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Missense mutation & programme to predict function

A H Schiemann, K M Stowell
BACKGROUND: Malignant hyperthermia (MH) is a pharmacogenetic disorder that has been linked to the skeletal muscle calcium release channel (RYR1) and the α1S subunit of the voltage-dependent L-type calcium channel (CACNA1S). Genomic DNA capture and next generation sequencing are becoming the preferred method to identify mutations in these genes. Bioinformatic pathogenicity prediction of identified variants may help to determine if these variants are in fact disease causing. METHODS: Eight pathogenicity prediction programmes freely available on the web were used to determine their ability to correctly predict the impact of a missense variant on RyR1 or dihydropyridine receptor (DHPR) protein function...
July 2016: British Journal of Anaesthesia
Alfonso Clemente, Maria C Arques, Marion Dalmais, Christine Le Signor, Catherine Chinoy, Raquel Olias, Tracey Rayner, Peter G Isaac, David M Lawson, Abdelhafid Bendahmane, Claire Domoney
Several classes of seed proteins limit the utilisation of plant proteins in human and farm animal diets, while plant foods have much to offer to the sustainable intensification of food/feed production and to human health. Reduction or removal of these proteins could greatly enhance seed protein quality and various strategies have been used to try to achieve this with limited success. We investigated whether seed protease inhibitor mutations could be exploited to enhance seed quality, availing of induced mutant and natural Pisum germplasm collections to identify mutants, whilst acquiring an understanding of the impact of mutations on activity...
2015: PloS One
Ghulam Mujtaba, Julie M Schultz, Ayesha Imtiaz, Robert J Morell, Thomas B Friedman, Sadaf Naz
BACKGROUND: Hearing loss is a heterogeneous neurosensory disorder. Mutations of 56 genes are reported to cause recessively inherited non-syndromic deafness. OBJECTIVE: We sought to identify the genetic lesion causing hearing loss segregating in a large consanguineous Pakistani family. METHODS AND RESULTS: Mutations of GJB2 and all other genes reported to underlie recessive deafness were ruled out as the cause of the phenotype in the affected members of the participating family...
August 2015: Journal of Medical Genetics
James A Poulter, Steven J Brookes, Roger C Shore, Claire E L Smith, Layal Abi Farraj, Jennifer Kirkham, Chris F Inglehearn, Alan J Mighell
We identified a family in which pitted hypomineralized amelogenesis imperfecta (AI) with premature enamel failure segregated in an autosomal recessive fashion. Whole-exome sequencing revealed a missense mutation (c.586C>A, p.P196T) in the I-domain of integrin-β6 (ITGB6), which is consistently predicted to be pathogenic by all available programmes and is the only variant that segregates with the disease phenotype. Furthermore, a recent study revealed that mice lacking a functional allele of Itgb6 display a hypomaturation AI phenotype...
April 15, 2014: Human Molecular Genetics
D Bartsch, I Kopp, A Bergenfelz, H Rieder, Y Deiss, K Münch, M Rothmund, B Simon
BACKGROUND AND OBJECTIVE: Mutations in the MEN 1 gene were recently discovered as the causative genetic defect of the autosomal dominantly inherited multiple endocrine neoplasia type 1. It was the aim of this study to evaluate the spectrum of MEN 1 mutations in our own series of patients in order to obtain a basis for predictive family screening. PATIENTS AND METHODS: Genomic DNA from peripheral blood of 21 patients with MEN 1, members of 14 non-related MEN 1 families, was examined for MEN 1 germ-line mutations by means of single-strand conformation variant analysis (SSCP) and direct DNA sequencing...
December 18, 1998: Deutsche Medizinische Wochenschrift
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