ArticleAmerican journal of human genetics1995
Insertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 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.
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Who cites it
30 citing papers in PubMed, 156 citations in OpenAlex.
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- A contemporary clinical approach to genetic testing for heritable hyperparathyroidism syndromes.Endocrine · 2022Review
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- The Mobile Element Locator Tool (MELT): population-scale mobile element discovery and biology.Genome research · 2017Article
- Structural Variation ofGenomics & informatics · 2016Review
- Roles for retrotransposon insertions in human disease.Mobile DNA · 2016Review
- Engendering biased signalling from the calcium-sensing receptor for the pharmacotherapy of diverse disorders.British journal of pharmacology · 2014Review
- New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis.Mammalian genome : official journal of the International Mammalian Genome Society · 2012Article
- A novel CASR mutation in a Tunisian FHH/NSHPT family associated with a mental retardation.Molecular biology reports · 2012Article
- Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations.Best practice & research. Clinical rheumatology · 2008Review
- HIGM syndrome caused by insertion of an AluYb8 element in exon 1 of the CD40LG gene.Immunogenetics · 2007Article
- LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease: mutation detection bias and multiple mechanisms of target gene disruption.Journal of biomedicine & biotechnology · 2006Article
- Short interspersed elements (SINEs) are a major source of canine genomic diversity.Genome research · 2005Article
- A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease.Human genetics · 2005Review
- De novo insertion of an Alu sequence in the coding region of the CLCN5 gene results in Dent's disease.Human genetics · 2003Article
- An Alu-mediated rearrangement as cause of exon skipping in Hunter disease.Human genetics · 2003Article
- A novel mutation in Ca2+-sensing receptor gene in familial hypocalciuric hypercalcemia.Endocrine · 2001Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Missense mutations in the calcium-sensing receptor (CaR) gene have previously been identified in patients with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT). We studied family members of a Nova Scotian deme expressing both FHH and NSHPT and found, by PCR amplification of CaR gene exons, that FHH individuals were heterozygous and NSHPT individuals were homozygous for an abnormally large exon 7. This is due to an insertion at codon 877 of an Alu-repetitive element of the predicted-variant/human-specific-1 subfamily. It is in the opposite orientation to the CaR gene and contains an exceptionally long poly(A) tract. Stop signals are introduced in all reading frames within the Alu sequence, leading to a predicted shortened mutant CaR protein. The loss of the majority of the CaR carboxyl-terminal intracellular domain would dramatically impair its signal transduction capability. Identification of the specific mutation responsible for the FHH/NSHPT phenotype in this community will allow rapid testing of at-risk individuals.
Indexed as
Identifiers
7717399PMC1801194W1586082476What 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.