The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.
Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature
Open accessAbstract
The growth hormone (GH) secretagogue receptor (GHSR) was cloned as the target of a family of synthetic molecules endowed with GH release properties. As shown recently through in vitro means, this receptor displays a constitutive activity whose clinical relevance is unknown. Although pharmacological studies have demonstrated that its endogenous ligand--ghrelin--stimulates, through the GHSR, GH secretion and appetite, the physiological importance of the GHSR-dependent pathways remains an open question that gives rise to much controversy. We report the identification of a GHSR missense mutation that segregates with short stature within 2 unrelated families. This mutation, which results in decreased cell-surface expression of the receptor, selectively impairs the constitutive activity of the GHSR, while preserving its ability to respond to ghrelin. This first description, to our knowledge, of a functionally significant GHSR mutation, which unveils the critical importance of the GHSR-associated constitutive activity, discloses an unusual pathogenic mechanism of growth failure in humans.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Ghrelin is a growth-hormone-releasing acylated peptide from stomach
Kojima, M., Hosoda, H., Date, Y., Nakazato, M., Matsuo, H., & Kangawa, K. (1999) · Nature · doi:10.1038/45230 · Cited by 8,479
A role for ghrelin in the central regulation of feeding
Nakazato, M., Murakami, N., Date, Y., Kojima, M., Matsuo, H., Kangawa, K., & Matsukura, S. (2001) · Nature · doi:10.1038/35051587 · Cited by 3,443
A preprandial rise in plasma ghrelin levels suggests a role in meal initiation in humans
Cummings, D. E., Purnell, J. Q., Frayo, R. S., Schmidova, K., Wisse, B. E., & Weigle, D. S. (2001) · Diabetes · doi:10.2337/diabetes.50.8.1714 · Cited by 2,940 · cited 1×
“The first endogenous ligand of this receptor, discovered in 1999 and named ghrelin (3), is a hormone predominantly produced by the stomach (3) whose plasma levels fluctuate with food intake (4).”
BackgroundMelanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity
Vaisse, C., Clement, K., Durand, E., Hercberg, S., Guy-Grand, B., & Froguel, P. (2000) · Journal of Clinical Investigation · doi:10.1172/jci9238 · Cited by 897 · cited 1×
“Such loss-of-function mutations have been identified in numerous receptors, including the melanocortin-4 receptor (MC4R), in which they have been shown to be associated with obesity (29, 30).”
BackgroundGhrelin Strongly Stimulates Growth Hormone Release in Humans
Takaya, K., Ariyasu, H., Kanamoto, N., Iwakura, H., Yoshimoto, A., Harada, M., Mori, K., Komatsu, Y., Usui, T., Shimatsu, A., et al. (2000) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.85.12.7167 · Cited by 864 · cited 2×
“As shown in rodents and in humans, ghrelin stimulates GH secretion (3, 5, 6) and increases food intake and body weight (7–10).”
BackgroundHigh constitutive signaling of the ghrelin receptor–identification of a potent inverse agonist
Holst, B., Cygankiewicz, A., Jensen, T. H., Ankersen, M., & Schwartz, T. W. (2003) · Molecular Endocrinology · doi:10.1210/me.2003-0069 · Cited by 515
Cited by
Molitch, M. E., Clemmons, D. R., Malozowski, S., Merriam, G. R., & Vance, M. L. (2011) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2011-0179 · Cited by 1,047
Müller, T. D., Nogueiras, R., Andermann, M. L., Andrews, Z. B., Anker, S. D., Argente, J., Batterham, R. L., Benoit, S. C., Bowers, C. Y., Broglio, F., et al. (2015) · Molecular Metabolism · doi:10.1016/j.molmet.2015.03.005 · Cited by 1,034
Diet-Induced Obesity Causes Ghrelin Resistance in Arcuate NPY/AgRP Neurons
Briggs, D. I., Enriori, P. J., Lemus, M. B., Cowley, M. A., & Andrews, Z. B. (2010) · Endocrinology · doi:10.1210/en.2010-0556 · Cited by 320
Hippocampal dopamine/DRD1 signaling dependent on the ghrelin receptor
Kern, A., Mavrikaki, M., Ullrich, C., Albarran-Zeckler, R., Brantley, A. F., & Smith, R. G. (2015) · Cell · doi:10.1016/j.cell.2015.10.062 · Cited by 136
Lee, M. R., Tapocik, J. D., Ghareeb, M., Schwandt, M. L., Dias, A. A., Le, A. N., Cobbina, E., Farinelli, L. A., Bouhlal, S., Farokhnia, M., et al. (2020) · Molecular Psychiatry · doi:10.1038/s41380-018-0064-y · Cited by 129
In vivo characterization of high Basal signaling from the ghrelin receptor
Petersen, P. S., Woldbye, D. P. D., Madsen, A. N., Egerod, K. L., Jin, C., Lang, M., Rasmussen, M., Beck-Sickinger, A. G., & Holst, B. (2009) · Endocrinology · doi:10.1210/en.2008-1638 · Cited by 121
Role of endogenous ghrelin in growth hormone secretion, appetite regulation and metabolism
Dimaraki, E. V., & Jaffe, C. A. (2007) · Reviews in Endocrine and Metabolic Disorders · doi:10.1007/s11154-006-9022-0 · Cited by 84
Stievenard, A., Méquinion, M., Andrews, Z. B., Destée, A., Chartier-Harlin, M.-C., Viltart, O., & Vanbesien-Mailliot, C. C. (2017) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2016.11.021 · Cited by 39
Liu, T., Ji, R.-L., & Tao, Y.-X. (2022) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2021.108044 · Cited by 34
Kok, P., Paulo, R. C., Cosma, M., Mielke, K. L., Miles, J. M., Bowers, C. Y., & Veldhuis, J. D. (2008) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2008-0522 · Cited by 35
Monteiro, M. P. (2014) · Human Vaccines & Immunotherapeutics · doi:10.4161/hv.27537 · Cited by 16
Metadata
- Authors
- Pantel, J.
- Venue
- Journal of Clinical Investigation
- Published
- 2006-03-01
- Volume
- 116
- Issue
- 3
- Pages
- 760-768
- ISSN
- 0021-9738 (ISSN-L)
- OpenAlex
- W2153940484
- Cited by
- 358
- References
- 6
- FWCI
- 17.75
- Type
- journal article
- Language
- en
- Open access
- bronze
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
