(Q46232266)

20 December 2017

title

TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease (English)

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20 December 2017

author

Jo Knight

9

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20 December 2017

Vincent C.H. Lui

3

object named as

Vincent C H Lui

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20 December 2017

author name string

Mercè Garcia-Barcelo

1

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20 December 2017

Raymond W Ganster

2

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20 December 2017

Thomas Y Y Leon

4

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20 December 2017

Man-Ting So

5

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20 December 2017

Anson M F Lau

6

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20 December 2017

Ming Fu

7

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20 December 2017

Mai-Har Sham

8

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20 December 2017

Maria Stella Zannini

10

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20 December 2017

Pak C Sham

11

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20 December 2017

Paul K H Tam

12

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20 December 2017

publication date

17 November 2004

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20 December 2017

published in

Human Molecular Genetics

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20 December 2017

volume

14

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20 December 2017

issue

2

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20 December 2017

page(s)

191-204

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20 December 2017

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

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI015

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

21 January 2018

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Hirschsprung disease is linked to defects in neural crest stem cell function

21 January 2018

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A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease

21 January 2018

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A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction

21 January 2018

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Phenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI015

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

21 January 2018

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Chinese patients with sporadic Hirschsprung's disease are predominantly represented by a single RET haplotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI015

A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI015

Single nucleotide polymorphic alleles in the 5' region of the RET proto-oncogene define a risk haplotype in Hirschsprung's disease.

21 January 2018

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Transcriptional repression of the RET proto-oncogene by a mitogen activated protein kinase-dependent signalling pathway

21 January 2018

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HOXB5 expression is spatially and temporarily regulated in human embryonic gut during neural crest cell colonization and differentiation of enteric neuroblasts.

21 January 2018

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Embryonic development of the ganglion plexuses and the concentric layer structure of human gut: a topographical study.

21 January 2018

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Pax3 is required for enteric ganglia formation and functions with Sox10 to modulate expression of c-ret

21 January 2018

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Sp1 and Sp3 transactivate the RET proto-oncogene promoter

21 January 2018

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Rescue of human RET gene expression by sodium butyrate: a novel powerful tool for molecular studies in Hirschsprung disease

21 January 2018

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The paired domain-containing factor Pax8 and the homeodomain-containing factor TTF-1 directly interact and synergistically activate transcription

21 January 2018

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Highly recurrent RET mutations and novel mutations in genes of the receptor tyrosine kinase and endothelin receptor B pathways in Chinese patients with sporadic Hirschsprung disease

21 January 2018

1 reference

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Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI015

Complex regulation of human inducible nitric oxide synthase gene transcription by Stat 1 and NF-kappa B.

21 January 2018

1 reference

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CDX-1 and CDX-2 are expressed in human colonic mucosa and are down-regulated in patients with Hirschsprung's disease associated enterocolitis.

21 January 2018

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2LD, GENECOUNTING and HAP: Computer programs for linkage disequilibrium analysis

21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/HMG/DDI015

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20 December 2017

PubMed ID

15548547

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20 December 2017