ArticleEndocrine connections2013
3-M syndrome: a growth disorder associated with IGF2 silencing.
Article in Endocrine connections, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 22 citations in OpenAlex.
- NovelJournal of clinical research in pediatric endocrinology · 2024Article
- Gonadal Failure in a Male With 3-M Syndrome.JCEM case reports · 2024Article
- Establishment of the 3M syndrome animal model in CCDC8 knockout mice.Molecular biomedicine · 2023Article
- Molecular basis of a new ovine model for human 3M syndrome-2.BMC genetics · 2020Article
- Methylation-directed glycosylation of chromatin factors represses retrotransposon promoters.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Chemosensory Event-Related Potentials and Power Spectrum could be A Possible Biomarker in 3M Syndrome Infants?Brain sciences · 2020Article
- Murine obscurin and Obsl1 have functionally redundant roles in sarcolemmal integrity, sarcoplasmic reticulum organization, and muscle metabolism.Communications biology · 2019Article
- Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children.Scientific reports · 2017Article
- A Rare Cause of Short Stature: 3M Syndrome in a Patient with Novel Mutation in OBSL1 Gene.Journal of clinical research in pediatric endocrinology · 2017Article
- Signaling pathways regulating cartilage growth plate formation and activity.Seminars in cell & developmental biology · 2017Review
- Inhibition of HIV-1 assembly by coiled-coil domain containing protein 8 in human cells.Scientific reports · 2015Article
- Identifying biological pathways that underlie primordial short stature using network analysis.Journal of molecular endocrinology · 2014Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
Abstract
3-M syndrome is an autosomal recessive disorder characterised by pre- and post-natal growth restriction, facial dysmorphism, normal intelligence and radiological features (slender long bones and tall vertebral bodies). It is known to be caused by mutations in the genes encoding cullin 7, obscurin-like 1 and coiled-coil domain containing 8. The mechanisms through which mutations in these genes impair growth are unclear. The aim of this study was to identify novel pathways involved in the growth impairment in 3-M syndrome. RNA was extracted from fibroblast cell lines derived from four 3-M syndrome patients and three control subjects, hybridised to Affymetrix HU 133 plus 2.0 arrays with quantitative real-time PCR used to confirm changes found on microarray. IGF-II protein levels in conditioned cell culture media were measured by ELISA. Of the top 10 downregulated probesets, three represented IGF2 while H19 was identified as the 23rd most upregulated probeset. QRT-PCR confirmed upregulation of H19 (P<0.001) and downregulation of IGF2 (P<0.001). Levels of IGF-II secreted into conditioned cell culture medium were higher for control fibroblasts than those for 3-M fibroblasts (10.2±2.9 vs 0.6±0.9 ng/ml, P<0.01). 3-M syndrome is associated with a gene expression profile of reduced IGF2 expression and increased H19 expression similar to that found in Silver-Russell syndrome. Loss of autocrine IGF-II in the growth plate may be associated with the short stature seen in children with 3-M syndrome.
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