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

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

Oncotarget - 31 Jan 2017

Liu Shiguo, Wang Xueqin, Zou Hui, Ge Yinlin, Wang Fang, Wang Yangang, Yan Shengli, Xia Hongfei, Xing Mingzhao

Abstract excerpt

OBJECTIVE: Based on mutations in PAX8 is associated with thyroid dysgenesis. We aim to identify and characterize PAX8 mutations in a large cohort of congenital hypothyroidism(CH) from thyroid dysgenesis in Chinese population. METHODS: We screened 453 unrelated Chinese patients with CH from thyroid dysgenesis for PAX8 mutations by sequencing the whole coding regions of PAX8 on genomic DNA isolated from blood. Cell...

Read the complete abstract on PubMed

Topics

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

Share to Autoantigens
Share to Congenital Hypothyroidism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to HeLa Cells

Share to Iodide Peroxidase

Share to Iron-Binding Proteins

Share to PAX8 Transcription Factor

Share to Predictive Value of Tests

Share to Thyroglobulin

Source

Open in PubMed Open full text

Identifiers

PMID: 28060725
DOI: 10.18632/oncotarget.14419
PMCID: PMC5352434

Genes

PAX8
TPO

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification and characterization of novel PAX8 mutations in Congenital Hypothyroidism(CH) in a Chinese population.PMID 28060725Read ↗

Screening of PAX8 mutations in Chinese patients with congenital hypothyroidism.Semantic proximity Read ↗

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

Characterization of a novel loss-of-function mutation of PAX8 associated 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 ↗

PAX8 pathogenic variants in Chinese patients with 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 ↗

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

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

Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid.Semantic proximity Read ↗

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

Autosomal Dominant Transmission of Congenital Thyroid Hypoplasia Due to Loss-of-Function Mutation of PAX8Semantic proximity Read ↗

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