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Items: 23

1.

Genetic variation in RYR1 and malignant hyperthermia phenotypes.

Carpenter D, Robinson RL, Quinnell RJ, Ringrose C, Hogg M, Casson F, Booms P, Iles DE, Halsall PJ, Steele DS, Shaw MA, Hopkins PM.

Br J Anaesth. 2009 Oct;103(4):538-48. doi: 10.1093/bja/aep204. Epub 2009 Jul 31.

2.

A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families.

Carpenter D, Ismail A, Robinson RL, Ringrose C, Booms P, Iles DE, Halsall PJ, Steele D, Shaw MA, Hopkins PM.

Muscle Nerve. 2009 Oct;40(4):633-9. doi: 10.1002/mus.21397.

PMID:
19645060
3.

Epigenetic allele silencing and variable penetrance of malignant hyperthermia susceptibility.

Robinson RL, Carpenter D, Halsall PJ, Iles DE, Booms P, Steele D, Hopkins PM, Shaw MA.

Br J Anaesth. 2009 Aug;103(2):220-5. doi: 10.1093/bja/aep108. Epub 2009 May 19.

4.

Functional proteomics of BK potassium channels: defining the acute oxygen sensor.

Kemp PJ, Williams SE, Mason HS, Wootton P, Iles DE, Riccardi D, Peers C.

Novartis Found Symp. 2006;272:141-51; discussion 151-6, 214-7. Review.

PMID:
16686434
5.

In search of the acute oxygen sensor: functional proteomics and acute regulation of large-conductance, calcium-activated potassium channels by hemeoxygenase-2.

Kemp PJ, Peers C, Riccardi L, Iles DE, Mason HS, Wootton P, Williams SE.

Adv Exp Med Biol. 2006;580:137-46; discussion 351-9. No abstract available.

PMID:
16683710
6.

Hemoxygenase-2 is an oxygen sensor for a calcium-sensitive potassium channel.

Williams SE, Wootton P, Mason HS, Bould J, Iles DE, Riccardi D, Peers C, Kemp PJ.

Science. 2004 Dec 17;306(5704):2093-7. Epub 2004 Nov 4.

7.

siRNA knock-down of gamma-glutamyl transpeptidase does not affect hypoxic K+ channel inhibition.

Williams SE, Wootton P, Mason HS, Iles DE, Peers C, Kemp PJ.

Biochem Biophys Res Commun. 2004 Jan 30;314(1):63-8.

PMID:
14715246
8.

Multiple interacting gene products may influence susceptibility to malignant hyperthermia.

Robinson RL, Curran JL, Ellis FR, Halsall PJ, Hall WJ, Hopkins PM, Iles DE, West SP, Shaw MA.

Ann Hum Genet. 2000 Jul;64(Pt 4):307-20.

9.

Segregation of malignant hyperthermia, central core disease and chromosome 19 markers.

Curran JL, Hall WJ, Halsall PJ, Hopkins PM, Iles DE, Markham AF, McCall SH, Robinson RL, West SP, Bridges LR, Ellis FR.

Br J Anaesth. 1999 Aug;83(2):217-22.

10.

The G1021A substitution in the RYR1 gene does not cosegregate with malignant hyperthermia susceptibility in a British pedigree.

Adeokun AM, West SP, Ellis FR, Halsall PJ, Hopkins PM, Foroughmand AM, Iles DE, Robinson RL, Stewart AD, Curran JL.

Am J Hum Genet. 1997 Apr;60(4):833-41.

11.

[Malignant hyperthermia as a complication of anesthesia: predisposition is hereditary].

Snoeck MM, Gielen MJ, Sengers RC, Padberg GW, Iles DE, Booij LH.

Ned Tijdschr Geneeskd. 1997 Mar 29;141(13):616-9. Review. Dutch.

PMID:
9190536
12.

Properties of three COOH-terminal splice variants of a human cardiac L-type Ca2+-channel alpha1-subunit.

Klöckner U, Mikala G, Eisfeld J, Iles DE, Strobeck M, Mershon JL, Schwartz A, Varadi G.

Am J Physiol. 1997 Mar;272(3 Pt 2):H1372-81.

PMID:
9087614
13.

Anesthesiologic problems in Williams syndrome: the CACNL2A locus is not involved.

Mammi I, Iles DE, Smeets D, Clementi M, Tenconi R.

Hum Genet. 1996 Sep;98(3):317-20.

PMID:
8707301
14.

Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families.

Iles DE, Lehmann-Horn F, Scherer SW, Tsui LC, Olde Weghuis D, Suijkerbuijk RF, Heytens L, Mikala G, Schwartz A, Ellis FR, et al.

Hum Mol Genet. 1994 Jun;3(6):969-75.

PMID:
7951247
15.

Refined localization of the alpha 1-subunit of the skeletal muscle L-type voltage-dependent calcium channel (CACNL1A3) to human chromosome 1q32 by in situ hybridization.

Iles DE, Segers B, Olde Weghuis D, Suijkerbuijk R, Mikala G, Schwartz A, Wieringa B.

Genomics. 1994 Feb;19(3):561-3.

PMID:
8188298
16.

Multipoint mapping of the central core disease locus.

Schwemmle S, Wolff K, Palmucci LM, Grimm T, Lehmann-Horn F, Hübner C, Hauser E, Iles DE, MacLennan DH, Müller CR.

Genomics. 1993 Jul;17(1):205-7.

PMID:
8406450
17.

Genetic mapping of the beta 1- and gamma-subunits of the human skeletal muscle L-type voltage-dependent calcium channel on chromosome 17q and exclusion as candidate genes for malignant hyperthermia susceptibility.

Iles DE, Segers B, Sengers RC, Monsieurs K, Heytens L, Halsall PJ, Hopkins PM, Ellis FR, Hall-Curran JL, Stewart AD, et al.

Hum Mol Genet. 1993 Jul;2(7):863-8.

PMID:
8395940
18.

Cloning, chromosomal localization, and functional expression of the alpha 1 subunit of the L-type voltage-dependent calcium channel from normal human heart.

Schultz D, Mikala G, Yatani A, Engle DB, Iles DE, Segers B, Sinke RJ, Weghuis DO, Klöckner U, Wakamori M, et al.

Proc Natl Acad Sci U S A. 1993 Jul 1;90(13):6228-32.

19.

Refined genetic localization for central core disease.

Mulley JC, Kozman HM, Phillips HA, Gedeon AK, McCure JA, Iles DE, Gregg RG, Hogan K, Couch FJ, MacLennan DH, et al.

Am J Hum Genet. 1993 Feb;52(2):398-405.

22.

Trinucleotide repeat polymorphism at the D19S190 locus.

Iles DE, Segers B, de Jong P, Alleman J, Wieringa B.

Nucleic Acids Res. 1992 Mar 11;20(5):1170. No abstract available.

23.

Dinucleotide repeat polymorphism at the D19S191 locus.

Iles DE, Segers B, de Jong P, Alleman J, Wieringa B.

Nucleic Acids Res. 1992 Mar 11;20(5):1170. No abstract available.

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