ReviewProceedings of the National Academy of Sciences of the United States of America1997
Gene-based approach to human gene-phenotype correlations.
Review in Proceedings of the National Academy of Sciences of the United States of America, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
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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.
The trial behind it
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
20 citing papers in PubMed.
- Beyond the kidney biopsy: genomic approach to undetermined kidney diseases.Clinical kidney journal · 2024Article
- Diagnosis of Kidney Diseases of Unknown Etiology Through Biopsy-Genetic Analysis.Kidney international reports · 2023Article
- Translational Informatics for Natural Products as Antidepressant Agents.Frontiers in cell and developmental biology · 2021Review
- Autologous antibodies to outer retina in acute zonal occult outer retinopathy.Japanese journal of ophthalmology · 2014Article
- Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa.Molecular vision · 2014Article
- Bayesian joint selection of genes and pathways: applications in multiple myeloma genomics.Cancer informatics · 2014Article
- Phage therapy: eco-physiological pharmacology.Scientifica · 2014Review
- Molecular genetics of charcot-marie-tooth disease: from genes to genomes.Molecular syndromology · 2012Article
- Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.American journal of human genetics · 2010Article
- Sparse multitask regression for identifying common mechanism of response to therapeutic targets.Bioinformatics (Oxford, England) · 2010Article
- Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa.Molecular vision · 2009Article
- GeneSeeker: extraction and integration of human disease-related information from web-based genetic databases.Nucleic acids research · 2005Article
- Insulin receptor substrate 2 is essential for maturation and survival of photoreceptor cells.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2005Article
- Molecular aspects of retinal degenerative diseases.Cellular and molecular neurobiology · 2001Review
- The absence of diabetic retinopathy in patients with retinitis pigmentosa: implications for pathophysiology and possible treatment.The British journal of ophthalmology · 2001Review
- Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.American journal of human genetics · 2000Article
- Novel mechanism of massive photoreceptor degeneration caused by mutations in the trp gene of Drosophila.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2000Article
- Early onset photoreceptor abnormalities induced by targeted disruption of the interphotoreceptor retinoid-binding protein gene.The Journal of neuroscience : the official journal of the Society for Neuroscience · 1998Article
- Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis.Proceedings of the National Academy of Sciences of the United States of America · 1998Article
- The role of inflammation in the pathogenesis of age-related macular degeneration.Survey of ophthalmologyReview
Corrections and comments
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Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Elucidating the genetic basis of human phenotypes is a major goal of contemporary geneticists. Logically, two fundamental and contrasting approaches are available, one that begins with a phenotype and concludes with the identification of a responsible gene or genes; the other that begins with a gene and works toward identifying one or more phenotypes resulting from allelic variation of it. This paper provides a conceptual overview of phenotype-based vs. gene-based procedures with emphasis on gene-based methods. A key feature of a gene-based approach is that laboratory effort first is devoted to developing an assay for mutations in the gene under regard; the assay then is applied to the evaluation of large numbers of unrelated individuals with a variety of phenotypes that are deemed potentially resulting from alleles at the gene. No effort is directed toward chromosomally mapping the loci responsible for the phenotypes scanned. Example is made of my laboratory's successful use of a gene-based approach to identify genes causing hereditary diseases of the retina such as retinitis pigmentosa. Reductions in the cost and improvements in the speed of scanning individuals for DNA sequence anomalies may make a gene-based approach an efficient alternative to phenotype-based approaches to correlating genes with phenotypes.
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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.