(Q24294180)

English

Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation

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scholarly article

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Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation (English)

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Noonan syndrome

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ORCID Public Data File 2021

Gabriele Gillessen-Kaesbach

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Dagmar Wieczorek

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object named as

Alain Verloes

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author name string

Tomoko Kobayashi

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Yoko Aoki

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Tetsuya Niihori

3

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Nobuhiko Okamoto

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Hiroshi Kawame

7

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Ikuma Fujiwara

8

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Fumio Takada

9

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Takako Ohata

10

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Satoru Sakazume

11

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Tatsuya Ando

12

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Noriko Nakagawa

13

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Pablo Lapunzina

14

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Antonio G Meneses

15

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Kenji Kurosawa

18

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Seiji Mizuno

19

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Hirofumi Ohashi

20

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Albert David

21

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Nicole Philip

22

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Afag Guliyeva

23

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Yoko Narumi

24

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Shigeo Kure

25

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Shigeru Tsuchiya

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Yoichi Matsubara

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language of work or name

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publication date

March 2010

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31

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284-94

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3

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Phosphatase and feedback regulation of Raf-1 signaling

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https://api.crossref.org/works/10.1002%2FHUMU.21187

21 January 2018

Noonan syndrome: the changing phenotype.

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https://api.crossref.org/works/10.1002%2FHUMU.21187

7 January 2021

based on heuristic

inferred from DOI database lookup

Germline mutations in HRAS proto-oncogene cause Costello syndrome

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https://api.crossref.org/works/10.1002%2FHUMU.21187

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.21187

7 January 2021

based on heuristic

inferred from DOI database lookup

Stops along the RAS pathway in human genetic disease

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https://api.crossref.org/works/10.1002%2FHUMU.21187

7 January 2021

based on heuristic

inferred from DOI database lookup

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype

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https://api.crossref.org/works/10.1002%2FHUMU.21187

7 January 2021

based on heuristic

inferred from DOI database lookup

Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype

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https://api.crossref.org/works/10.1002%2FHUMU.21187

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

https://api.crossref.org/works/10.1002%2FHUMU.21187

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical and molecular characterization of 40 patients with Noonan syndrome.

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https://api.crossref.org/works/10.1002%2FHUMU.21187

7 January 2021

based on heuristic

inferred from DOI database lookup

Costello syndrome: an overview

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21187

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21187

7 January 2021

based on heuristic

inferred from DOI database lookup

PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21187

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

https://api.crossref.org/works/10.1002%2FHUMU.21187

7 January 2021

based on heuristic

inferred from DOI database lookup

Noonan syndrome caused by germline KRAS mutation in Taiwan: report of two patients and a review of the literature

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21187

7 January 2021

based on heuristic

inferred from DOI database lookup

Noonan syndrome: a review

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21187

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21187

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21187

7 January 2021

based on heuristic

inferred from DOI database lookup

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21187

7 January 2021

based on heuristic

inferred from DOI database lookup

CRAF autophosphorylation of serine 621 is required to prevent its proteasome-mediated degradation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21187

7 January 2021

based on heuristic

inferred from DOI database lookup

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21187

7 January 2021

based on heuristic

inferred from DOI database lookup

Germline gain-of-function mutations in RAF1 cause Noonan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21187

7 January 2021

based on heuristic

inferred from DOI database lookup

New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21187

7 January 2021

based on heuristic

inferred from DOI database lookup

Germline gain-of-function mutations in SOS1 cause Noonan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21187

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

https://api.crossref.org/works/10.1002%2FHUMU.21187

7 January 2021

based on heuristic

inferred from DOI database lookup

Germline KRAS mutations cause Noonan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21187

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

https://api.crossref.org/works/10.1002%2FHUMU.21187

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

https://api.crossref.org/works/10.1002%2FHUMU.21187

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

https://api.crossref.org/works/10.1002%2FHUMU.21187

7 January 2021

based on heuristic

inferred from DOI database lookup

Noonan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21187

7 January 2021

based on heuristic

inferred from DOI database lookup

Loss of RAF kinase inhibitor protein is a somatic event in the pathogenesis of therapy-related acute myeloid leukemias with C-RAF germline mutations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21187

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

https://api.crossref.org/works/10.1002%2FHUMU.21187

7 January 2021

based on heuristic

inferred from DOI database lookup

Genotype-phenotype correlations in Noonan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21187

7 January 2021

based on heuristic

inferred from DOI database lookup

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21187

7 January 2021

based on heuristic

inferred from DOI database lookup

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21187

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.21187

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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