ArticleAmerican journal of human genetics2011
Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.
Article in American journal of human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 2 of them syntheses that pooled it.
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Who cites it
38 citing papers in PubMed, 2 syntheses or guidelines pooled it, 81 citations in OpenAlex.
- Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Pooled it
- Genome-wide association study identifies nine novel loci for 2D:4D finger ratio, a putative retrospective biomarker of testosterone exposure in utero.Human molecular genetics · 2018Pooled it
- Genetic association suggests that SMOC1 mediates between prenatal sex hormones and digit ratio.Human genetics · 2013Trial
- SMOC2 promotes peritoneal metastasis of gastric cancer involving Wnt/β-catenin pathway modulation and inducing angiogenesis.Clinical and experimental medicine · 2025Article
- Associations of plasma SMOC1 and soluble IL6RA levels with the progression from mild cognitive impairment to dementia.Brain, behavior, & immunity - health · 2024Article
- SMOC1 colocalizes with Alzheimer's disease neuropathology and delays Aβ aggregation.Acta neuropathologica · 2024Article
- SMOC1 colocalizes with Alzheimer's disease neuropathology and delays Aβ aggregation.Research square · 2024Article
- Downregulation of SMOC1 is associated with progression of colorectal traditional serrated adenomas.BMC gastroenterology · 2024Article
- Why do humans need thrombospondin-1?Journal of cell communication and signaling · 2023Review
- SMOC2 promoted vascular smooth muscle cell proliferation, migration, and extracellular matrix degradation by activating BMP/TGF-β1 signaling pathway.Journal of clinical biochemistry and nutrition · 2023Article
- SMOC-1 interacts with both BMP and glypican to regulate BMP signaling in C. elegans.PLoS biology · 2023Article
- Article
- Cell fate decisions, transcription factors and signaling during early retinal development.Progress in retinal and eye research · 2022Review
- Article
- SPARC-related modular calcium binding 1 regulates aortic valve calcification by disrupting BMPR-II/p-p38 signalling.Cardiovascular research · 2022Article
- Hearing loss genes reveal patterns of adaptive evolution at the coding and non-coding levels in mammals.BMC biology · 2021Article
- Smoc1 and Smoc2 regulate bone formation as downstream molecules of Runx2.Communications biology · 2021Article
- Differential intolerance to loss of function and missense mutations in genes that encode human matricellular proteins.Journal of cell communication and signaling · 2021Article
- The Integrative Analysis of Competitive Endogenous RNA Regulatory Networks in Coronary Artery Disease.Frontiers in cardiovascular medicine · 2021Article
- Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes.Experimental eye research · 2020Review
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Waardenburg anophthalmia syndrome, also known as microphthalmia with limb anomalies, ophthalmoacromelic syndrome, and anophthalmia-syndactyly, is a rare autosomal-recessive developmental disorder that has been mapped to 10p11.23. Here we show that this disease is heterogeneous by reporting on a consanguineous family, not linked to the 10p11.23 locus, whose two affected children have a homozygous mutation in SMOC1. Knockdown experiments of the zebrafish smoc1 revealed that smoc1 is important in eye development and that it is expressed in many organs, including brain and somites.
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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.