ArticleJournal of medical genetics2018
Mutations in IRS4 are associated with central hypothyroidism.
Article in Journal of medical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology.Thyroid : official journal of the American Thyroid Association · 2021Guideline
- Structural variant detection across sequencing technologies.Nature biotechnology · 2026Article
- Approach to the patient: genetics and management of congenital hypothyroidism.The Journal of clinical endocrinology and metabolism · 2026Article
- IRS4 is a PI3K-activating cancer dependency up-regulated through DNA rearrangements or epigenetic mechanisms in multiple solid tumors.Science advances · 2026Article
- Determination of protein markers of inflammasome formation and ferroptosis in thyroid cancer based on gender.Journal of Cancer · 2026Article
- Newborn screening for central congenital hypothyroidism: past, present and future.European thyroid journal · 2025Review
- Linking serum leptin and TSH among metabolic syndrome patients with and without hypothyroidism.Bioinformation · 2025Article
- Disturbed function of TBL1X has a differential effect on T3-regulated gene expression in two human liver cell models.European thyroid journal · 2024Article
- Diagnosing and treating anterior pituitary hormone deficiency in pediatric patients.Reviews in endocrine & metabolic disorders · 2024Review
- The hypothalamic-pituitary-thyroid axis is intact in male insulin receptor substrate 4 knockout mice.European thyroid journal · 2024Article
- Hepatomegaly and fatty liver disease secondary to central hypothyroidism in combination with macrosomia as initial presentation of IGSF1 deficiency syndrome.Hormones (Athens, Greece) · 2023Review
- Neonatal screening for primary and central congenital hypothyroidism: is it time to go Dutch?European thyroid journal · 2023Review
- Analysis of genetic variability in Turner syndrome linked to long-term clinical features.Frontiers in endocrinology · 2023Article
- Hypothyroidism: The difficulty in attributing symptoms to their underlying cause.Frontiers in endocrinology · 2023Review
- Genetics of congenital hypothyroidism: Modern concepts.Pediatric investigation · 2022Review
- Article
- Low free thyroxine and normal thyroid-stimulating hormone in infants and children: possible causes and diagnostic work-up.European journal of pediatrics · 2021Review
- Cognitive and Motor Outcome in Patients with Early-Detected Central Congenital Hypothyroidism Compared with Siblings.The Journal of clinical endocrinology and metabolism · 2021Article
- New genetics in congenital hypothyroidism.Endocrine · 2021Review
- Diagnosis and Management of Central Congenital Hypothyroidism.Frontiers in endocrinology · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFour 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.
methodsWe performed exome sequencing in two families with unexplained isolated CeH and subsequently Sanger sequenced unrelated idiopathic CeH cases. We performed clinical and biochemical characterisation of the probands and carriers identified by family screening. We investigated
resultsWe found mutations in the insulin receptor substrate 4 (
conclusionsMutations in
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.