Search Results - "Shaw, Anne"

Pathogen evolution and disease emergence in carnivores by McCarthy, Alex J, Shaw, Marie-Anne, Goodman, Simon J

“…Emerging infectious diseases constitute some of the most pressing problems for both human and domestic animal health, and biodiversity conservation. Currently…”
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An Association between OXPHOS-Related Gene Expression and Malignant Hyperthermia Susceptibility in Human Skeletal Muscle Biopsies by Chang, Leon, Motley, Rebecca, Daly, Catherine L, Diggle, Christine P, Hopkins, Philip M, Shaw, Marie-Anne

“…Malignant hyperthermia (MH) is a pharmacogenetic condition of skeletal muscle that manifests in hypermetabolic responses upon exposure to volatile…”
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Comparison of Transcriptomic Changes in Survivors of Exertional Heat Illness with Malignant Hyperthermia Susceptible Patients by Chang, Leon, Gardner, Lois, House, Carol, Daly, Catherine, Allsopp, Adrian, Roiz de Sa, Daniel, Shaw, Marie-Anne, Hopkins, Philip M

“…Exertional heat illness (EHI) is an occupational health hazard for athletes and military personnel–characterised by the inability to thermoregulate during…”
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Variants in ASPH cause exertional heat illness and are associated with malignant hyperthermia susceptibility by Endo, Yukari, Groom, Linda, Celik, Alper, Kraeva, Natalia, Lee, Chang Seok, Jung, Sung Yun, Gardner, Lois, Shaw, Marie-Anne, Hamilton, Susan L., Hopkins, Philip M., Dirksen, Robert T., Riazi, Sheila, Dowling, James J.

“…Exertional heat illness (EHI) and malignant hyperthermia (MH) are life threatening conditions associated with muscle breakdown in the setting of triggering…”
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Genetic diversity and transmission characteristics of Beijing family strains of Mycobacterium tuberculosis in Peru by Iwamoto, Tomotada, Grandjean, Louis, Arikawa, Kentaro, Nakanishi, Noriko, Caviedes, Luz, Coronel, Jorge, Sheen, Patricia, Wada, Takayuki, Taype, Carmen A, Shaw, Marie-Anne, Moore, David A J, Gilman, Robert H

“…Beijing family strains of Mycobacterium tuberculosis have attracted worldwide attention because of their wide geographical distribution and global emergence…”
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Single Amino Acid Changes in the Ryanodine Receptor in the Human Population Have Effects In Vivo on Caenorhabditis elegans Neuro-Muscular Function by Graham, Brittany, Shaw, Marie-Anne, Hope, Ian A

“…The ryanodine receptor mediates intracellular calcium ion release with excitation of nerve and muscle cells. Ryanodine receptor missense variants cause a…”
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The role of CACNA1S in predisposition to malignant hyperthermia by Carpenter, Danielle, Ringrose, Christopher, Leo, Vincenzo, Morris, Andrew, Robinson, Rachel L, Halsall, P Jane, Hopkins, Philip M, Shaw, Marie-Anne

“…Malignant hyperthermia (MH) is an inherited pharmacogenetic disorder of skeletal muscle, characterised by an elevated calcium release from the skeletal muscle…”
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Mosaic maternal ancestry in the Great Lakes region of East Africa by Gomes, Verónica, Pala, Maria, Salas, Antonio, Álvarez-Iglesias, Vanesa, Amorim, António, Gómez-Carballa, Alberto, Carracedo, Ángel, Clarke, Douglas J., Hill, Catherine, Mormina, Maru, Shaw, Marie-Anne, Dunne, David W., Pereira, Rui, Pereira, Vânia, Prata, Maria João, Sánchez-Diz, Paula, Rito, Teresa, Soares, Pedro, Gusmão, Leonor, Richards, Martin B.

“…The Great Lakes lie within a region of East Africa with very high human genetic diversity, home of many ethno-linguistic groups usually assumed to be the…”
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Aging Effects of Caenorhabditis elegans Ryanodine Receptor Variants Corresponding to Human Myopathic Mutations by Nicoll, Baines K, Ferreira, Célia, Hopkins, Philip M, Shaw, Marie-Anne, Hope, Ian A

“…Delaying the decline in skeletal muscle function will be critical to better maintenance of an active lifestyle in old age. The skeletal muscle ryanodine…”
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Isothermal whole genome amplification from single and small numbers of cells: a new era for preimplantation genetic diagnosis of inherited disease by Handyside, Alan H., Robinson, Mark D., Simpson, Robert J., Omar, Mark B., Shaw, Marie-Anne, Grudzinskas, J.Gedis, Rutherford, Anthony

“…Preimplantation genetic diagnosis (PGD) of single gene defects following assisted conception typically involves removal of single cells from preimplantation…”
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Inclusion of higher education disabled students: a Q-methodology study of lecturers’ attitudes by Shaw, Anne

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Immune Responses in Human Necatoriasis: Association between Interleukin-5 Responses and Resistance to Reinfection by Quinnell, Rupert J., Pritchard, David I., Raiko, Andrew, Brown, Alan P., Shaw, Marie-Anne

“…Cytokine and proliferative responses to Necator americanus infection were measured in a treatment-reinfection study of infected subjects from an area of Papua…”
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Divorce mediation outcome research: A meta-analysis by Shaw, Lori Anne

“…Mediation is a beneficial alternative to litigation for divorcing couples - supported by qualitative evidence…”
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Inclusion of disabled Higher Education students: why are we not there yet? by Shaw, Anne

“…This review tracks the last 50 years of the journey towards the inclusion of disabled students in Higher Education (H.E.). It provides a critical overview of…”
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One year into the pandemic: Short-term evolution of SARS-CoV-2 and emergence of new lineages by González-Candelas, Fernando, Shaw, Marie-Anne, Phan, Tung, Kulkarni-Kale, Urmila, Paraskevis, Dimitrios, Luciani, Fabio, Kimura, Hirokazu, Sironi, Manuela

“…The COVID-19 pandemic was officially declared on March 11th, 2020. Since the very beginning, the spread of the virus has been tracked nearly in real-time by…”
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Mutations in RYR1 in malignant hyperthermia and central core disease by Robinson, Rachel, Carpenter, Danielle, Shaw, Marie-Anne, Halsall, Jane, Hopkins, Philip

“…The RYR1 gene encodes the skeletal muscle isoform ryanodine receptor and is fundamental to the process of excitation–contraction coupling and skeletal muscle…”
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Mission Impossible or Mission Futile?: Estimating Penetrance for Malignant Hyperthermia by Shaw, Marie-Anne, Hopkins, Philip M

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Inclusion: the role of special and mainstream schools by Shaw, Anne

“…For children with special educational needs, seeds were sown for the move away from segregated settings to inclusion in mainstream settings following the 1978…”
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A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families by Carpenter, Danielle, Ismail, Azzam, Robinson, Rachel L., Ringrose, Christopher, Booms, Patrick, Iles, David E., Halsall, P. Jane, Steele, Derek, Shaw, Marie-Anne, Hopkins, Philip M.

“…In this study we present 3 families with malignant hyperthermia (MH), all of Indian subcontinent descent. One individual from each of these families was fully…”
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Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes by Handyside, Alan H, Harton, Gary L, Mariani, Brian, Thornhill, Alan R, Affara, Nabeel, Shaw, Marie-Anne, Griffin, Darren K

“…The use of genome wide single nucleotide polymorphism (SNP) arrays for high resolution molecular cytogenetic analysis using a combination of quantitative and…”
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