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Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities (2020)
Journal Article
Schneeberger, P., von Elsner, L., Barker, E. L., Meinecke, P., Marquardt, I., Alawi, M., Steindl, K., Joset, P., Rauch, A., Zwijnenburg, P. J., Weiss, M. M., Merry, C. L., & Kutsche, K. (2020). Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities. American Journal of Human Genetics, 107(6), 1044-1061. https://doi.org/10.1016/j.ajhg.2020.10.007

Heparan sulfate belongs to the group of glycosaminoglycans (GAGs), highly sulfated linear polysaccharides. Heparan sulfate 2-O-sulfotransferase 1 (HS2ST1) is one of several specialized enzymes required for heparan sulfate synthesis and catalyzes the... Read More about Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities.

Preparation of a User-Defined Peptide Gel for Controlled 3D Culture Models of Cancer and Disease (2020)
Journal Article
Ashworth, J. C., Morgan, R. L., Lis-Slimak, K., Jones, S., Spence, K., Slater, C. E., Thompson, J. L., Grabowska, A. M., Clarke, R. B., Farnie, G., & Merry, C. L. R. (2020). Preparation of a User-Defined Peptide Gel for Controlled 3D Culture Models of Cancer and Disease. Journal of Visualized Experiments, 166, Article e61710. https://doi.org/10.3791/61710

There is a growing awareness that cells grown in 3D better model in vivo behavior than those grown in 2D. In this protocol, we describe a simple and tunable 3D hydrogel, suitable for culturing cells and tissue in a setting that matches their native e... Read More about Preparation of a User-Defined Peptide Gel for Controlled 3D Culture Models of Cancer and Disease.

3D hydrogels reveal medulloblastoma subgroup differences and identify extracellular matrix subtypes that predict patient outcome (2020)
Journal Article
Linke, F., Aldighieri, M., Lourdusamy, A., Grabowska, A. M., Stolnik, S., Kerr, I. D., Merry, C. L., & Coyle, B. (2021). 3D hydrogels reveal medulloblastoma subgroup differences and identify extracellular matrix subtypes that predict patient outcome. Journal of Pathology, 253(3), 326-338. https://doi.org/10.1002/path.5591

© 2020 The Authors. The Journal of Pathology published by John Wiley & Sons, Ltd. on behalf of The Pathological Society of Great Britain and Ireland. Medulloblastoma (MB) is the most common malignant brain tumour in children and is subdivided into... Read More about 3D hydrogels reveal medulloblastoma subgroup differences and identify extracellular matrix subtypes that predict patient outcome.