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

Screening of PAX8 mutations in Chinese patients with congenital hypothyroidism.

Journal of endocrinological investigation - 1 Nov 2012

Liu S G, Zhang S S, Zhang L Q, Li W J, Zhang A Q, Lu K N, Wang M J, Yan S L, Ma X

Abstract excerpt

BACKGROUND: Congenital hypothyroidism (CH) is a neonatal endocrine disease with an incidence of 1:2000 to 1:4000 worldwide. In about 85% of patients CH is secondary to thyroid dysgenesis, but its pathogenesis remains unclear. Thyroid transcription factors, such as paired box transcription factor 8 (PAX8), play an important role in thyroid organogenesis and development. AIM: To screen PAX8 mutations in Chinese CH...

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to Blotting, Western
Share to Congenital Hypothyroidism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Early Detection of Cancer

Share to Paired Box Transcription Factors

Share to PAX8 Transcription Factor

Share to Sequence Homology, Amino Acid

Source

Identifiers

PMID: 22293317
DOI: 10.3275/8239

Genes

PAX8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Screening of PAX8 mutations in Chinese patients with congenital hypothyroidism.PMID 22293317Read ↗

Genetic testing of PAX8 mutations associated with thyroid dysgenesis in Chinese congenital hypothyroidism patients.Semantic proximity Read ↗

Identification and characterization of novel PAX8 mutations in Congenital Hypothyroidism(CH) in a Chinese population.Semantic proximity Read ↗

PAX8 pathogenic variants in Chinese patients with congenital hypothyroidism.Semantic proximity Read ↗

Genetic analysis of the paired box transcription factor (PAX8) gene in a cohort of Polish patients with primary congenital hypothyroidism and dysgenetic thyroid glands.Semantic proximity Read ↗

Mutations in the gene encoding paired box domain (PAX8) are not a frequent cause of congenital hypothyroidism (CH) in Iranian patients with thyroid dysgenesis.Semantic proximity Read ↗

A Novel Pathogenic Variant in PAX8 Leads to Familial Congenital Hypothyroidism.Semantic proximity Read ↗

Genetic Variability of the Paired Box Transcription Factor; PAX8 Gene: Guidance Towards Treatment Strategies in a Cohort of Congenital Hypothyroidism.Semantic proximity Read ↗

Identification and characterization of four PAX8 rare sequence variants (p.T225M, p.L233L, p.G336S and p.A439A) in patients with congenital hypothyroidism and dysgenetic thyroid glands.Semantic proximity Read ↗

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

Targeted next-generation sequencing of thirteen causative genes in Chinese patients with congenital hypothyroidism.Semantic proximity Read ↗

Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients.Semantic proximity Read ↗

PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis.Semantic proximity Read ↗

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