Ryanodine receptor mutations in malignant hyperthermia and central core disease

TV McCarthy, KA Quane, PJ Lynch - Human mutation, 2000 - Wiley Online Library
Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that
manifests in response to anesthetic triggering agents. Central core disease (CCD) is a …

Localization of the malignant hyperthermia susceptibility locus to human chromosome 19ql2–13.2

TV McCarthy, JMS Healy, JJA Heffron, M Lehane… - Nature, 1990 - nature.com
MALIGNANT hyperthermia (MH) is an inherited human skeletal muscle disorder and is one
of the main causes of death due to anaesthesia1. The reported incidence of MH varies from …

[HTML][HTML] Caffeine and halothane sensitivity of intracellular Ca2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with …

J Tong, H Oyamada, N Demaurex, S Grinstein… - Journal of Biological …, 1997 - ASBMB
Malignant hyperthermia (MH) and central core disease (CCD) are autosomal dominant
disorders of skeletal muscle in which a potentially fatal hypermetabolic crisis can be …

[HTML][HTML] Measurement of resting cytosolic Ca2+ concentrations and Ca2+ store size in HEK-293 cells transfected with malignant hyperthermia or central core disease …

J Tong, TV McCarthy, DH MacLennan - Journal of Biological Chemistry, 1999 - ASBMB
Malignant hyperthermia (MH) and central core disease (CCD) mutations were introduced
into full-length rabbit Ca 2+ release channel (RYR1) cDNA, which was then expressed …

A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core …

PJ Lynch, J Tong, M Lehane, A Mallet… - Proceedings of the …, 1999 - National Acad Sciences
Central core disease is a rare, nonprogressive myopathy that is characterized by hypotonia
and proximal muscle weakness. In a large Mexican kindred with an unusually severe and …

[HTML][HTML] Advances in the diagnosis and early management of gestational trophoblastic disease

CM Joyce, B Fitzgerald, TV McCarthy, J Coulter… - BMJ …, 2022 - ncbi.nlm.nih.gov
Gestational trophoblastic disease describes a group of rare pregnancy related disorders that
span a spectrum of premalignant and malignant conditions. Hydatidiform mole (also termed …

[PDF][PDF] Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation

BM Manning, KA Quane, H Ording, A Urwyler… - The American Journal of …, 1998 - cell.com
Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that is
triggered in genetically predisposed individuals by common anesthetics and muscle …

The intracellular signal for induction of resistance to alkylating agents in E. coli

I Teo, B Sedgwick, MW Kilpatrick, TV McCarthy… - Cell, 1986 - cell.com
The E. coli ada gene positively controls its own expression and that of other genes (elkA,
a/k& aidB) involved In repair of DNA alkylatlon damage. The cloned ada and a/kA genes …

[HTML][HTML] Polymorphisms in bovine immune genes and their associations with somatic cell count and milk production in dairy cattle

C Beecher, M Daly, S Childs, DP Berry, DA Magee… - BMC genetics, 2010 - Springer
Background Mastitis, an inflammation of the mammary gland, is a major source of economic
loss on dairy farms. The aim of this study was to quantify the associations between two …

Administration of a live culture of Lactococcus lactis DPC 3147 into the bovine mammary gland stimulates the local host immune response, particularly IL-1β and IL-8 …

C Beecher, M Daly, DP Berry, K Klostermann… - Journal of Dairy …, 2009 - cambridge.org
Mastitis is one of the most costly diseases to the dairy farming industry. Conventional
antibiotic therapy is often unsatisfactory for successful treatment of mastitis and alternative …