Prevalence and significance of DDX41 gene variants in the general population

Autor: Ambrose, J. C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C. R., Brittain, H., Brown, M. A., Caulfield, M. J., Chan, G. C., Giess, A., Griffin, J. N., Hamblin, A., Henderson, S., Hubbard, T. J. P., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., O‘Donovan, P., Odhams, C. A., Patch, C., Perez-Gil, D., Pereira, M. B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smith, S. C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A. L., Thomas, E. R. A., Thompson, S. R., Tucci, A., Welland, M. J., Williams, E., Witkowska, K., Wood, S. M., Zarowiecki, M., Cheloor Kovilakam, Sruthi, Gu, Muxin, Dunn, William G., Marando, Ludovica, Barcena, Clea, Nik-Zainal, Serena, Mohorianu, Irina, Kar, Siddhartha P., Fabre, Margarete A., Quiros, Pedro M., Vassiliou, George S.

Publikováno v: In Blood 5 October 2023 142(14):1185-1192

Toward Developing Intuitive Rules for Protein Variant Effect Prediction Using Deep Mutational Scanning Data

Autor: Hemalatha Balaram, Cheloor Kovilakam Sruthi, Meher K. Prakash

Publikováno v: ACS Omega
ACS Omega, Vol 5, Iss 46, Pp 29667-29677 (2020)

Protein structure and function can be severely altered by even a single amino acid mutation. Predictions of mutational effects using extensive artificial intelligence (AI)-based models, although accurate, remain as enigmatic as the experimental obser

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::230c425c5479d63325b9ebf1e0902a38
http://europepmc.org/articles/PMC7689672

P442: DDX41 GERMLINE VARIANTS: POPULATION PREVALENCE, SIGNIFICANCE AND LEUKEMIC EVOLUTION.

Autor: Cheloor Kovilakam, Sruthi, Gu, Muxin, Dunn, William G., Marando, Ludovica, Barcena, Clea, Nik Zainal, Serena, Mohorianu, Irina, Kar, Siddhartha P., Fabre, Margarete A., Quiros, Pedro M., Vassiliou, George S.

Publikováno v: HemaSphere; 2023 Supplement 3, Vol. 7, pe363625f-e363625f, 1p

Prevalence and significance of DDX41 gene variants in the general population.

Autor: Cheloor Kovilakam S; Wellcome-MRC Cambridge Stem Cell Institute, University of Cambridge, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge, United Kingdom., Gu M; Wellcome-MRC Cambridge Stem Cell Institute, University of Cambridge, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge, United Kingdom., Dunn WG; Wellcome-MRC Cambridge Stem Cell Institute, University of Cambridge, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.; Department of Haematology, Cambridge University Hospitals NHS Trust, Cambridge, United Kingdom., Marando L; Wellcome-MRC Cambridge Stem Cell Institute, University of Cambridge, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge, United Kingdom., Barcena C; Wellcome-MRC Cambridge Stem Cell Institute, University of Cambridge, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.; Department of Biochemistry and Molecular Biology, Universidad de Oviedo, Oviedo, Spain., Nik-Zainal S; Early Cancer Institute, Department of Oncology, University of Cambridge, Cambridge, United Kingdom., Mohorianu I; Wellcome-MRC Cambridge Stem Cell Institute, University of Cambridge, Cambridge, United Kingdom., Kar SP; Early Cancer Institute, Department of Oncology, University of Cambridge, Cambridge, United Kingdom.; MRC Integrative Epidemiology Unit, University of Bristol, Bristol, United Kingdom.; Section of Translational Epidemiology, Division of Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, United Kingdom., Fabre MA; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals Research and Development, AstraZeneca, Cambridge, United Kingdom., Quiros PM; Wellcome-MRC Cambridge Stem Cell Institute, University of Cambridge, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.; Instituto de Investigación Sanitaria del Principado de Asturias, Oviedo, Spain., Vassiliou GS; Wellcome-MRC Cambridge Stem Cell Institute, University of Cambridge, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.; Department of Haematology, Cambridge University Hospitals NHS Trust, Cambridge, United Kingdom.

Publikováno v: Blood [Blood] 2023 Oct 05; Vol. 142 (14), pp. 1185-1192.