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 Due to Truncating PAX8 Mutations: A Case Series and Molecular Function Studies.

The Journal of clinical endocrinology and metabolism - 1 Nov 2020

Iwahashi-Odano Megumi, Nagasaki Keisuke, Fukami Maki, Nishioka Junko, Yatsuga Shuichi, Asakura Yumi, Adachi Masanori, Muroya Koji, Hasegawa Tomonobu, Narumi Satoshi

Abstract excerpt

CONTEXT: PAX8 is a transcription factor required for thyroid development, and its mutation causes congenital hypothyroidism (CH). More than 20 experimentally verified loss-of-function PAX8 mutations have been described, and all but one were located in the DNA-binding paired domain. OBJECTIVE: We report the identification and functional characterization of 3 novel truncating PAX8 mutations located outside the...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Congenital Hypothyroidism

Share to Infant, Newborn

Share to PAX8 Transcription Factor

Share to Phenotype

Share to Promoter Regions, Genetic

Share to Young Adult

Source

Identifiers

PMID: 32841355
DOI: 10.1210/clinem/dgaa584

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

Congenital Hypothyroidism Due to Truncating PAX8 Mutations: A Case Series and Molecular Function Studies.PMID 32841355Read ↗

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

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

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

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

Functional characterization of four novel PAX8 mutations causing congenital hypothyroidism: new evidence for haploinsufficiency as a disease mechanism.Semantic proximity Read ↗

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

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 ↗

Familial PAX8 small deletion (c.989_992delACCC) associated with extreme phenotype variability.Semantic proximity Read ↗

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

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

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