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

Mutational and bioinformatics analysis of the NKX2.1 gene in a cohort of Iranian pediatric patients with congenital hypothyroidism (CH).

Physiology international - 16 Jun 2022

Heidari Mohammad Mehdi, Madani Manshadi Seyed Ali, Eshghi Ahmad Reza, Talebi Fatemeh, Khatami Mehri, Bragança José, Ordooei Mahtab, Chamani Reyhane, Ghasemi Farzaneh

Abstract excerpt

Congenital hypothyroidism (CH) occurs with a relatively alarming prevalence in infants, and if not diagnosed and treated in time, it can have devastating consequences for the development of the nervous system. CH is associated with genetic changes in several genes that encode transcription factors responsible for thyroid development, including mutations in the NK2 homeobox 1 (NKX2.1) gene, which encodes the...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Computational Biology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Congenital Hypothyroidism

Share to Infant

Share to Mutation

Share to Thyroid Nuclear Factor 1

Share to Transcription Factors

Source

Identifiers

PMID: 35895569
DOI: 10.1556/2060.2022.00224

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

Mutational and bioinformatics analysis of the NKX2.1 gene in a cohort of Iranian pediatric patients with congenital hypothyroidism (CH).PMID 35895569Read ↗

Mutation analysis of the NKX2.5 gene in Iranian pediatric patients with congenital hypothyroidism.Semantic proximity Read ↗

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

Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort.Semantic proximity Read ↗

Molecular and clinical characteristics of congenital hypothyroidism in a large cohort study based on comprehensive thyroid transcription factor mutation screening in Henan.Semantic proximity Read ↗

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

Next-generation sequencing analysis of twelve known causative genes in congenital hypothyroidism.Semantic proximity Read ↗

Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidismSemantic proximity Read ↗

Novel NKX2.1 mutation associated with hypothyroidism and lethal respiratory failure in a full-term neonate.Semantic proximity Read ↗

Respiratory insufficiency in a newborn with congenital hypothyroidism due to a new mutation of TTF-1/NKX2.1 gene.Semantic proximity Read ↗

Genetic Etiology in Patients Diagnosed With Congenital Hypothroidism With New Generation Sequencing: a Single Center ExperienceSemantic proximity Read ↗

Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency.Semantic proximity Read ↗

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

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