Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Cys611Ser mutation in RET proto-oncogene in a kindred with medullary thyroid carcinoma and Hirschsprung's disease.

European journal of human genetics : EJHG - 1 May 2003

Nishikawa Mikiko, Murakumo Yoshiki, Imai Tsuneo, Kawai Kumi, Nagaya Masahiro, Funahashi Hiroomi, Nakao Akimasa, Takahashi Masahide

Abstract excerpt

Germline mutations in the RET proto-oncogene are responsible for the development of human hereditary diseases, including multiple endocrine neoplasia (MEN) type 2A and 2B, familial medullary thyroid carcinoma (FMTC), and Hirschsprung's disease (HSCR). It has been reported that some families developed both MEN 2A/FMTC and HSCR, in which a mutation in a cysteine residue at codon 609, 618, or 620 in the RET gene was...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Substitution
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Hirschsprung Disease

Share to Proto-Oncogene Mas

Share to Proto-Oncogene Proteins

Share to Proto-Oncogene Proteins c-ret

Share to Receptor Protein-Tyrosine Kinases

Share to Thyroid Neoplasms

Source

Identifiers

PMID: 12734540
DOI: 10.1038/sj.ejhg.5200971

Genes

RET

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cys611Ser mutation in RET proto-oncogene in a kindred with medullary thyroid carcinoma and Hirschsprung's disease.PMID 12734540Read ↗

A Korean family of familial medullary thyroid cancer with Cys618Ser RET germline mutation.Semantic proximity Read ↗

C618R mutation in exon 10 of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung's disease.Semantic proximity Read ↗

A single missense mutation in codon 918 of the RET proto-oncogene in sporadic medullary thyroid carcinomas.Semantic proximity Read ↗

Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogeneSemantic proximity Read ↗

Biological properties of Ret with cysteine mutations correlate with multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma, and Hirschsprung's disease phenotype.Semantic proximity Read ↗

Mutations in the cysteine-rich region of the RET proto-oncogene in patients diagnosed as having sporadic medullary thyroid carcinoma.Semantic proximity Read ↗

Chinese siblings with hereditary medullary thyroid carcinoma caused by RET mutation: implications for RET oncogene detection.Semantic proximity Read ↗

Case report: a p.C618S RET proto-oncogene germline mutation in a large Chinese pedigree with familial medullary thyroid carcinoma.Semantic proximity Read ↗

[Molecular biology, basic research and diagnosis of Hirschsprung's disease].Semantic proximity Read ↗

Novel mutations of RET gene in Korean patients with sporadic Hirschsprung's disease.Semantic proximity Read ↗

Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and hirschsprung disease.Semantic proximity Read ↗

Mechanisms of development of multiple endocrine neoplasia type 2 and Hirschsprung's disease by ret mutations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.