ArticleAmerican journal of human genetics2001
Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivity.
Article in American journal of human genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 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.
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Who cites it
30 citing papers in PubMed, 116 citations in OpenAlex.
- Genetic Findings in Short Turkish Children Born to Consanguineous Parents.Hormone research in paediatrics · 2025Observational
- hnRNPM protects against the dsRNA-mediated interferon response by repressing LINE-associated cryptic splicing.Molecular cell · 2024Article
- Short stature related to Growth Hormone Insensitivity (GHI) in childhood.Frontiers in endocrinology · 2023Review
- Novel Insights Into the Genetic Causes of Short Stature in Children.TouchREVIEWS in endocrinology · 2022Review
- 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
- Growth Hormone Receptor (GHR) 6Ω Pseudoexon Activation: a Novel Cause of Severe Growth Hormone Insensitivity.The Journal of clinical endocrinology and metabolism · 2021Article
- Genetic causes of growth hormone insensitivity beyond GHR.Reviews in endocrine & metabolic disorders · 2021Review
- The continuum between GH deficiency and GH insensitivity in children.Reviews in endocrine & metabolic disorders · 2021Review
- Growth failure: 'idiopathic' only after a detailed diagnostic evaluation.Endocrine connections · 2021Review
- Human growth disorders associated with impaired GH action: Defects in STAT5B and JAK2.Molecular and cellular endocrinology · 2021Review
- GH Resistance Is a Component of Idiopathic Short Stature: Implications for rhGH Therapy.Frontiers in endocrinology · 2021Review
- A 42-Year-Old Woman with Untreated Growth Hormone Insensitivity, Diabetic Retinopathy, and Gene Sequencing Identifies a Variant of Laron Syndrome.The American journal of case reports · 2019Article
- Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action.Endocrine reviews · 2019Review
- Deep intronic mutations and human disease.Human genetics · 2017Review
- Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency.Journal of the Endocrine Society · 2017Article
- NNT pseudoexon activation as a novel mechanism for disease in two siblings with familial glucocorticoid deficiency.The Journal of clinical endocrinology and metabolism · 2015Article
- Role of pseudoexons and pseudointrons in human cancer.International journal of cell biology · 2013Review
- Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein.European journal of endocrinology · 2011Article
- Genetic Defects in the Growth Hormone-IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth.Frontiers in endocrinology · 2011Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
Inherited growth-hormone insensitivity (GHI) is a heterogeneous disorder that is often caused by mutations in the coding exons or flanking intronic sequences of the growth-hormone receptor gene (GHR). Here we describe a novel point mutation, in four children with GHI, that leads to activation of an intronic pseudoexon resulting in inclusion of an additional 108 nt between exons 6 and 7 in the majority of GHR transcripts. This mutation lies within the pseudoexon (A(-1)-->G(-1) at the 5' pseudoexon splice site) and, under in vitro splicing conditions, results in inclusion of the mutant pseudoexon, whereas the wild-type pseudoexon is skipped. The presence of the pseudoexon results in inclusion of an additional 36-amino acid sequence in a region of the receptor known to be involved in homo-dimerization, which is essential for signal transduction.
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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.