ArticleGenetics2004
Molecular and comparative genetics of mental retardation.
Article in Genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 94 papers, 1 of them a synthesis that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
94 citing papers in PubMed, 1 synthesis or guideline pooled it, 251 citations in OpenAlex.
- Evaluating historical candidate genes for schizophrenia.Molecular psychiatry · 2015Pooled it
- Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation.Journal of medical genetics · 2007Trial
- Association analysis of mild mental impairment using DNA pooling to screen 432 brain-expressed single-nucleotide polymorphisms.Molecular psychiatry · 2005Trial
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- DeepND: Deep multitask learning of gene risk for comorbid neurodevelopmental disorders.Patterns (New York, N.Y.) · 2022Article
- A Novel Loss-of-FunctionInternational journal of molecular sciences · 2022Article
- The disease-associated proteins Drosophila Nab2 and Ataxin-2 interact with shared RNAs and coregulate neuronal morphology.Genetics · 2022Article
- Dendritic Spine Initiation in Brain Development, Learning and Diseases and Impact of BAR-Domain Proteins.Cells · 2021Review
- Whole exome sequencing revealed novel variants in consanguineous Pakistani families with intellectual disability.Genes & genomics · 2021Article
- Natural history of social and sexual behavior in fruit flies.Scientific reports · 2020Article
- Identification and In Silico Characterization of a Novel Point Mutation within the Phosphatidylinositol Glycan Anchor Biosynthesis Class G Gene in an Iranian Family with Intellectual Disability.Journal of molecular neuroscience : MN · 2019Article
- Traumatic injury in female Drosophila melanogaster affects the development and induces behavioral abnormalities in the offspring.Behavioral and brain functions : BBF · 2019Article
- Importance of patient selection criteria in determining diagnostic copy number variations in patients with multiple congenital anomaly/mental retardation.Molecular cytogenetics · 2019Article
- Species-Specific Changes in a Primate Transcription Factor Network Provide Insights into the Molecular Evolution of the Primate Prefrontal Cortex.Genome biology and evolution · 2018Article
- Assessing Relevance of External Cognitive Measures.Frontiers in integrative neuroscience · 2017Review
- Relationship between genotype and arcuate fasciculus morphology in six young children with global developmental delay: Preliminary DTI stuy.Journal of magnetic resonance imaging : JMRI · 2016Article
- Article
- A Christianson syndrome-linked deletion mutation (∆(287)ES(288)) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell death.Molecular neurodegeneration · 2016Article
- A genome-wide analysis of putative functional and exonic variation associated with extremely high intelligence.Molecular psychiatry · 2016Article
- Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules.American journal of human genetics · 2016Article
34 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
2 authors at 1 institution in 1 country.
Funding
Abstract
Affecting 1-3% of the population, mental retardation (MR) poses significant challenges for clinicians and scientists. Understanding the biology of MR is complicated by the extraordinary heterogeneity of genetic MR disorders. Detailed analyses of >1000 Online Mendelian Inheritance in Man (OMIM) database entries and literature searches through September 2003 revealed 282 molecularly identified MR genes. We estimate that hundreds more MR genes remain to be identified. A novel test, in which we distributed unmapped MR disorders proportionately across the autosomes, failed to eliminate the well-known X-chromosome overrepresentation of MR genes and candidate genes. This evidence argues against ascertainment bias as the main cause of the skewed distribution. On the basis of a synthesis of clinical and laboratory data, we developed a biological functions classification scheme for MR genes. Metabolic pathways, signaling pathways, and transcription are the most common functions, but numerous other aspects of neuronal and glial biology are controlled by MR genes as well. Using protein sequence and domain-organization comparisons, we found a striking conservation of MR genes and genetic pathways across the approximately 700 million years that separate Homo sapiens and Drosophila melanogaster. Eighty-seven percent have one or more fruit fly homologs and 76% have at least one candidate functional ortholog. We propose that D. melanogaster can be used in a systematic manner to study MR and possibly to develop bioassays for therapeutic drug discovery. We selected 42 Drosophila orthologs as most likely to reveal molecular and cellular mechanisms of nervous system development or plasticity relevant to MR.
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What 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.