ReviewJournal of medical genetics1994
Mouse homologues of human hereditary disease.
Review in Journal of medical genetics, 1994. 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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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
14 citing papers in PubMed, 60 citations in OpenAlex.
- Article
- Identification of genes required for eye development by high-throughput screening of mouse knockouts.Communications biology · 2018Article
- Use of designer nucleases for targeted gene and genome editing in plants.Plant biotechnology journal · 2016Review
- PLAC1 (Placenta-specific 1): a novel, X-linked gene with roles in reproductive and cancer biology.Prenatal diagnosis · 2010Review
- Fibrillin and the eye.The British journal of ophthalmology · 2000Article
- Genomics, mutations and the Internet: the naming and use of parts.Journal of inherited metabolic disease · 1999Article
- Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa.American journal of human genetics · 1997Article
- Pigment, platelets, and Hermansky-Pudlak in human and mouse.Proceedings of the National Academy of Sciences of the United States of America · 1997Review
- Comparative genome organization of vertebrates. The First International Workshop on Comparative Genome Organization.Mammalian genome : official journal of the International Mammalian Genome Society · 1996Article
- The role of the laboratory mouse in the human genome project.American journal of human genetics · 1996Review
- The dysmorphic human-mouse homology database (DHMHD): an interactive World-Wide Web resource for gene mapping.Journal of medical genetics · 1996Article
- The new dysmorphology: application of insights from basic developmental biology to the understanding of human birth defects.Proceedings of the National Academy of Sciences of the United States of America · 1995Review
- Identification of polymorphisms and sequence variants in the human homologue of the mouse natural resistance-associated macrophage protein gene.American journal of human genetics · 1995Article
- Dysmorphic disorders--an overview.Journal of inherited metabolic disease · 1994Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Details are given of 214 loci known to be associated with human hereditary disease, which have been mapped on both human and mouse chromosomes. Forty two of these have pathological variants in both species; in general the mouse variants are similar in their effects to the corresponding human ones, but exceptions include the Dmd/DMD and Hprt/HPRT mutations which cause little, if any, harm in mice. Possible reasons for phenotypic differences are discussed. In most pathological variants the gene product seems to be absent or greatly reduced in both species. The extensive data on conserved segments between human and mouse chromosomes are used to predict locations in the mouse of over 50 loci of medical interest which are mapped so far only on human chromosomes. In about 80% of these a fairly confident prediction can be made. Some likely homologies between mapped mouse loci and unmapped human ones are also given. Sixty six human and mouse proto-oncogene and growth factor gene homologies are also listed; those of confirmed location are all in known conserved segments. A survey of 18 mapped human disease loci and chromosome regions in which the manifestation or severity of pathological effects is thought to be the result of genomic imprinting shows that most of the homologous regions in the mouse are also associated with imprinting, especially those with homologues on human chromosomes 11p and 15q. Useful methods of accelerating the production of mouse models of human hereditary disease include (1) use of a supermutagen, such as ethylnitrosourea (ENU), (2) targeted mutagenesis involving ES cells, and (3) use of gene transfer techniques, with production of 'knockout mutations'.
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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.