ArticleMolecular genetics and metabolism reports2014
Sequencing analysis of insulin receptor defects and detection of two novel mutations in
Article in Molecular genetics and metabolism reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
35 citing papers in PubMed, 66 citations in OpenAlex.
- Long-Term Effects of Metreleptin in Rabson-Mendenhall Syndrome on Glycemia, Growth, and Kidney Function.The Journal of clinical endocrinology and metabolism · 2022Trial
- Characterization of the chicken insulin receptor gene: Genomic organization and alternative promoter regulation.Poultry science · 2026Article
- Hereditary Severe Insulin-resistance Syndrome and Acanthosis Nigricans Caused by Novel Mutations in theJournal of clinical research in pediatric endocrinology · 2026Article
- Reprogramming insulin receptor activation with a de novo agonist to overcome severe insulin resistance.bioRxiv : the preprint server for biology · 2026Article
- Genomic and Transcriptomic Variations ofJournal of nutrition and metabolism · 2026Article
- Hyperinsulinemic hypoglycemia due to pathogenic INSR variants: metabolic signature, phenotypic overlap, and semidominant inheritance.Frontiers in endocrinology · 2026Article
- Donohue syndrome with a homozygous INSR exon 14 deletion: a case report.Oxford medical case reports · 2025Article
- Diazoxide-unresponsive Hyperinsulinemic Hypoglycaemia in a Preterm Infant with Heterozygous Insulin Receptor Gene MutationJournal of clinical research in pediatric endocrinology · 2025Article
- Catalytic activities of wild-type C. elegans DAF-2 kinase and dauer-associated mutants.The FEBS journal · 2024Article
- Metabolic and hormonal profiling in polycystic ovarian syndrome: insights into INSR gene variations.Molecular biology reports · 2024Article
- Case report: Glycaemic management and pregnancy outcomes in a woman with an insulin receptor mutation, p.Met1180Lys.Clinical diabetes and endocrinology · 2024Article
- Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p.Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother.Archives of endocrinology and metabolism · 2024Article
- Case Report: Functional characterization of a missense variant inFrontiers in pediatrics · 2024Article
- Long-range repression by ecdysone receptor on complex enhancers of the insulin receptor gene.Fly · 2023Article
- Long-range repression by ecdysone receptor on complex enhancers of the insulin receptor gene.bioRxiv : the preprint server for biology · 2023Article
- Activation of the insulin receptor by an insulin mimetic peptide.Nature communications · 2022Article
- The Insulin Receptor: An Important Target for the Development of Novel Medicines and Pesticides.International journal of molecular sciences · 2022Review
- Insulin signaling is an essential regulator of endometrial proliferation and implantation in mice.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2021Article
- Aging modulated by the Drosophila insulin receptor through distinct structure-defined mechanisms.Genetics · 2021Article
- A New Mutation of the INSR Gene in a 13-Year-Old Girl with Severe Insulin Resistance Syndrome in China.BioMed research international · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the insulin receptor gene cause the inherited insulin resistant syndromes Leprechaunism and Rabson-Mendenhall syndrome. These recessive conditions are characterized by intrauterine and post-natal growth restrictions, dysmorphic features, altered glucose homeostasis, and early demise. The insulin receptor gene (
methodsPCR amplification of the 22 coding exons of the
resultsWe sequenced four patients with Leprechaunism or Rabson-Mendenhall syndromes as well as seven samples from normal individuals and confirmed previously identified mutations in the affected patients. Three of the four mutations identified in this group caused premature insertion of a stop codon. In addition, the DISCUSSION: Leprechaunism and Rabson-Mendenhall syndrome are very rare and difficult to diagnose. Diagnosis is currently based mostly on clinical criteria. Clinical availability of DNA sequencing can provide an objective way of confirming or excluding the diagnosis.
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.