ReviewInternational journal of molecular sciences2018
Growth Hormone Receptor Mutations Related to Individual Dwarfism.
Review in International journal of molecular sciences, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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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.
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Who cites it
33 citing papers in PubMed, 52 citations in OpenAlex.
- A review of genetic variation underlying chicken phenotypic diversity.Poultry science · 2025Review
- Idiopathic Short Stature in the Genomic Era: Integrating Auxology, Endocrinology, and Emerging Genetic Insights.Children (Basel, Switzerland) · 2025Review
- The role of growth hormone in assisted reproductive technology for patients with diminished ovarian reserve: from signaling pathways to clinical applications.Frontiers in endocrinology · 2025Review
- Article
- Involvement of Sirtuin 1 in the Growth Hormone/Insulin-like Growth Factor 1 Signal Transduction and Its Impact on Growth Processes in Children.International journal of molecular sciences · 2023Review
- A Recurrent Mutation in Growth Hormone Receptor (The Yale journal of biology and medicine · 2023Article
- Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report.BMC endocrine disorders · 2023Article
- A zebrafish model of growth hormone insensitivity syndrome with immune dysregulation 1 (GHISID1).Cellular and molecular life sciences : CMLS · 2023Article
- Characteristic amino acid residues in the growth hormone receptor gene onmicroPublication biology · 2023Article
- Short stature related to Growth Hormone Insensitivity (GHI) in childhood.Frontiers in endocrinology · 2023Review
- Effects of Growth-Related Genes on Body Measurement Traits in Wenshang Barred Chickens.The journal of poultry science · 2022Article
- Imaging Intron Evolution.Methods and protocols · 2022Article
- Mutations inGenes · 2022Review
- Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.The Journal of clinical endocrinology and metabolism · 2021Article
- Contribution of Ghrelin to the Pathogenesis of Growth Hormone Deficiency.International journal of molecular sciences · 2021Review
- Circular PPP1R13B RNA Promotes Chicken Skeletal Muscle Satellite Cell Proliferation and Differentiation via Targeting miR-9-5p.Animals : an open access journal from MDPI · 2021Article
- CircAgtpbp1 Acts as a Molecular Sponge of miR-543-5p to Regulate the Secretion of GH in Rat Pituitary Cells.Animals : an open access journal from MDPI · 2021Article
- Digital Health for Supporting Precision Medicine in Pediatric Endocrine Disorders: Opportunities for Improved Patient Care.Frontiers in pediatrics · 2021Review
- Influence and Effect of Acupoint Application of Chinese Medicine on Height and Bone Age of Children with Short Stature.Evidence-based complementary and alternative medicine : eCAM · 2021Article
- Systemic Deficiency of GHR in Pigs leads to Hepatic Steatosis via Negative Regulation of AHR Signaling.International journal of biological sciences · 2021Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Growth hormone (GH) promotes body growth by binding with two GH receptors (GHRs) at the cell surface. GHRs interact with Janus kinase, signal transducers, and transcription activators to stimulate metabolic effects and insulin-like growth factor (IGF) synthesis. However, process dysfunctions in the GH⁻GHR⁻IGF-1 axis cause animal dwarfism. If, during the GH process, GHR is not successfully recognized and/or bound, or GHR fails to transmit the GH signal to IGF-1, the GH dysfunction occurs. The goal of this review was to focus on the GHR mutations that lead to failures in the GH⁻GHR⁻IGF-1 signal transaction process in the dwarf phenotype. Until now, more than 90 GHR mutations relevant to human short stature (Laron syndrome and idiopathic short stature), including deletions, missense, nonsense, frameshift, and splice site mutations, and four GHR defects associated with chicken dwarfism, have been described. Among the 93 identified mutations of human GHR, 68 occur extracellularly, 13 occur in GHR introns, 10 occur intracellularly, and two occur in the transmembrane. These mutations interfere with the interaction between GH and GHRs, GHR dimerization, downstream signaling, and the expression of GHR. These mutations cause aberrant functioning in the GH-GHR-IGF-1 axis, resulting in defects in the number and diameter of muscle fibers as well as bone development.
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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.