RNA Polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation

Autor: Danya J. Martell, Hope E. Merens, Claudia Fiorini, Alexis Caulier, Jacob C. Ulirsch, Robert Ietswaart, Karine Choquet, Giovanna Graziadei, Valentina Brancaleoni, Maria Domenica Cappellini, Caroline Scott, Nigel Roberts, Melanie Proven, Noémi BA Roy, Christian Babbs, Douglas R. Higgs, Vijay G. Sankaran, L. Stirling Churchman

SummaryThe controlled release of promoter-proximal paused RNA polymerase II (Pol II) into productive elongation is a major step in gene regulation. However, functional analysis of Pol II pausing is difficult because factors that regulate pause releas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::800915e53878822adec809d30f93ead3
https://doi.org/10.1101/2023.03.03.23286760

Single-cell O 2 exchange imaging shows that cytoplasmic diffusion is a dominant barrier to efficient gas transport in red blood cells

Autor: Magbor Akanni, Noémi B. A. Roy, Pawel Swietach, Melanie Proven, Alzbeta Hulikova, Sarah L. Richardson, Ria Hipkiss

Publikováno v: Proceedings of the National Academy of Sciences. 117:10067-10078

Disorders of oxygen transport are commonly attributed to inadequate carrying capacity (anemia) but may also relate to inefficient gas exchange by red blood cells (RBCs), a process that is poorly characterized yet assumed to be rapid. Without direct m

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https://doi.org/10.1073/pnas.1916641117

Majeed syndrome: description of a novel mutation and therapeutic response to bisphosphonates and IL-1 blockade with anakinra

Autor: Christian Babbs, Melanie Proven, Akhila Kavirayani, Nick Wilkinson, Veronica J. Buckle, Ahmad I. Zaal, Noémi B. A. Roy, Simon J. McGowan, Georgina W. Hall, Ria Hipkiss

Publikováno v: Rheumatology (Oxford, England)

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http://europepmc.org/articles/PMC7571481

Hb Calgary (HBB: c.194G>T): A Highly Unstable Hemoglobin Variant with a β-Thalassemia Major Phenotype

Autor: Anne Grete Bechensteen, Doan Le, Renee Perrier, Thomas Fourie, Bente Fjeld, Shirley Henderson, Melanie Proven, Noémi B. A. Roy, Runa M. Grimholt, Olav Klingenberg, Georgina Martin

We describe two unrelated patients, both heterozygous for an unstable hemoglobin (Hb) variant named Hb Calgary (HBB: c.194G>T) that causes severe hemolytic anemia and dyserythorpoietic, resulting in transfusion dependence and iron overload. The molec

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http://hdl.handle.net/10852/93626

Genetic and functional insights into CDA-I prevalence and pathogenesis

Autor: Eva-Lena Maria Stattin, Christian Babbs, Johan Mäkk, Sanja Brolih, Caroline Scott, Damien J. Downes, Aude-Anais Olijnik, Melanie Proven, Kate Ryan, Douglas R. Higgs, Raffaele Renella, Quentin A. Hill, Anja Groth, Jill M. Brown, Katrine Ask, Nandini Sadasivam, Louisa McIlwaine, Ria Hipkiss, Veronica J. Buckle, Jim R. Hughes, Joseph A. Marsh, Noémi B. A. Roy, Per Frisk, Barbara Xella, Peter J. McHugh, Richard J. Gibbons, Errin Johnson, Karin Lauschke, Nigel A. Roberts

Publikováno v: Olijnik, A-A, Roy, N B A, Scott, C, Marsh, J A, Brown, J, Lauschke, K, Ask, K, Roberts, N, Downes, D J, Brolih, S, Johnson, E, Xella, B, Proven, M, Hipkiss, R, Ryan, K, Frisk, P, Mäkk, J, Stattin, E-L M, Sadasivam, N, McIlwaine, L, Hill, Q A, Renella, R, Hughes, J R, Gibbons, R J, Groth, A, McHugh, P J, Higgs, D R, Buckle, V J & Babbs, C 2020, ' Genetic and functional insights into CDA-I prevalence and pathogenesis ', Journal of Medical Genetics, vol. 58, pp. 185-195 . https://doi.org/10.1136/jmedgenet-2020-106880
J Med Genet
Olijnik, A A, Roy, N B A, Scott, C, Marsh, J A, Brown, J, Lauschke, K, Ask, K, Roberts, N, Downes, D J, Brolih, S, Johnson, E, Xella, B, Proven, M, Hipkiss, R, Ryan, K, Frisk, P, Mäkk, J, Stattin, E L M, Sadasivam, N, McIlwaine, L, Hill, Q A, Renella, R, Hughes, J R, Gibbons, R J, Groth, A, McHugh, P J, Higgs, D R, Buckle, V J & Babbs, C 2021, ' Genetic and functional insights into CDA-I prevalence and pathogenesis ', Journal of Medical Genetics, vol. 58, pp. 185-195 . https://doi.org/10.1136/jmedgenet-2020-106880
Olijnik, A-A, Roy, N, Scott, C, Marsh, J, Lauschke, K, Ask, K, Roberts, N, Downes, D J, Brown, J, Brolih, S, Johnson, E, Xella, B, Proven, M, Hipkiss, R, Ryan, K, Frisk, P, Makk, J, Stattin, E, Sadasivam, N, McIlwaine, L, Hill, Q A, Renella, R, Hughes, J R, Gibbons, R, Groth, A, McHugh, P J, Higgs, D R, Buckle, V J & Babbs, C 2020, ' Genetic and Functional Insights into CDA-I Prevalence and Pathogenesis ', Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2020-106880

BackgroundCongenital dyserythropoietic anaemia type I (CDA-I) is a hereditary anaemia caused by biallelic mutations in the widely expressed genes CDAN1 and C15orf41. Little is understood about either protein and it is unclear in which cellular pathwa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::028e96328f2aa1322c6bd5ccd97632f9
https://curis.ku.dk/ws/files/290041631/Genetic_and_functional_insights_into_CDA_I_prevalence_and_pathogenesis_proof_version_.pdf