The DOI matches its Crossref record; 38 of the 38 references it cites were found in a registry or an index.
Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson–Gilford progeria syndrome
Open accessAbstract
Hutchinson–Gilford progeria syndrome (HGPS) is an extremely rare, fatal, segmental premature aging syndrome caused by a mutation in LMNA that produces the farnesylated aberrant lamin A protein, progerin. This multisystem disorder causes failure to thrive and accelerated atherosclerosis leading to early death. Farnesyltransferase inhibitors have ameliorated disease phenotypes in preclinical studies. Twenty-five patients with HGPS received the farnesyltransferase inhibitor lonafarnib for a minimum of 2 y. Primary outcome success was predefined as a 50% increase over pretherapy in estimated annual rate of weight gain, or change from pretherapy weight loss to statistically significant on-study weight gain. Nine patients experienced a ≥50% increase, six experienced a ≥50% decrease, and 10 remained stable with respect to rate of weight gain. Secondary outcomes included decreases in arterial pulse wave velocity and carotid artery echodensity and increases in skeletal rigidity and sensorineural hearing within patient subgroups. All patients improved in one or more of these outcomes. Results from this clinical treatment trial for children with HGPS provide preliminary evidence that lonafarnib may improve vascular stiffness, bone structure, and audiological status.
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
Predicting basal metabolic rate, new standards and review of previous work.
Wn, S. (1985) · PubMed · Cited by 2,955
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome
Eriksson, M., Brown, W. T., Gordon, L. B., Glynn, M. W., Singer, J., Scott, L., Erdos, M. R., Robbins, C. M., Moses, T. Y., Berglund, P., et al. (2003) · Nature · doi:10.1038/nature01629 · Cited by 1,990
Self-citationCruickshank, K., Riste, L., Anderson, S. G., Wright, J. S., Dunn, G., & Gosling, R. G. (2002) · Circulation · doi:10.1161/01.cir.0000033824.02722.f7 · Cited by 1,531
Lamin a truncation in Hutchinson-Gilford progeria
De Sandre-Giovannoli, A., Bernard, R., Cau, P., Navarro, C., Amiel, J., Boccaccio, I., Lyonnet, S., Stewart, C. L., Munnich, A., Le Merrer, M., et al. (2003) · Science · doi:10.1126/science.1084125 · Cited by 1,346
Lamin A-dependent nuclear defects in human aging
Scaffidi, P., & Misteli, T. (2006) · Science · doi:10.1126/science.1127168 · Cited by 1,125
Goldman, R. D., Shumaker, D. K., Erdos, M. R., Eriksson, M., Goldman, A. E., Gordon, L. B., Gruenbaum, Y., Khuon, S., Mendez, M., Varga, R., et al. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0402943101 · Cited by 1,103
Self-citationClinical applications of arterial stiffness; definitions and reference values
O'Rourke, M. F., Staessen, J. A., Vlachopoulos, C., Duprez, D., & Plante, G. E. E. (2002) · American Journal of Hypertension · doi:10.1016/s0895-7061(01)02319-6 · Cited by 1,100
Phenotype and Course of Hutchinson–Gilford Progeria Syndrome
Merideth, M. A., Gordon, L. B., Clauss, S., Sachdev, V., Smith, A. C. M., Perry, M. B., Brewer, C. C., Zalewski, C., Kim, H. J., Solomon, B., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0706898 · Cited by 743
Self-citationNuclear Lamins: Laminopathies and Their Role in Premature Ageing
Broers, J. L. V., Ramaekers, F. C. S., Bonne, G., Yaou, R. B., & Hutchison, C. J. (2006) · Physiological Reviews · doi:10.1152/physrev.00047.2005 · Cited by 578
Hutchinson–Gilford progeria syndrome: Review of the phenotype
Hennekam, R. C. M. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31346 · Cited by 575
Cited by
Human iPSC-based modeling of late-onset disease via progerin-induced aging
Miller, J. D., Ganat, Y. M., Kishinevsky, S., Bowman, R. L., Liu, B., Tu, E. Y., Mandal, P. K., Vera, E., Shim, J.-W., Kriks, S., et al. (2013) · Cell stem cell · doi:10.1016/j.stem.2013.11.006 · Cited by 777
Fighting against Skin Aging: The Way from Bench to Bedside
Zhang, S., & Duan, E. (2018) · Cell Transplantation · doi:10.1177/0963689717725755 · Cited by 739
From geroscience to precision geromedicine: Understanding and managing aging
Kroemer, G., Maier, A. B., Cuervo, A. M., Gladyshev, V. N., Ferrucci, L., Gorbunova, V., Kennedy, B. K., Rando, T. A., Seluanov, A., Sierra, F., et al. (2025) · Cell · doi:10.1016/j.cell.2025.03.011 · Cited by 395
Hutchinson-Gilford Progeria Syndrome: A premature aging disease caused by LMNA gene mutations
Gonzalo, S., Kreienkamp, R., & Askjaer, P. (2017) · Ageing Research Reviews · doi:10.1016/j.arr.2016.06.007 · Cited by 324
Progeria: a paradigm for translational medicine
Gordon, L. B., Rothman, F. G., López-Otín, C., & Misteli, T. (2014) · Cell · doi:10.1016/j.cell.2013.12.028 · Cited by 278
Self-citation
Metadata
- Authors
- Gordon, L. B., Kleinman, M. E., Miller, D. T., Neuberg, D. S., Giobbie-Hurder, A., Gerhard-Herman, M., Smoot, L. B., Gordon, C. M., Cleveland, R., Snyder, B. D., Fligor, B., Bishop, W. R., Statkevich, P., Regen, A., Sonis, A., Riley, S., Ploski, C., Correia, A., Quinn, N., Ullrich, N. J., Nazarian, A., Liang, M. G., Huh, S. Y., Schwartzman, A., & Kieran, M. W.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 2012-09-24
- Volume
- 109
- Issue
- 41
- Pages
- 16666-16671
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2016268789
- Cited by
- 375
- References
- 38
- FWCI
- 12.08
- Type
- journal article
- Language
- en
- Open access
- green
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
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson–Gilford progeria syndrome. https://app.cochat.ai/papers/10.1073/pnas.1202529109
- The paper
- Gordon, L. B., Kleinman, M. E., Miller, D. T., Neuberg, D. S., Giobbie-Hurder, A., Gerhard-Herman, M., Smoot, L. B., Gordon, C. M., Cleveland, R., Snyder, B. D., Fligor, B., Bishop, W. R., Statkevich, P., Regen, A., Sonis, A., Riley, S., Ploski, C., Correia, A., Quinn, N., . . . Kieran, M. W. (2012). Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson–Gilford progeria syndrome. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.1202529109
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.
