ArticleProceedings of the National Academy of Sciences of the United States of America1995
Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 51 citations in OpenAlex.
- Pseudogenes in the carcinogenesis: epithelial-to-mesenchymal transition process and cancer initiating cells.Reports of practical oncology and radiotherapy : journal of Greatpoland Cancer Center in Poznan and Polish Society of Radiation Oncology · 2025Review
- Genome, HLA and polygenic risk score analyses for prevalent and persistent cervical human papillomavirus (HPV) infections.European journal of human genetics : EJHG · 2024Article
- Spinal Muscular Atrophy in the Black South African Population: A Matter of Rearrangement?Frontiers in genetics · 2020Article
- Retrotransposon-induced mosaicism in the neural genome.Open biology · 2018Review
- Epithelial mesenchymal transition from a natural gestational orchestration to a bizarre cancer disturbance.Cancer science · 2013Review
- Segmental duplications in euchromatic regions of human chromosome 5: a source of evolutionary instability and transcriptional innovation.Genome research · 2003Article
- Spinal muscular atrophy: present state.Brain pathology (Zurich, Switzerland) · 2001Review
- Spinal muscular atrophy: untangling the knot?Journal of medical genetics · 1999Review
- Article
- Maternal mosaicism for a second mutational event in a type I spinal muscular atrophy family.American journal of human genetics · 1998Article
- Genetic and physical mapping of the mouse host resistance locus Lgn1.Mammalian genome : official journal of the International Mammalian Genome Society · 1997Article
- Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype.American journal of human genetics · 1997Article
- Sequence mapping by electronic PCRGenome research · 1997Article
- Molecular characterization of Br-cadherin, a developmentally regulated, brain-specific cadherin.Proceedings of the National Academy of Sciences of the United States of America · 1997Article
- Molecular genetics of autosomal recessive spinal muscular atrophy.Molecular medicine (Cambridge, Mass.) · 1996Review
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
Low-copy repeats have been associated with genomic rearrangements and have been implicated in the generation of mutations in several diseases. Here we characterize a subset of low-copy repeats in the spinal muscular atrophy (SMA) region in human chromosome 5q13. We show that this repeated sequence, named c41-cad, is a highly expressed pseudogene derived from an intact neuronal cadherin gene, Br-cadherin, situated on 5p13-14. Br-cadherin is expressed specifically in the brain, whereas the c41-cad transcripts are 10-15 times more abundant and are present in all tissues examined. We speculate that the c41-cad repeats, separately or in concert with other repeats in the SMA region, are involved in the pathogenesis of SMA by promoting rearrangements and deletions.
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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.