ArticleAmerican journal of human genetics2011
SMOC1 is essential for ocular and limb development in humans and mice.
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 64 papers, 4 of them syntheses that pooled it.
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Who cites it
64 citing papers in PubMed, 4 syntheses or guidelines pooled it, 116 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
- Integrative genomic analysis predicts novel functional enhancer-SNPs for bone mineral density.Human genetics · 2019Pooled 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
- Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.Human molecular genetics · 2014Pooled it
- Genetic association suggests that SMOC1 mediates between prenatal sex hormones and digit ratio.Human genetics · 2013Trial
- Subepithelial myofibroblasts enhance stem cell regeneration after intestinal epithelial damage.Development (Cambridge, England) · 2026Article
- Rare protein-coding variation and the genetic architecture of height in >1.4 million individuals.medRxiv : the preprint server for health sciences · 2026Article
- Evolution of limb and digit identity genes since the tetrapod ancestor.Nature communications · 2026Article
- Genotypic and phenotypic spectrum of anophthalmia/microphthalmia in families from Khyber Pakhtunkhwa, Pakistan.Journal of human genetics · 2025Article
- Human pancreatic α-cell heterogeneity and trajectory inference analyses reveal SMOC1 as a β-cell dedifferentiation gene.Nature communications · 2025Article
- The Spatial Transcriptomic Atlas of Human Limbus and Vital Niche Microenvironment Regulating the Fate of Limbal Epithelial Stem Cells.Investigative ophthalmology & visual science · 2025Article
- 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
- A 12 Week Fetus with Anophthalmia, Limb Anomalies and Infratemporal Teratoma.International journal of women's health · 2024Article
- Why do humans need thrombospondin-1?Journal of cell communication and signaling · 2023Review
- Analysis of the Selection Signal of the Tibetan Black Chicken Genome Based on Whole-Genome Sequencing.Genes · 2023Article
- SMOC-1 interacts with both BMP and glypican to regulate BMP signaling in C. elegans.PLoS biology · 2023Article
- Plasma Proteomics Unveil Novel Immune Signatures and Biomarkers upon SARS-CoV-2 Infection.International journal of molecular sciences · 2023Article
- Identification of hub proteins in cerebrospinal fluid as potential biomarkers of Alzheimer's disease by integrated bioinformatics.Journal of neurology · 2023Article
4 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
28 authors at 8 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Microphthalmia with limb anomalies (MLA) is a rare autosomal-recessive disorder, presenting with anophthalmia or microphthalmia and hand and/or foot malformation. We mapped the MLA locus to 14q24 and successfully identified three homozygous (one nonsense and two splice site) mutations in the SPARC (secreted protein acidic and rich in cysteine)-related modular calcium binding 1 (SMOC1) in three families. Smoc1 is expressed in the developing optic stalk, ventral optic cup, and limbs of mouse embryos. Smoc1 null mice recapitulated MLA phenotypes, including aplasia or hypoplasia of optic nerves, hypoplastic fibula and bowed tibia, and syndactyly in limbs. A thinned and irregular ganglion cell layer and atrophy of the anteroventral part of the retina were also observed. Soft tissue syndactyly, resulting from inhibited apoptosis, was related to disturbed expression of genes involved in BMP signaling in the interdigital mesenchyme. Our findings indicate that SMOC1/Smoc1 is essential for ocular and limb development in both humans and mice.
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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.