Dr Karen Knapp
| Position | Genetics Teaching Fellow |
|---|---|
| Department | Department of Biochemistry |
| Research summary | Genetic disorders, cancer |
Research
She completed her PhD in the research group of Professor Norbert Sträter at Leipzig University, Germany (2010), carrying out research involving the biochemical and structural characterization of a cancer drug target (CD73). She went on to carry out postdoctoral research within the Biochemistry Department, at the University of Otago (2010-2013), involving the structural characterisation of viral and host protein complexes, followed by further postdoctoral research at the North West Cancer Research Institute, Bangor University, UK (2013-2015), investigating DNA repair mechanisms and their role in cancer. In 2016 Karen joined the Bicknell Lab as a postdoctoral research fellow, and is carrying out research which focuses on identifying and characterising novel DNA replication components, in which mutations cause the rare Mendelian disorder Meier-Gorlin syndrome (MGS).
Publications
Knapp, K., Naik, N., Ray, S., van Haaften, G., & Bicknell, L. S. (2023). Histones: Coming of age in Mendelian genetic disorders. Journal of Medical Genetics. Advance online publication. doi: 10.1136/jmg-2022-109085
Tessadori, F., Duran, K., Knapp, K., Fellner, M., Deciphering Developmental Disorders Study, Smithson, S., … Robertson, S. P., … Mace, P. D., Bicknell, L. S., & van Haaften, G. (2022). Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome. American Journal of Human Genetics. Advance online publication. doi: 10.1016/j.ajhg.2022.02.003
Knapp, K. M., Jenkins, D. E., Sullivan, R., Harms, F. L., von Elsner, L., Ockeloen, C. W., … Bicknell, L. S. (2021). MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency. European Journal of Human Genetics, 29, 1110-1120. doi: 10.1038/s41431-021-00839-4
Knapp, K. M., Fellows, B., Aggarwal, S., Dalal, A., & Bicknell, L. S. (2021). A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis. European Journal of Medical Genetics, 64(4), 104182. doi: 10.1016/j.ejmg.2021.104182
Knapp, K. M., Murray, J., Temple, I. K., & Bicknell, L. S. (2021). Successful pregnancies in an adult with Meier-Gorlin syndrome harboring biallelic CDT1 variants. American Journal of Medical Genetics Part A, 185A, 871-876. doi: 10.1002/ajmg.a.62016
Tessadori, F., Duran, K., Knapp, K., Fellner, M., Deciphering Developmental Disorders Study, Smithson, S., … Robertson, S. P., … Mace, P. D., Bicknell, L. S., & van Haaften, G. (2022). Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome. American Journal of Human Genetics. Advance online publication. doi: 10.1016/j.ajhg.2022.02.003
Journal - Research Article
Blakes, A. J. M., Gaul, E., Lam, W., Shannon, N., Knapp, K. M., Bicknell, L. S., Jackson, M. R., Wade, E. M., Robertson, S., … Douglas, A. G. L. (2021). Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity. European Journal of Human Genetics, 29, 593-603. doi: 10.1038/s41431-020-00766-w
Journal - Research Article
Knapp, K. M., Fellows, B., Aggarwal, S., Dalal, A., & Bicknell, L. S. (2021). A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis. European Journal of Medical Genetics, 64(4), 104182. doi: 10.1016/j.ejmg.2021.104182
Journal - Research Article
Knapp, K. M., Jenkins, D. E., Sullivan, R., Harms, F. L., von Elsner, L., Ockeloen, C. W., … Bicknell, L. S. (2021). MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency. European Journal of Human Genetics, 29, 1110-1120. doi: 10.1038/s41431-021-00839-4
Journal - Research Article
Knapp, K. M., Luu, R., Baerenfaenger, M., Zijlstra, F., Wessels, H. J. C. T., Jenkins, D., … Bicknell, L. S. (2020). Biallelic variants in SLC35C1 as a cause of isolated short stature with intellectual disability. Journal of Human Genetics, 65, 743-750. doi: 10.1038/s10038-020-0764-4
Journal - Research Article
Knapp, K. M., Sullivan, R., Murray, J., Gimenez, G., Arn, P., D'Souza, P., … Bicknell, L. S. (2020). Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome. Journal of Medical Genetics, 57, 195-202. doi: 10.1136/jmedgenet-2019-106396
Journal - Research Article
Villahermosa, D., Christensen, O., Knapp, K., & Fleck, O. (2017). Schizosaccharomyces pombe MutSα and MutLα maintain stability of tetra-nucleotide repeats and Msh3 of hepta-nucleotide repeats. Genes Genomes Genetics, 7(5), 1463-1473. doi: 10.1534/g3.117.040816
Journal - Research Article
Villahermosa, D., Knapp, K., & Fleck, O. (2017). A mutated dph3 gene causes sensitivity of Schizosaccharomyces pombe cells to cytotoxic agents. Current Genetics, 63(6), 1081-1091. doi: 10.1007/s00294-017-0711-x
Journal - Research Article
Couñago, R. M., Knapp, K. M., Nakatani, Y., Fleming, S. B., Corbett, M., Wise, L. M., Mercer, A. A., & Krause, K. L. (2015). Structures of orf virus chemokine binding protein in complex with host chemokines reveal clues to broad binding specificity. Structure, 23(7), 1199-1213. doi: 10.1016/j.str.2015.04.023
Journal - Research Article
Knapp, K. M., Zebisch, M., & Sträter, N. (2012). Crystallization and preliminary X-ray analysis of the open form of human ecto-5′-nucleotidase (CD73). Acta Crystallographica Section F, 68(12), 1545-1549. doi: 10.1107/s1744309112045447
Journal - Research Article
Knapp, K., Zebisch, M., Pippel, J., El-Tayeb, A., Müller, C. E., & Sträter, N. (2012). Crystal structure of the human ecto-5′-nucleotidase (CD73): Insights into the regulation of purinergic signaling. Structure, 20(12), 2161-2173. doi: 10.1016/j.str.2012.10.001
Journal - Research Article
Knapp, K., Naik, N., Ray, S., van Haaften, G., & Bicknell, L. S. (2023). Histones: Coming of age in Mendelian genetic disorders. Journal of Medical Genetics. Advance online publication. doi: 10.1136/jmg-2022-109085
Journal - Research Other
Knapp, K. M., Murray, J., Temple, I. K., & Bicknell, L. S. (2021). Successful pregnancies in an adult with Meier-Gorlin syndrome harboring biallelic CDT1 variants. American Journal of Medical Genetics Part A, 185A, 871-876. doi: 10.1002/ajmg.a.62016
Journal - Research Other
Knapp, K. M., Poke, G., Jenkins, D., Truter, W., & Bicknell, L. S. (2019). Expanding the phenotypic spectrum associated with DPF2: A new case report. American Journal of Medical Genetics Part A, 179A, 1637-1641. doi: 10.1002/ajmg.a.61262
Journal - Research Other
