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

Congenital hypothyroidism caused by a unique thyroid peroxidase allele containing two mutations, C1708T and C2737T.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Feb 2004

Umeki Kazumi, Yamamoto Ikuo, Yukizane Shigenori, Kotani Tomio

Abstract excerpt

Thyroid peroxidase (TPO) is a key enzyme of thyroid hormone biosynthesis. TPO abnormality is considered to be a major cause of congenital hypothyroidism (CH) with total iodide organification defect. In the present study, we examined the TPO gene of three siblings, 3 and 2 year-old brothers and a newborn sister, with severe CH. All 17 exons and the promoter region in the TPO gene were directly sequenced using...

Read the complete abstract on PubMed

Topics

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

Share to Congenital Hypothyroidism
Share to Hypothyroidism

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

Share to In Situ Hybridization, Fluorescence

Share to Infant, Newborn

Share to Iodide Peroxidase

Share to Leukocytes

Share to Microsatellite Repeats

Share to Reverse Transcriptase Polymerase Chain Reaction

Source

Identifiers

PMID: 15055360
DOI: 10.1515/jpem.2004.17.2.231

Genes

TPO

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

Congenital hypothyroidism caused by a unique thyroid peroxidase allele containing two mutations, C1708T and C2737T.PMID 15055360Read ↗

The TPO mutation screening and genotype-phenotype analysis in 230 Chinese patients with congenital hypothyroidism.Semantic proximity Read ↗

Congenital goitrous hypothyroidism: mutation analysis in the thyroid peroxidase gene.Semantic proximity Read ↗

Genetic Screening and Functional Analysis of Thyroid Peroxidase Variants in Chinese Patients with Congenital Hypothyroidism.Semantic proximity Read ↗

Screening and Functional Analysis of TPO Gene Mutations in a Cohort of Chinese Patients With Congenital Hypothyroidism.Semantic proximity Read ↗

Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidismSemantic proximity Read ↗

[Mutation of thyroid peroxidase gene in 35 patients with congenital hypothyroidism].Semantic proximity Read ↗

Functional analysis of thyroid peroxidase gene mutations resulting in congenital hypothyroidism.Semantic proximity Read ↗

Mutation screening of the TPO gene in a cohort of 192 Chinese patients with congenital hypothyroidism.Semantic proximity Read ↗

Thyroid Peroxidase Gene Mutations Associated with Thyroid Disorders.Semantic proximity Read ↗

Analysis of TPO gene in Turkish children with iodide organification defect: identification of a novel mutation.Semantic proximity Read ↗

Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter.Semantic proximity Read ↗

Monoallelic thyroid peroxidase gene mutation in a patient with congenital hypothyroidism with total iodide organification defect.Semantic proximity Read ↗

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