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

Mutations in IRS4 are associated with central hypothyroidism.

Journal of medical genetics - 1 Oct 2018

Heinen Charlotte A, de Vries Emmely M, Alders Mariëlle, Bikker Hennie, Zwaveling-Soonawala Nitash, van den Akker Erica L T, Bakker Boudewijn, Hoorweg-Nijman Gera, Roelfsema Ferdinand, Hennekam Raoul C, Boelen Anita, van Trotsenburg A S Paul, Fliers Eric

Abstract excerpt

BACKGROUND: Four genetic causes of isolated congenital central hypothyroidism (CeH) have been identified, but many cases remain unexplained. We hypothesised the existence of other genetic causes of CeH with a Mendelian inheritance pattern. METHODS: We performed exome sequencing in two families with unexplained isolated CeH and subsequently Sanger sequenced unrelated idiopathic CeH cases. We performed clinical and...

Read the complete abstract on PubMed

Topics

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

Share to Heterozygote
Share to Hypothalamus

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hypothyroidism

Share to Infant

Share to Insulin Receptor Substrate Proteins

Share to Leptin

Share to Pituitary Gland

Share to Thyroxine

Source

Open in PubMed Open full text

Identifiers

PMID: 30061370
DOI: 10.1136/jmedgenet-2017-105113
PMCID: PMC6161650

Genes

IRS4

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

Mutations in IRS4 are associated with central hypothyroidism.PMID 30061370Read ↗

Screening for Mutations in Isolated Central Hypothyroidism Reveals a Novel Mutation in Insulin Receptor Substrate 4.Semantic proximity Read ↗

Congenital isolated central hypothyroidism: Novel mutations and their functional implications.Semantic proximity Read ↗

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.Semantic proximity Read ↗

Mutations in TBL1X Are Associated With Central Hypothyroidism.Semantic proximity Read ↗

A novel mechanism for isolated central hypothyroidism: inactivating mutations in the thyrotropin-releasing hormone receptor gene.Semantic proximity Read ↗

A Novel Mechanism for Isolated Central Hypothyroidism: Inactivating Mutations in the Thyrotropin-Releasing Hormone Receptor GeneSemantic proximity Read ↗

Clinical and molecular analyses of isolated central congenital hypothyroidism based on a survey conducted in Japan.Semantic proximity Read ↗

A novel IGSF1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF1 deficiency syndrome.Semantic proximity Read ↗

Congenital Hypothyroidism Patients With Thyroid Hormone Receptor Variants Are Not Rare: A Systematic Review.Semantic proximity Read ↗

Three novel IGSF1 mutations in four Japanese patients with X-linked congenital central hypothyroidism.Semantic proximity Read ↗

Familial Central Hypothyroidism Caused by a Novel IGSF1 Gene Mutation.Semantic proximity Read ↗

Identification of Transient Receptor Potential Channel 4-Associated Protein as a Novel Candidate Gene Causing Congenital Primary Hypothyroidism.Semantic proximity Read ↗

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