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

Iodide organification defects resulting from cosegregation of mutated and null thyroid peroxidase alleles.

Molecular and cellular endocrinology - 20 Aug 2001

Kotani T, Umeki K, Yamamoto I, Ohtaki S, Adachi M, Tachibana K

Abstract excerpt

This report describes an intriguing combination of the thyroid peroxidase (TPO) alleles resulting in an iodide organification defect. Sequence analysis of the patient's TPO gene showed the presence of T-deletion in exon 14 of the TPO gene (T2512del). From the sequencing pattern, this new mutation of the TPO gene was thought to be homozygous. mRNA transfection studies in which mutated mRNA was transfected to...

Read the complete abstract on PubMed

Topics

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

Share to CHO Cells
Share to Cricetinae
Share to Family Health

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

Share to In Situ Hybridization, Fluorescence

Share to Iodide Peroxidase

Share to Iodine

Share to Mutagenesis

Share to Protein Transport

Source

Identifiers

PMID: 11500239
DOI: 10.1016/s0303-7207(01)00547-0

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

Iodide organification defects resulting from cosegregation of mutated and null thyroid peroxidase alleles.PMID 11500239Read ↗

Partial iodide organification defect caused by a novel mutation of the thyroid peroxidase gene in three siblings.Semantic proximity Read ↗

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

Monoallelic expression of mutant thyroid peroxidase allele causing total iodide organification defect.Semantic proximity Read ↗

Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect.Semantic proximity Read ↗

A 20-basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism.Semantic proximity Read ↗

Total iodide organification defect: clinical and molecular characterization of an Italian family.Semantic proximity Read ↗

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

Genetics and phenomics of hypothyroidism and goiter due to TPO mutations.Semantic proximity Read ↗

Mutation analysis of thyroid peroxidase gene in Chinese patients with total iodide organification defect: identification of five novel mutationsSemantic 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 ↗

Two compound heterozygous mutations (c.215delA/c.2422T-->C and c.387delC/c.1159G-->A) in the thyroid peroxidase gene responsible for congenital goitre and iodide organification defect.Semantic proximity Read ↗

Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update).Semantic proximity Read ↗

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