Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease (Q34336251)

1 August 2017

title

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

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1 August 2017

Romeo G

1

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Ronchetto P

2

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Luo Y

3

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Barone V

4

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Seri M

5

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Ceccherini I

6

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Pasini B

7

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Bocciardi R

8

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Lerone M

9

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Kääriäinen H

10

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publication date

1 January 1994

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1 August 2017

language of work or name

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volume

367

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issue

6461

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1 August 2017

page(s)

377-378

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A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10.

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cites work

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7 January 2021

A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10.

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7 January 2021

Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10

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7 January 2021

Deleted and normal chromosome 10 homologs from a patient with Hirschsprung disease isolated in two cell hybrids through enrichment by immunomagnetic selection

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7 January 2021

Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Dimerization mediated through a leucine zipper activates the oncogenic potential of the met receptor tyrosine kinase

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7 January 2021

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

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7 January 2021

W mutant mice with mild or severe developmental defects contain distinct point mutations in the kinase domain of the c-kit receptor

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7 January 2021

Deletion of the c-kit protooncogene in the human developmental defect piebald trait

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7 January 2021

Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism

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7 January 2021

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

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7 January 2021

DNA sequencing with chain-terminating inhibitors

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7 January 2021

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

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7 January 2021

Identifiers

DOI

10.1038/367377A0

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Dimensions Publication ID

1 August 2017

1038079474

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