ArticleBMC genetics2007
A single nucleotide mutation in Nppc is associated with a long bone abnormality in lbab mice.
Article in BMC genetics, 2007. 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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Who cites it
14 citing papers in PubMed, 30 citations in OpenAlex.
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- Translational science: Newly emerging science in biology and medicine - Lessons from translational research on the natriuretic peptide family and leptin.Proceedings of the Japan Academy. Series B, Physical and biological sciences · 2019Review
- Molecular Analysis of Sensory Axon Branching Unraveled a cGMP-Dependent Signaling Cascade.International journal of molecular sciences · 2018Review
- Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- 2q37 as a susceptibility locus for idiopathic basal ganglia calcification (IBGC) in a large South Tyrolean family.Journal of molecular neuroscience : MN · 2009Article
- Regulation of axonal development by natriuretic peptide hormones.Proceedings of the National Academy of Sciences of the United States of America · 2009Article
- Translational research of novel hormones: lessons from animal models and rare human diseases for common human diseases.Journal of molecular medicine (Berlin, Germany) · 2009Review
- C-type natriuretic peptide (CNP) is a bifurcation factor for sensory neurons.Proceedings of the National Academy of Sciences of the United States of America · 2009Article
- Systemic administration of C-type natriuretic peptide as a novel therapeutic strategy for skeletal dysplasias.Endocrinology · 2009Article
- Natriuretic peptides: their structures, receptors, physiologic functions and therapeutic applications.Handbook of experimental pharmacology · 2009Review
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Corrections and comments
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Authors and funding
9 authors at 5 institutions in 1 country.
Funding
Abstract
backgroundThe long bone abnormality (lbab) mouse is a new autosomal recessive mutant characterized by overall smaller body size with proportionate dwarfing of all organs and shorter long bones. Previous linkage analysis has located the lbab mutation on chromosome 1 between the markers D1Mit9 and D1Mit488.
resultsA genome-based positional approach was used to identify a mutation associated with lbab disease. A total of 122 genes and expressed sequence tags at the lbab region were screened for possible mutation by using genomic DNA from lbabl/lbab, lbab/+, and +/+ B6 mice and high throughput temperature gradient capillary electrophoresis. A sequence difference was identified in one of the amplicons of gene Nppc between lbab/lbab and +/+ mice. One-step reverse transcriptase polymerase chain reaction was performed to validate the difference of Nppc in different types of mice at the mRNA level. The mutation of Nppc was unique in lbab/lbab mice among multiple mouse inbred strains. The mutation of Nppc is co-segregated with lbab disease in 200 progenies produced from heterozygous lbab/+ parents.
conclusionA single nucleotide mutation of Nppc is associated with dwarfism in lbab/lbab mice. Current genome information and technology allow us to efficiently identify single nucleotide mutations from roughly mapped disease loci. The lbab mouse is a useful model for hereditary human achondroplasia.
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