(Q39649795)

13 September 2017

title

Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies (English)

1 reference

13 September 2017

5

Raoul C M Hennekam

1 reference

13 September 2017

9

Yoriko Watanabe

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20882035

23 July 2024

author name string

Shoko Komatsuzaki

1

1 reference

13 September 2017

Yoko Aoki

2

1 reference

13 September 2017

Tetsuya Niihori

3

1 reference

13 September 2017

Nobuhiko Okamoto

4

1 reference

13 September 2017

Saskia Hopman

6

1 reference

13 September 2017

Hirofumi Ohashi

7

1 reference

13 September 2017

Seiji Mizuno

8

1 reference

13 September 2017

Hotaka Kamasaki

10

1 reference

13 September 2017

Ikuko Kondo

11

1 reference

13 September 2017

Nobuko Moriyama

12

1 reference

13 September 2017

Kenji Kurosawa

13

1 reference

13 September 2017

Hiroshi Kawame

14

1 reference

13 September 2017

Ryuhei Okuyama

15

1 reference

13 September 2017

Masue Imaizumi

16

1 reference

13 September 2017

Takeshi Rikiishi

17

1 reference

13 September 2017

Shigeru Tsuchiya

18

1 reference

13 September 2017

Shigeo Kure

19

1 reference

13 September 2017

Yoichi Matsubara

20

1 reference

13 September 2017

Raoul C. M. Hennekam

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20882035

23 July 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20882035

23 July 2024

publication date

30 September 2010

1 reference

full work available at URL

13 September 2017

https://www.nature.com/articles/jhg2010116.pdf

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20882035

http://www.nature.com/articles/jhg2010116.pdf

23 July 2024

file format

Portable Document Format

1 reference

https://api.crossref.org/works/10.1038/JHG.2010.116

http://www.nature.com/articles/jhg2010116

23 July 2024

1 reference

https://api.crossref.org/works/10.1038/JHG.2010.116

Journal of Human Genetics

23 July 2024

published in

1 reference

13 September 2017

volume

55

1 reference

13 September 2017

issue

12

1 reference

13 September 2017

page(s)

801-809

1 reference

Noonan syndrome: the changing phenotype

13 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.116

7 January 2021

https://api.crossref.org/works/10.1038%2FJHG.2010.116

1 reference

7 January 2021

Costello syndrome: an overview

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.116

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.116

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.116

7 January 2021

Stops along the RAS pathway in human genetic disease

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.116

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.116

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.116

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.116

7 January 2021

Germline KRAS mutations cause Noonan syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.116

7 January 2021

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.116

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.116

7 January 2021

Germline mutations in HRAS proto-oncogene cause Costello syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.116

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.116

7 January 2021

Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.116

7 January 2021

soc-2 encodes a leucine-rich repeat protein implicated in fibroblast growth factor receptor signaling

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.116

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.116

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.116

7 January 2021

Leukemia in Cardio-facio-cutaneous (CFC) syndrome: a patient with a germline mutation in BRAF proto-oncogene.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.116

7 January 2021

Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.116

7 January 2021

Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.116

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.116

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.116

7 January 2021

Mutational analysis of SHOC2, a novel gene for Noonan-like syndrome, in JMML.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.116

7 January 2021

Identifiers

DOI

10.1038/JHG.2010.116

1 reference

13 September 2017

1 reference