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

Mutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesis.

The Journal of clinical endocrinology and metabolism - 1 Jun 2011

Hermanns Pia, Grasberger Helmut, Refetoff Samuel, Pohlenz Joachim

Abstract excerpt

CONTEXT: Screening of the known candidate genes involved in thyroid organogenesis has revealed mutations in a small subset of patients with congenital hypothyroidism due to thyroid dysgenesis (TD). OBJECTIVE: We studied a girl with TD who had mutations in two transcription factors involved in thyroid development. RESULTS: Sequencing analysis of candidate genes involved in thyroid gland development revealed a new...

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 Homeobox Protein Nkx-2.5

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homeodomain Proteins

Share to Paired Box Transcription Factors

Share to PAX8 Transcription Factor

Share to Promoter Regions, Genetic

Share to Thyroid Dysgenesis

Share to Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 21450989
DOI: 10.1210/jc.2010-2341
PMCID: PMC3100746

Genes

PAX8
DIO2
TPO

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesis.PMID 21450989Read ↗

Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis.Semantic proximity Read ↗

Novel Missense Variants in PAX8 and NKX2-1 Cause Congenital Hypothyroidism.Semantic proximity Read ↗

Novel Mutations in the NKX2.1 gene and the PAX8 gene in a Boy with Brain-Lung-Thyroid Syndrome.Semantic proximity Read ↗

Characterization of a novel loss-of-function mutation of PAX8 associated with congenital hypothyroidism.Semantic proximity Read ↗

Genetic analysis of the <i>PAX8</i> gene in children with congenital hypothyroidism and dysgenetic or eutopic thyroid glands: identification of a novel sequence variantSemantic proximity Read ↗

Absence of mutations in PAX8, NKX2.5, and TSH receptor genes in patients with thyroid dysgenesis.Semantic proximity Read ↗

Molecular Genetics of Thyroid Dysgenesis: Established and Emerging ContributorsSemantic proximity Read ↗

Congenital Hypothyroidism Due to Truncating PAX8 Mutations: A Case Series and Molecular Function Studies.Semantic proximity Read ↗

Genetics and phenomics of hypothyroidism and thyroid dys- and agenesis due to PAX8 and TTF1 mutations.Semantic proximity Read ↗

Phenotypic Variability of Patients With PAX8 Variants Presenting With Congenital Hypothyroidism and Eutopic Thyroid.Semantic proximity Read ↗

Two Cases of Thyroid Dysgenesis Caused by Different Novel <i>PAX8</i> Mutations in the DNA-Binding Region: <i>In Vitro</i> Studies Reveal Different Pathogenic MechanismsSemantic proximity Read ↗

A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea.Semantic proximity Read ↗

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