Molecular mechanisms of RET-induced Hirschsprung pathogenesis (Q28294778)

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

Europe PubMed Central

title

Molecular mechanisms of RET-induced Hirschsprung pathogenesis (English)

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1 reference

Isabella Ceccherini

3

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author name string

Francesca Lantieri

series ordinal

1

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Paola Griseri

series ordinal

2

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language of work or name

English

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publication date

2006

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published in

Annals of Medicine

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volume

38

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issue

1

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page(s)

11-9

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cites work

1 reference

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Hirschsprung's disease associated with a deletion of chromosome 10 (q11.2q21.2): a further link with the neurocristopathies?

21 January 2018

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

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Differential activities of the RET tyrosine kinase receptor isoforms during mammalian embryogenesis

21 January 2018

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Distinct turnover of alternatively spliced isoforms of the RET kinase receptor mediated by differential recruitment of the Cbl ubiquitin ligase

21 January 2018

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Molecular modeling of the extracellular domain of the RET receptor tyrosine kinase reveals multiple cadherin-like domains and a calcium-binding site

21 January 2018

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GDNF family neurotrophic factor signaling: four masters, one servant?

21 January 2018

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RET tyrosine kinase signaling in development and cancer

21 January 2018

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Phenotype-genotype correlation in Hirschsprung disease is illuminated by comparative analysis of the RET protein sequence

21 January 2018

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Loss of function effect of RET mutations causing Hirschsprung disease.

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890500442758

Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890500442758

Two distinct mutations of the RET receptor causing Hirschsprung's disease impair the binding of signalling effectors to a multifunctional docking site

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890500442758

Mechanism of activation of the ret proto-oncogene by multiple endocrine neoplasia 2A mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890500442758

Mutations in the extracellular domain cause RET loss of function by a dominant negative mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890500442758

Intrinsic susceptibility to misfolding of a hot-spot for Hirschsprung disease mutations in the ectodomain of RET.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890500442758

The RET proto-oncogene induces apoptosis: a novel mechanism for Hirschsprung disease

21 January 2018

1 reference

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The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis

21 January 2018

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The sensitivity of activated Cys Ret mutants to glial cell line-derived neurotrophic factor is mandatory to rescue neuroectodermic cells from apoptosis

21 January 2018

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Biological effects of the dual phenotypic Janus mutation of ret cosegregating with both multiple endocrine neoplasia type 2 and Hirschsprung's disease

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Listening to silence and understanding nonsense: exonic mutations that affect splicing

21 January 2018

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Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease

21 January 2018

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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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Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890500442758

RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890500442758

Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890500442758

Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR).

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890500442758

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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https://api.crossref.org/works/10.1080%2F07853890500442758

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

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https://api.crossref.org/works/10.1080%2F07853890500442758

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

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890500442758

Identifying candidate Hirschsprung disease-associated RET variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890500442758

A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890500442758

Comparative genomic sequence analysis coupled to chromatin immunoprecipitation: a screening procedure applied to search for regulatory elements at the RET locus

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890500442758

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890500442758

Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890500442758

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890500442758

A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890500442758

Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890500442758