(Q42828135)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7647787%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

title

Loss of function effect of RET mutations causing Hirschsprung disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7647787%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7647787%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

Italia Bongarzone

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7647787%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

Renata Bocciardi

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7647787%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

author name string

B Pasini

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7647787%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

M G Borrello

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7647787%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

Y Luo

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7647787%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

P Mondellini

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7647787%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

L Alberti

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7647787%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

C Miranda

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7647787%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

E Arighi

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7647787%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

language of work or name

English

0 references

publication date

1 May 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7647787%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7647787%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

volume

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7647787%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7647787%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

page(s)

35-40

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7647787%20AND%20SRC:MED&resulttype=core&format=json

Activation of a novel human transforming gene, ret, by DNA rearrangement

22 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNG0595-35

Exon structure and flanking intronic sequences of the human RET proto-oncogene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0595-35

Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0595-35

Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0595-35

Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0595-35

Mutations of the RET proto-oncogene in Hirschsprung's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0595-35

A new oncogene in human thyroid papillary carcinomas and their lymph-nodal metastases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0595-35

Molecular characterization of a thyroid tumor-specific transforming sequence formed by the fusion of ret tyrosine kinase and the regulatory subunit RI alpha of cyclic AMP-dependent protein kinase A

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0595-35

Catalytic specificity of protein-tyrosine kinases is critical for selective signalling

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0595-35

Signalling by receptor tyrosine kinases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0595-35

Crystal structure of the tyrosine kinase domain of the human insulin receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0595-35

Oncogenic activation of tyrosine kinases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0595-35

Transfer of purified herpes virus thymidine kinase gene to cultured mouse cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0595-35

A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0595-35

21 January 2018

One gene—four syndromes

1 reference

https://api.crossref.org/works/10.1038%2FNG0595-35

Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0595-35

7 January 2021

Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC

1 reference

https://api.crossref.org/works/10.1038%2FNG0595-35

7 January 2021

Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B

1 reference

https://api.crossref.org/works/10.1038%2FNG0595-35

7 January 2021

Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours

1 reference

https://api.crossref.org/works/10.1038%2FNG0595-35

7 January 2021

Heterogeneity and low detection rate of RET mutations in Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1038%2FNG0595-35

7 January 2021

The protein kinase family: conserved features and deduced phylogeny of the catalytic domains

1 reference

https://api.crossref.org/works/10.1038%2FNG0595-35

7 January 2021

PTC is a novel rearranged form of the ret proto-oncogene and is frequently detected in vivo in human thyroid papillary carcinomas

1 reference

https://api.crossref.org/works/10.1038%2FNG0595-35

7 January 2021

Characterization of an inversion on the long arm of chromosome 10 juxtaposing D10S170 and RET and creating the oncogenic sequence RET/PTC.

1 reference

https://api.crossref.org/works/10.1038%2FNG0595-35

7 January 2021

A t(10;17) translocation creates the RET/PTC2 chimeric transforming sequence in papillary thyroid carcinoma

1 reference

https://api.crossref.org/works/10.1038%2FNG0595-35

7 January 2021

The two genes generating RET/PTC3 are localized in chromosomal band 10q11.2.

1 reference

https://api.crossref.org/works/10.1038%2FNG0595-35

7 January 2021

Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B

1 reference

https://api.crossref.org/works/10.1038%2FNG0595-35

7 January 2021

Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene

1 reference

https://api.crossref.org/works/10.1038%2FNG0595-35

7 January 2021

Identifiers

DOI

10.1038/NG0595-35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7647787%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

22 October 2019

1011229645

0 references

1 reference