ArticleAmerican journal of human genetics1996
The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 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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Who cites it
17 citing papers in PubMed, 80 citations in OpenAlex.
- Temporal manipulation of KCC3 expression in juvenile or adult mice suggests irreversible developmental deficit in hereditary motor sensory neuropathy with agenesis of the corpus callosum.American journal of physiology. Cell physiology · 2021Article
- KJournal of hematology & oncology · 2019Review
- A role for KCC3 in maintaining cell volume of peripheral nerve fibers.Neurochemistry international · 2019Review
- Deletion of KCC3 in parvalbumin neurons leads to locomotor deficit in a conditional mouse model of peripheral neuropathy associated with agenesis of the corpus callosum.Behavioural brain research · 2014Article
- Physiology of SLC12 transporters: lessons from inherited human genetic mutations and genetically engineered mouse knockouts.American journal of physiology. Cell physiology · 2013Review
- Differences between the pattern of developmental abnormalities in autism associated with duplications 15q11.2-q13 and idiopathic autism.Journal of neuropathology and experimental neurology · 2012Article
- Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity.Neurogenetics · 2006Article
- Detecting population growth, selection and inherited fertility from haplotypic data in humans.Genetics · 2003Article
- Agenesis of corpus callosum: prenatal diagnosis and prognosis.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2003Article
- The genetic convergence of Charcot-Marie-Tooth disease types 1 and 2 and the role of genetics in sporadic neuropathy.Current neurology and neuroscience reports · 2002Review
- A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23.American journal of human genetics · 2000Article
- Hereditary spastic paraparesis: a review of new developments.Journal of neurology, neurosurgery, and psychiatry · 2000Review
- N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom.American journal of human genetics · 2000Article
- Genome screens using linkage disequilibrium tests: optimal marker characteristics and feasibility.American journal of human genetics · 1998Article
- Founder BRCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families.American journal of human genetics · 1998Article
- Linkage of a neurophysiological deficit in schizophrenia to a chromosome 15 locus.Proceedings of the National Academy of Sciences of the United States of America · 1997Article
- Absence makes the search grow longer.American journal of human genetics · 1996Review
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Peripheral neuropathy with or without agenesis of the corpus callosum (ACCPN) is a devastating neurodegenerative disorder that is transmitted as an autosomal recessive trait. Genealogical studies in a large number of affected French Canadian individuals suggest that ACCPN results from a single founder mutation. A genomewide search using 120 microsatellite DNA markers in 14 French Canadian families allowed the mapping of the ACCPN gene to a 5-cM region on chromosome 15q13-q15 that is flanked by markers D15S1040 and D15S118. A maximum two-point LOD score of 11.1 was obtained with the marker D15S971 at a recombination fraction of 0. Haplotype analysis and linkage disequilibrium support a founder effect. These findings are the first step in the identification of the gene responsible for ACCPN, which may shed some light on the numerous conditions associated with the progressive peripheral neuropathy or agenesis of the corpus callosum.
Indexed as
Identifiers
8554065PMC1914947W1691998622What 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.