobuhiko Okamoto

3

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12 September 2017

Kenji Kurosawa

4

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12 September 2017

Hirofumi Ohashi

5

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12 September 2017

Seiji Mizuno

6

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12 September 2017

Hiroshi Kawame

7

1 reference

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12 September 2017

Johji Inazawa

8

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12 September 2017

Toshihiro Ohura

9

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12 September 2017

Hiroshi Arai

10

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12 September 2017

Shin Nabatame

11

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12 September 2017

Kiyoshi Kikuchi

12

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12 September 2017

Yoshikazu Kuroki

13

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12 September 2017

Masaru Miura

14

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12 September 2017

Toju Tanaka

15

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12 September 2017

Akira Ohtake

16

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12 September 2017

Isaku Omori

17

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12 September 2017

Kenji Ihara

18

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12 September 2017

Hiroyo Mabe

19

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12 September 2017

Kyoko Watanabe

20

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12 September 2017

Shinichi Niijima

21

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12 September 2017

Erika Okano

22

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12 September 2017

Hironao Numabe

23

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12 September 2017

Yoichi Matsubara

24

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12 September 2017

publication date

18 August 2011

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12 September 2017

Journal of Human Genetics

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12 September 2017

56

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12 September 2017

10

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12 September 2017

707-715

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12 September 2017

Costello syndrome: an overview

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

21 January 2018

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

21 January 2018

Germline mutations in HRAS proto-oncogene cause Costello syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

21 January 2018

HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

21 January 2018

HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

21 January 2018

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

21 January 2018

Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

21 January 2018

De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

21 January 2018

Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

21 January 2018

Severe, obstructive biventricular hypertrophy in a patient with Costello syndrome: Clinical impact and management.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

21 January 2018

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

21 January 2018

Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

21 January 2018

Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

21 January 2018

A premature infant with Costello syndrome due to a rare G13C HRAS mutation.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

21 January 2018

Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

21 January 2018

Comparative biochemical properties of normal and activated human ras p21 protein

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

21 January 2018

Relationship among guanine nucleotide exchange, GTP hydrolysis, and transforming potential of mutated ras proteins

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

21 January 2018

Impact of cellular senescence signature on ageing research

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

21 January 2018

Oncogenic ras provokes premature cell senescence associated with accumulation of p53 and p16INK4a

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

21 January 2018

Rb-mediated heterochromatin formation and silencing of E2F target genes during cellular senescence

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

21 January 2018

Oncogene-induced senescence is a DNA damage response triggered by DNA hyper-replication

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

21 January 2018

Oncogene-induced senescence is part of the tumorigenesis barrier imposed by DNA damage checkpoints

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

21 January 2018

Suppressing cancer: the importance of being senescent.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

21 January 2018

Further delineation of the behavioral and neurologic features in Costello syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

21 January 2018

A case of Costello syndrome and glycogen storage disease type III.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

21 January 2018

High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

21 January 2018

Costello syndrome and hyperinsulinemic hypoglycemia.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

21 January 2018

Expression of H-RASV12 in a zebrafish model of Costello syndrome causes cellular senescence in adult proliferating cells

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

21 January 2018

The adult phenotype in Costello syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

21 January 2018

Biological properties of human c-Ha-ras1 genes mutated at codon 12.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

21 January 2018

Analysis of the transforming potential of the human H-ras gene by random mutagenesis

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

21 January 2018

The HMG-CoA reductase inhibitor lovastatin reverses the learning and attention deficits in a mouse model of neurofibromatosis type 1

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

21 January 2018

Effect of simvastatin on cognitive functioning in children with neurofibromatosis type 1: a randomized controlled trial

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

21 January 2018

Statins and cancer risk: a meta-analysis

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

21 January 2018

Senescence comes of age

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

21 January 2018

Costello syndrome: clinical diagnosis in the first year of life

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

21 January 2018

The diagnosis of Costello syndrome: Nomenclature in Ras/MAPK pathway disorders

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

7 January 2021

based on heuristic

inferred from DOI database lookup

Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

7 January 2021

based on heuristic

inferred from DOI database lookup

Distal phalangeal creases--a distinctive dysmorphic feature in disorders of the RAS signalling pathway?

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

7 January 2021

based on heuristic

inferred from DOI database lookup

Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

7 January 2021

based on heuristic

inferred from DOI database lookup

Rapidly progressive scoliosis after successful treatment for osteopenia in Costello syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

7 January 2021

based on heuristic

inferred from DOI database lookup

Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

7 January 2021

based on heuristic

inferred from DOI database lookup

Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

7 January 2021

based on heuristic

inferred from DOI database lookup

Recurring G12S mutation of HRAS in a Chinese child with Costello syndrome with high alkaline phosphatase level

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

7 January 2021

based on heuristic

inferred from DOI database lookup

Structural differences between valine-12 and aspartate-12 Ras proteins may modify carcinoma aggression.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

7 January 2021

based on heuristic

inferred from DOI database lookup

Medical and surgical perspectives of cardiac hypertrophy in Costello syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

7 January 2021

based on heuristic

inferred from DOI database lookup

Costello syndrome with growth hormone deficiency and hypoglycemia: a new report and review of the endocrine associations

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

7 January 2021

based on heuristic

inferred from DOI database lookup

Growth hormone deficiency in Costello syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.85

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/JHG.2011.85

1 reference

Europe PubMed Central

PubMed publication ID

12 September 2017

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0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

12 September 2017

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