ArticleHuman molecular genetics2008
Neurofibromin regulates somatic growth through the hypothalamic-pituitary axis.
Article in Human molecular genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 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.
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Who cites it
26 citing papers in PubMed, 56 citations in OpenAlex.
- Unraveling neuronal and metabolic alterations in neurofibromatosis type 1.Journal of neurodevelopmental disorders · 2024Review
- A Novel HeterozygousJournal of clinical research in pediatric endocrinology · 2023Article
- Polysomnographic study in pediatric neurofibromatosis type 1.Frontiers in neurology · 2023Article
- Head circumference and anthropometric changes and their relation to plexiform and skin neurofibromas in sporadic and familial neurofibromatosis 1 Brazilian adults: a cross-sectional study.Orphanet journal of rare diseases · 2022Article
- Characterization of Two Loss-of-Function NF1 Variants in Chinese Patients and Potential Molecular Interpretations of Phenotypes.Frontiers in genetics · 2021Article
- Partial empty sella syndrome, GH deficiency and transient central adrenal insufficiency in a patient with NF1.Endocrine · 2020Article
- Autoimmune Thyroid Disease in Specific Genetic Syndromes in Childhood and Adolescence.Frontiers in endocrinology · 2020Review
- Article
- Increased insulin sensitivity in individuals with neurofibromatosis type 1.Archives of endocrinology and metabolism · 2018Article
- Graph complexity analysis identifies an ETV5 tumor-specific network in human and murine low-grade glioma.PloS one · 2018Article
- Endocrinological Evaluations of a Neurofibromatosis Type 1 Cohort: Is it Necessary to Evaluate Autoimmune Thyroiditis in Neurofibromatosis Type 1?Balkan medical journal · 2017Article
- Whole tumor RNA-sequencing and deconvolution reveal a clinically-prognostic PTEN/PI3K-regulated glioma transcriptional signature.Oncotarget · 2017Article
- Emerging genotype-phenotype relationships in patients with large NF1 deletions.Human genetics · 2017Review
- Sella turcica measurements on lateral cephalograms of patients with neurofibromatosis type 1.GMS Interdisciplinary plastic and reconstructive surgery DGPW · 2017Article
- Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome.Journal of clinical research in pediatric endocrinology · 2016Article
- Lower fasting blood glucose in neurofibromatosis type 1.Endocrine connections · 2016Article
- Neurofibromatosis 1-associated panhypopituitarism presenting as hypoglycaemic seizures and stroke-like symptoms.BMJ case reports · 2015Article
- Akt- or MEK-mediated mTOR inhibition suppresses Nf1 optic glioma growth.Neuro-oncology · 2015Article
- The impact of coexisting genetic mutations on murine optic glioma biology.Neuro-oncology · 2015Article
- Double NF1 inactivation affects adrenocortical function in NF1Prx1 mice and a human patient.PloS one · 2015Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
To study the role of the neurofibromatosis-1 (NF1) gene in mammalian brain development, we recently generated mice in which Nf1 gene inactivation occurs in neuroglial progenitor cells using the brain lipid binding protein (BLBP) promoter. We found that Nf1(BLBP)CKO mice exhibit significantly reduced body weights and anterior pituitary gland sizes. We further demonstrate that the small anterior pituitary size reflects loss of neurofibromin expression in the hypothalamus, leading to reduced growth hormone releasing hormone, pituitary growth hormone (GH) and liver insulin-like growth factor-1 (IGF1) production. Since neurofibromin both negatively regulates Ras activity and positively modulates cAMP levels, we examined the signaling pathway responsible for these abnormalities. While BLBP-mediated expression of an activated Ras molecule did not recapitulate the body weight and hypothalamic/pituitary defects, treatment of Nf1(BLBP)CKO mice with rolipram to increase cAMP levels resulted in a partial restoration of the body weight phenotype. Furthermore, conditional expression of the Ras regulatory GAP domain of neurofibromin also did not rescue the body weight or Igf1 mRNA defects in Nf1(BLBP)CKO mice. Collectively, these data demonstrate a critical role for neurofibromin in hypothalamic-pituitary axis function and provide further insights into the short stature and GH deficits seen in children with NF1.
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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.