CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

Authors: Nafisa Nuzhat, Kristof Van Schil, Sandra Liakopoulos, Miriam Bauwens, Alfredo Dueñas Rey, Stephan Käseberg, Melanie Jäger, Jason R. Willer, Jennifer Winter, Hanh M. Truong, Nuria Gruartmoner, Mattias Van Heetvelde, Joachim Wolf, Robert Merget, Sabine Grasshoff-Derr, Jo Van Dorpe, Anne Hoorens, Heidi Stöhr, Luke Mansard, Anne-Françoise Roux, Thomas Langmann, Katharina Dannhausen, David Rosenkranz, Karl M. Wissing, Michel Van Lint, Heidi Rossmann, Friederike Häuser, Peter Nürnberg, Holger Thiele, Ulrich Zechner, Jillian N. Pearring, Elfride De Baere, Hanno J. Bolz

Source: The Journal of Clinical Investigation, Vol 133, Iss 8 (2023)

Subject Terms: Cell biology, Genetics, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1558-8238

Access URL: https://doaj.org/article/5751fc3eb5124e36990ef17731c43da6

Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss

Authors: Giulia Ascari, Nanna D. Rendtorff, Marieke De Bruyne, Julie De Zaeytijd, Michel Van Lint, Miriam Bauwens, Mattias Van Heetvelde, Gavin Arno, Julie Jacob, David Creytens, Jo Van Dorpe, Thalia Van Laethem, Toon Rosseel, Tim De Pooter, Peter De Rijk, Wouter De Coster, Björn Menten, Alfredo Dueñas Rey, Mojca Strazisar, Mette Bertelsen, Lisbeth Tranebjaerg, Elfride De Baere

Source: Frontiers in Cell and Developmental Biology, Vol 9 (2021)

Subject Terms: CEP78, inherited retinal disease, cone-rod dystrophy with hearing loss, long-read sequencing, structural variants, single-cell gene expression analysis, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2021.664317/full; https://doaj.org/toc/2296-634X

Access URL: https://doaj.org/article/483ae383a34a48e1a6bbe9032362f8b3

Central nervous system gadolinium accumulation in patients undergoing periodical contrast MRI screening for hereditary tumor syndromes

Authors: Evelynn Vergauwen, Anne-Marie Vanbinst, Carola Brussaard, Peter Janssens, Dieter De Clerck, Michel Van Lint, Anne C. Houtman, Olaf Michel, Kathelijn Keymolen, Bieke Lefevere, Susanne Bohler, Dirk Michielsen, Anna C. Jansen, Vera Van Velthoven, Sven Gläsker

Source: Hereditary Cancer in Clinical Practice, Vol 16, Iss 1, Pp 1-9 (2018)

Subject Terms: Von Hippel-Lindau disease, Tuberous Sclerosis Complex, Gadolinium accumulation, MRI screening, Familial tumor syndromes, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13053-017-0084-7; https://doaj.org/toc/1897-4287

Access URL: https://doaj.org/article/2b166d78134048589910c4a810875367

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