A newly recognized syndromeof multiple congenital anomalies
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SLOS results from mutations in DHCR7, which reduces 7-dehydrocholesterol (7-DHC) to cholesterol in the final step of the cholesterol biosynthesis pathway.
“SLOS results from mutations in DHCR7, which reduces 7-dehydrocholesterol (7-DHC) to cholesterol in the final step of the cholesterol biosynthesis pathway (Smith et al., 1964).”
From Sterol dysregulation in Smith–Lemli–Opitz syndrome causes astrocyte immune reactivity through microglia crosstalk (2022) · cites this paper as Smith et al., 1964
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Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome
Tint, G. S., Irons, M., Elias, E. R., Batta, A. K., Frieden, R., Chen, T. S., & Salen, G. (1994) · New England Journal of Medicine · doi:10.1056/nejm199401133300205 · Cited by 798 · see citing works
Belmonte, M. K., Cook, E. H., Anderson, G. M., Rubenstein, J. L. R., Greenough, W. T., Beckel-Mitchener, A., Courchesne, E., Boulanger, L. M., Powell, S. B., Levitt, P. R., et al. (2004) · Molecular Psychiatry · doi:10.1038/sj.mp.4001499 · Cited by 442 · see citing works
Mutations in the Human Sterol Δ7-Reductase Gene at 11q12-13 Cause Smith-Lemli-Opitz Syndrome
Wassif, C. A., Maslen, C., Kachilele-Linjewile, S., Lin, D., Linck, L. M., Connor, W. E., Steiner, R. D., & Porter, F. D. (1998) · The American Journal of Human Genetics · doi:10.1086/301936 · Cited by 418 · see citing works
Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome
Irons, M., Roy Elias, E., Salen, G., Tint, G. S., & Batta, A. (1993) · The Lancet · doi:10.1016/0140-6736(93)90983-n · Cited by 368 · see citing works
Dysregulation of cholesterol balance in the brain: contribution to neurodegenerative diseases
Vance, J. E. (2012) · Disease Models & Mechanisms · doi:10.1242/dmm.010124 · Cited by 342 · see citing works
Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene
Waterham, H. R., Wijburg, F. A., Hennekam, R. C. M., Vreken, P., Poll-The, B. T., Dorland, L., Duran, M., Jira, P. E., Smeitink, J. A. M., Wevers, R. A., et al. (1998) · The American Journal of Human Genetics · doi:10.1086/301982 · Cited by 296 · see citing works
Kelley, R. I. (1995) · Clinica Chimica Acta · doi:10.1016/0009-8981(95)06038-4 · Cited by 234 · see citing works
Cholesterol Biosynthesis and Uptake in Developing Neurons
Genaro-Mattos, T. C., Anderson, A., Allen, L. B., Korade, Z., & Mirnics, K. (2019) · ACS Chemical Neuroscience · doi:10.1021/acschemneuro.9b00248 · Cited by 117 · see citing works
3β-Hydroxysterol Δ7-reductase and the Smith–Lemli–Opitz syndrome
Correa-Cerro, L. S., & Porter, F. D. (2005) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2004.09.017 · Cited by 92 · see citing works
Pathogenesis, epidemiology, diagnosis and clinical aspects of smith-lemli-opitz syndrome
Bianconi, S. E., Cross, J. L., Wassif, C. A., & Porter, F. D. (2015) · Expert Opinion on Orphan Drugs · doi:10.1517/21678707.2015.1014472 · Cited by 84 · see citing works
Autism: The role of cholesterol in treatment
Aneja, A., & Tierney, E. (2008) · International Review of Psychiatry · doi:10.1080/09540260801889062 · Cited by 82 · see citing works
Slominski, A. T., Kim, T.-K., Chen, J., Nguyen, M. N., Li, W., Yates, C. R., Sweatman, T., Janjetovic, Z., & Tuckey, R. C. (2012) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/j.biocel.2012.07.027 · Cited by 81 · see citing works
