ArticleHuman genetics2003
Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12).
Article in Human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed, 99 citations in OpenAlex.
- The Genetic Etiology Diagnosis of Fetal Growth Restriction Using Single-Nucleotide Polymorphism-Based Chromosomal Microarray Analysis.Frontiers in pediatrics · 2021Article
- Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms.Human molecular genetics · 2020Review
- Expression of miRNAs from the ImprintedCells · 2019Article
- Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.Genome medicine · 2019Article
- Loss of non-coding RNA expression from the DLK1-DIO3 imprinted locus correlates with reduced neural differentiation potential in human embryonic stem cell lines.Stem cell research & therapy · 2015Article
- In Pursuit of New Imprinting Syndromes by Epimutation Screening in Idiopathic Neurodevelopmental Disorder Patients.BioMed research international · 2015Article
- MicroRNAs of the miR379-410 cluster: New players in embryonic neurogenesis and regulators of neuronal function.Neurogenesis (Austin, Tex.) · 2015Review
- Genomic imprinting of the type 3 thyroid hormone deiodinase gene: regulation and developmental implications.Biochimica et biophysica acta · 2013Review
- Spatiotemporal expression pattern of Mirg, an imprinted non-coding gene, during mouse embryogenesis.Journal of molecular histology · 2012Article
- Radiological evaluation of dysmorphic thorax of paternal uniparental disomy 14.Pediatric radiology · 2011Article
- Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14.American journal of medical genetics. Part A · 2010Article
- Guidelines for the prenatal diagnosis of fetal skeletal dysplasias.Genetics in medicine : official journal of the American College of Medical Genetics · 2009Article
- Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis.American journal of medical genetics. Part A · 2008Article
- Comparative phylogenetic analysis reveals multiple non-imprinted isoforms of opossum Dlk1.Mammalian genome : official journal of the International Mammalian Genome Society · 2006Article
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Authors and funding
10 authors at 7 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Human paternal uniparental disomy for chromosome 14 (upd(14)pat) presents with skeletal abnormalities, joint contractures, dysmorphic facial features and developmental delay/mental retardation. Distal human chromosome 14 (HSA14) is homologous to distal mouse chromosome 12 (MMU12) and both regions have been shown to contain imprinted genes. In humans, consistent radiographic findings include a narrow, bell-shaped thorax with caudal bowing of the anterior ribs, cranial bowing of the posterior ribs and flaring of the iliac wings without shortening or dysplasia of the long bones. Mice with upd(12)pat have thin ribs with delayed ossification of the sternum, skull and feet. In both mice and humans, the axial skeleton is predominantly affected. We hypothesize that there is an imprinted gene or genes on HSA14/MMU12 that specifically affects rib/thorax development and the maturation of ossification centers in the sternum, feet and skull with little effect on long bone development.
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