ArticleJournal of the Endocrine Society2017
Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency.
Article in Journal of the Endocrine Society, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
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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.
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
21 citing papers in PubMed, 36 citations in OpenAlex.
- A Clinical Trial of High-Dose Growth Hormone in a Patient With a Dominant-Negative Growth Hormone Receptor Mutation.The Journal of clinical endocrinology and metabolism · 2024Trial
- Association between Insulin-Like Growth Factor-1 and Uric Acid in Chinese Children and Adolescents with Idiopathic Short Stature: A Cross-Sectional Study.BioMed research international · 2018Trial
- QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction.Nature communications · 2024Article
- Monogenic causes of familial short stature.Frontiers in endocrinology · 2024Review
- Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report.BMC endocrine disorders · 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
- Balanced assessment of growth disorders using clinical, endocrinological, and genetic approaches.Annals of pediatric endocrinology & metabolism · 2021Article
- Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.The Journal of clinical endocrinology and metabolism · 2021Article
- Review
- Growth failure: 'idiopathic' only after a detailed diagnostic evaluation.Endocrine connections · 2021Review
- The continuum between GH deficiency and GH insensitivity in children.Reviews in endocrine & metabolic disorders · 2021Review
- Genetic causes of growth hormone insensitivity beyond GHR.Reviews in endocrine & metabolic disorders · 2021Review
- GH Resistance Is a Component of Idiopathic Short Stature: Implications for rhGH Therapy.Frontiers in endocrinology · 2021Review
- Human growth disorders associated with impaired GH action: Defects in STAT5B and JAK2.Molecular and cellular endocrinology · 2021Review
- Severe growth failure associated with a novel heterozygous nonsense mutation in the GHR transmembrane domain leading to elevated growth hormone binding protein.Clinical endocrinology · 2020Article
- Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action.Endocrine reviews · 2019Review
- Genetics of Growth Disorders-Which Patients Require Genetic Testing?Frontiers in endocrinology · 2019Review
- Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation.Nature communications · 2018Article
- Growth Hormone Receptor Mutations Related to Individual Dwarfism.International journal of molecular sciences · 2018Review
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 8 institutions in 3 countries.
Funding
Abstract
contextAutosomal-recessive mutations in the growth hormone receptor (GHR) are the most common causes for primary growth hormone insensitivity (GHI) syndrome with classical GHI phenotypically characterized by severe short stature and marked insulin-like growth factor (IGF)-I deficiency. We report three families with dominant-negative heterozygous mutations in the intracellular domain of the
objectiveTo determine if the identified
resultsAll three mutations (c
conclusionDominant-negative
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.