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

Genetic Alterations in Pendrin (SLC26A4) Gene in Adult Hypothyroid Patients.

Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme - 1 Sept 2017

Mukherjee Sourav, Guha Manalee, Adhikary Bidisha, Bankura Biswabandhu, Mitra Pubali, Chowdhury Subhankar, Das Madhusudan

Abstract excerpt

Current study was aimed to screen the SLC26A4 gene in 127 nonautoimmune and noncongenital hypothyroid patients, who were under optimal iodine nutrition and devoid of any characteristics of Pendred syndrome from eastern part of Indian population. 8 single nucleotide variants/mutations were identified in heterozygous state in 20% patient population, which include 1 novel nonsynonymous (p.C18S), 1 novel intronic...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Predisposition to Disease
Share to Hypothyroidism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Membrane Transport Proteins

Share to Phenotype

Share to Polymorphism, Single Nucleotide

Share to Sulfate Transporters

Source

Identifiers

PMID: 28718179
DOI: 10.1055/s-0043-110769

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

Genetic Alterations in Pendrin (SLC26A4) Gene in Adult Hypothyroid Patients.PMID 28718179Read ↗

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

[Pendred syndrome among patients with hypothyroidism: genetic diagnosis, phenotypic variability and occurrence of phenocopies].Semantic proximity Read ↗

SLC26A4 mutation in Pendred syndrome with hypokalemia: A case report.Semantic proximity Read ↗

Clinical and molecular characteristics of Pendred syndrome.Semantic proximity Read ↗

Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism.Semantic proximity Read ↗

Screening of SLC26A4 gene in autoimmune thyroid diseases.Semantic proximity Read ↗

Prevalence of pendrin defects in sudanese families with congenital hypothyroidism.Semantic proximity Read ↗

Identification of PENDRIN (SLC26A4) mutations in patients with congenital hypothyroidism and "apparent" thyroid dysgenesis.Semantic proximity Read ↗

Genetics and phenomics of Pendred syndrome.Semantic proximity Read ↗

Pendred syndrome.Semantic proximity Read ↗

Computational analysis of functional single nucleotide polymorphisms associated with SLC26A4 gene.Semantic proximity Read ↗

Identification of allelic variants of pendrin (SLC26A4) with loss and gain of function.Semantic proximity Read ↗

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