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Biology and Biochemistry

D-Index
44
Citations
7273
World Ranking
19293
National Ranking
1496

Overview

Marie-Anne Shaw is affiliated with the University of Leeds in the United Kingdom and contributes to the fields of Biochemistry, Genetics and Molecular Biology as well as Medicine. Their research spans several subfields including Molecular Biology, Cardiology and Cardiovascular Medicine, Epidemiology, Physiology, and Genetics.

The scientist's work focuses on topics such as ion channel regulation and function, cardiovascular effects of exercise, mitochondrial function and pathology, heat shock proteins research, genetics and physical performance, genetic neurodegenerative diseases, and autophagy in disease and therapy.

Marie-Anne Shaw has authored numerous papers, notable among them are:

  • Investigating the genetic susceptibility to exertional heat illness, 2020, Journal of Medical Genetics
  • Variants in ASPH cause exertional heat illness and are associated with malignant hyperthermia susceptibility, 2022, Nature Communications
  • Bioenergetic defects in muscle fibers of RYR1 mutant knock-in mice associated with malignant hyperthermia, 2020, Journal of Biological Chemistry
  • An Association between OXPHOS-Related Gene Expression and Malignant Hyperthermia Susceptibility in Human Skeletal Muscle Biopsies, 2024, International Journal of Molecular Sciences
  • Single Amino Acid Changes in the Ryanodine Receptor in the Human Population Have Effects In Vivo on Caenorhabditis elegans Neuro-Muscular Function, 2020, Frontiers in Genetics

Frequent co-authors collaborating with Shaw include Philip M. Hopkins, Leon Chang, Lois Gardner, Catherine Daly, and Christine P. Diggle.

Their research is commonly published in venues such as:

  • British Journal of Anaesthesia
  • International Journal of Molecular Sciences
  • Journal of Medical Genetics
  • Nature Communications
  • Journal of Biological Chemistry

Best Publications

  • Mutations in RYR1 in malignant hyperthermia and central core disease.

    Rachel Robinson;Danielle Carpenter;Marie-Anne Shaw;Jane Halsall

  • Polymorphism in tumor necrosis factor genes associated with mucocutaneous leishmaniasis.

    Maira Cabrera;Marie Anne Shaw;Claire Sharples;Hazel Williams

  • Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes

    Alan H Handyside;Gary L Harton;Brian Mariani;Alan R Thornhill

  • Isothermal whole genome amplification from single and small numbers of cells: a new era for preimplantation genetic diagnosis of inherited disease

    Alan H. Handyside;Mark D. Robinson;Robert J. Simpson;Mark B. Omar

  • Pathogen evolution and disease emergence in carnivores

    Alex J McCarthy;Marie-Anne Shaw;Simon J Goodman

  • Evidence for a cluster of genes on chromosome 17q11-q21 controlling susceptibility to tuberculosis and leprosy in Brazilians

    S. E Jamieson;E. N Miller;G. F Black;C. S Peacock

  • Genomic organization and sequence of the human NRAMP gene: identification and mapping of a promoter region polymorphism.

    Blackwell Jm;Barton Ch;White Jk;Searle S

  • Detection of Leishmania infantum by PCR, serology and cellular immune response in a cohort study of Brazilian dogs.

    R.J. Quinnell;O. Courtenay;S. Davidson;L.M. Garcez

  • Evidence that genetic susceptibility to Mycobacterium tuberculosis in a brazilian population is under oligogenic control: Linkage study of the candidate genes NRAMP1 and TBFA

    M.A. Shaw;M.A. Shaw;A. Collins;C.S. Peacock;E.N. Miller

  • Genome-wide scans for leprosy and tuberculosis susceptibility genes in Brazilians.

    E.N. Miller;S.E. Jamieson;C. Joberty;M. Fakiola

  • Tissue Cytokine Responses in Canine Visceral Leishmaniasis

    Rupert J. Quinnell;Orin Courtenay;Marie-Anne Shaw;Michael J. Day

  • Susceptibility to visceral leishmaniasis in the domestic dog is associated with MHC class II polymorphism.

    Rupert J. Quinnell;Lorna J. Kennedy;Lorna J. Kennedy;Annette Barnes;Orin Courtenay

  • IgG subclass responses in a longitudinal study of canine visceral leishmaniasis

    RJ Quinnell;O Courtenay;O Courtenay;L Garcez;PM Kaye

  • The role of CACNA1S in predisposition to malignant hyperthermia.

    Danielle Carpenter;Christopher Ringrose;Vincenzo Leo;Andrew Morris

  • SARS-CoV-2 and COVID-19: A genetic, epidemiological, and evolutionary perspective.

    Manuela Sironi;Seyed E. Hasnain;Benjamin Rosenthal;Tung Phan

  • Immunogenetics of leishmanial and mycobacterial infections: the Belem Family Study.

    J M Blackwell;G F Black;C S Peacock;E N Miller

  • Association and linkage of leprosy phenotypes with HLA class II and tumour necrosis factor genes

    Marie-Anne Shaw;Marie-Anne Shaw;I. J Donaldson;A Collins;C. S Peacock

  • Immune Responses in Human Necatoriasis: Association between Interleukin-5 Responses and Resistance to Reinfection

    Rupert J. Quinnell;David I. Pritchard;Andrew Raiko;Alan P. Brown

  • Genetic regulation of leishmanial and mycobacterial infections: the Lsh / Ity / Bcg gene story continues

    J. M. Blackwell;C. H. Barton;J. K. White;T. I. A. Roach

  • Genetic variation in RYR1 and malignant hyperthermia phenotypes

    D. Carpenter;R.L. Robinson;R.J. Quinnell;C. Ringrose

Frequent Co-Authors

Jenefer M. Blackwell
Jenefer M. Blackwell Telethon Kids Institute
Rupert J. Quinnell
Rupert J. Quinnell University of Leeds
Jeffrey J. Shaw
Jeffrey J. Shaw Universidade de São Paulo
Paul D. Allen
Paul D. Allen St James's University Hospital
Andrew Collins
Andrew Collins University of Oslo
Geoff Daniels
Geoff Daniels NHS Blood and Transplant
Heather J. Cordell
Heather J. Cordell Newcastle University
William E R Ollier
William E R Ollier University of Manchester
Christopher Dye
Christopher Dye University of Oxford
Judith E. Smith
Judith E. Smith University of Salford

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