Correa-Cerro, L. S., Wassif, C. A., Kratz, L., Miller, G. F., Munasinghe, J. P., Grinberg, A., Fliesler, S. J., & Porter, F. D. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl003 · Cited by 75 · see citing works
Zmijewski, M. A., Li, W., Zjawiony, J. K., Sweatman, T. W., Chen, J., Miller, D. D., & Slominski, A. T. (2009) · Steroids · doi:10.1016/j.steroids.2008.10.017 · Cited by 62 · see citing works
Nowaczyk, M., & Waye, J. (2001) · Clinical Genetics · doi:10.1034/j.1399-0004.2001.590601.x · Cited by 61 · see citing works
Chignell, C. F., Kukielczak, B. M., Sik, R. H., Bilski, P. J., & He, Y.-Y. (2006) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2006.04.021 · Cited by 31 · see citing works
Changes in the Cerebrospinal Fluid and Plasma Lipidome in Patients with Rett Syndrome
Zandl-Lang, M., Züllig, T., Trötzmüller, M., Naegelin, Y., Abela, L., Wilken, B., Scholl-Buergi, S., Karall, D., Kappos, L., Köfeler, H., et al. (2022) · Metabolites · doi:10.3390/metabo12040291 · Cited by 30 · see citing works
Ramachandra Rao, S., Pfeffer, B. A., Más Gómez, N., Skelton, L. A., Keiko, U., Sparrow, J. R., Rowsam, A. M., Mitchell, C. H., & Fliesler, S. J. (2018) · Autophagy · doi:10.1080/15548627.2018.1490851 · Cited by 28 · see citing works
Relation between biomarkers and clinical severity in patients with Smith–Lemli–Opitz syndrome
Oláh, A. V., Szabó, G. P., Varga, J., Balogh, L., Csábi, G., Csákváry, V., Erwa, W., & Balogh, I. (2013) · European Journal of Pediatrics · doi:10.1007/s00431-012-1925-z · Cited by 22 · see citing works
Freel, B. A., Kelvington, B. A., Sengupta, S., Mukherjee, M., & Francis, K. R. (2022) · Disease Models & Mechanisms · doi:10.1242/dmm.049843 · Cited by 17 · see citing works
“SLOS results from mutations in DHCR7 , which reduces 7-dehydrocholesterol (7-DHC) to cholesterol in the final step of the cholesterol biosynthesis pathway (Smith et al., 1964).”
Phototesting in patients with Smith–Lemli–Opitz syndrome confirms sensitivity to UV-A
Martin, J. A. (2006) · Archives of Dermatology · doi:10.1001/archderm.142.5.647 · Cited by 10 · see citing works
- Authors
- Smith, D. W., Lemli, L., & Opitz, J. M.
- Affiliations
- University of Wisconsin–Madison (US)
- Venue
- The Journal of Pediatrics
- Publisher
- Elsevier BV
- Published
- 1964-02
- Volume
- 64
- Issue
- 2
- Pages
- 210-217
- ISSN
- 0022-3476 (ISSN-L)
- OpenAlex
- W2156679744
- Cited by
- 650
- References
- 0
- Citations by year
- 2026: 6 · 2025: 8 · 2024: 6 · 2023: 10 · 2022: 10 · 2021: 18 · 2020: 17 · 2019: 14 · 2018: 12 · 2017: 13 · 2016: 20 · 2015: 13 · 2014: 19 · 2013: 15 · 2012: 22
- FWCI
- 11.55
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Journal of Pediatrics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Developmental Biology › Congenital limb and hand anomalies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Health Sciences › Medicine › Genetics › Congenital Ear and Nasal Anomalies
- Keywords
- multiple congenital anomalies, microcephaly, intellectual disability, hypertonia, facial anomalies, hand and foot anomalies, congenital pyloric stenosis, genetic etiology, familial occurrence
- MeSH terms
- Congenital Abnormalities, Abnormalities, Multiple, Child, Facial Expression, Foot, Genetics, Medical, Genitalia, Genitalia, Male, Growth, Hand Deformities, Humans, Infant, Male, Intellectual Disability, Microcephaly, Pyloric Stenosis, Syndrome
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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.
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