ArticleAmerican journal of human genetics1993
Two-hit model for sporadic congenital anomalies in mice with the disorganization mutation.
Article in American journal of human genetics, 1993. 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, 47 citations in OpenAlex.
- A rare case of mobile diplopodia mistaken for polydactyly.Archive of clinical cases · 2023Article
- The Orthopaedic Management of Human Disorganization Syndrome.Journal of the American Academy of Orthopaedic Surgeons. Global research & reviews · 2020Article
- Epidemiology and risk factors of amniotic band syndrome, or ADAM sequence.Journal of prenatal medicine · 2012Article
- Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size.Molecular cytogenetics · 2012Article
- "Mistakes happen": somatic mutation and disease.American journal of human genetics · 1997Article
- Variable expressivity of patched mutations in flies and humans.American journal of human genetics · 1997Article
- Goldenhar, Möbius and hypoglossia-hypodactyly anomalies in a patient: syndrome or association?European journal of pediatrics · 1996Article
- Monozygotic twins with chromosome 22q11 deletion and discordant phenotype.Journal of medical genetics · 1996Article
- Diagnostic distinction between anencephaly and amnion rupture sequence based on skeletal analysis.Journal of medical genetics · 1994Article
- Limb and lower-body duplications induced by retinoic acid in mice.Proceedings of the National Academy of Sciences of the United States of America · 1994Article
- Dysmorphic disorders--an overview.Journal of inherited metabolic disease · 1994Review
- Human malformations similar to those in the mouse mutation disorganization (Ds).Human genetics · 1993Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Congenital anomalies have complex etiologies involving both genetic and nongenetic components. Many are sporadic, without obvious evidence for heritability. An important model for these anomalies is a mutation in laboratory mice that is called "disorganization" (Ds), which functions as a variable autosomal dominant and leads to a wide variety of congenital anomalies involving many developmental processes and systems. Variable expressivity, asymmetrical manifestations, and low penetrance suggest that somatic events determine the location and nature of these anomalies. A statistical analysis suggests that occurrence of anomalies in mice with the Ds mutation follows a Poisson distribution. These results suggest that congenital anomalies in mice with the Ds mutation occur independently of each other. We propose that Ds causes a heritable predisposition to congenital anomalies and that Ds and appropriate somatic events combine to compromise normal development. We also propose that some sporadic, nonheritable congenital anomalies involve somatic mutations at Ds-like loci. Ds may therefore serve not only as a model for developmental anomalies in cell fate and pattern formation but also for complex developmental traits showing variable expressivity, low penetrance, and sporadic occurrence in mice and humans.
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Identifiers
8488837PMC1682043W1572625821What OpenQuestion holds
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.