A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment.

Autor: Mette Nyegaard, Nanna D Rendtorff, Morten S Nielsen, Thomas J Corydon, Ditte Demontis, Anna Starnawska, Anne Hedemand, Annalisa Buniello, Francesco Niola, Michael T Overgaard, Suzanne M Leal, Wasim Ahmad, Friedrik P Wikman, Kirsten B Petersen, Dorthe G Crüger, Jaap Oostrik, Hannie Kremer, Niels Tommerup, Morten Frödin, Karen P Steel, Lisbeth Tranebjærg, Anders D Børglum

Publikováno v: PLoS Genetics, Vol 11, Iss 7, p e1005386 (2015)

Nonsyndromic hearing impairment (NSHI) is a highly heterogeneous condition with more than eighty known causative genes. However, in the clinical setting, a large number of NSHI families have unexplained etiology, suggesting that there are many more g

Externí odkaz: https://doaj.org/article/c3cde509dda1488686ad20653467c3ea

INDEL detection, the ‘Achilles heel’ of precise genome editing: a survey of methods for accurate profiling of gene editing induced indels

Autor: Yiyuan Niu, Hans H. Wandall, Ida Elisabeth Johansen, Morten Frödin, Christopher Aled Chamberlain, Eric P. Bennett, Özcan Met, Bent O. Petersen, Zhang Yang

Publikováno v: Nucleic Acids Research
Bennett, E P, Petersen, B L, Johansen, I E, Niu, Y, Yang, Z, Chamberlain, C A, Met, Ö, Wandall, H H & Frödin, M 2020, ' INDEL detection, the 'Achilles heel' of precise genome editing : a survey of methods for accurate profiling of gene editing induced indels ', Nucleic Acids Research, vol. 48, no. 21, pp. 11958-11981 . https://doi.org/10.1093/nar/gkaa975

Advances in genome editing technologies have enabled manipulation of genomes at the single base level. These technologies are based on programmable nucleases (PNs) that include meganucleases, zinc-finger nucleases (ZFNs), transcription activator-like

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1b46849f7310242d028c16e6aa7a427
https://doi.org/10.1093/nar/gkaa975

Multiparametric and accurate functional analysis of genetic sequence variants using CRISPR-Select

Autor: Yiyuan Niu, Catarina A. Ferreira Azevedo, Xin Li, Elahe Kamali, Ole Haagen Nielsen, Claus Storgaard Sørensen, Morten Frödin

Publikováno v: Niu, Y, Azevedo, C A F, Li, X, Kamali, E, Nielsen, O H, Sørensen, C S & Frödin, M 2022, ' Multiparametric and accurate functional analysis of genetic sequence variants using CRISPR-Select ', Nature Genetics, vol. 54 . https://doi.org/10.1038/s41588-022-01224-7
Nature Genetics

Determining the functional role of thousands of genetic sequence variants (mutations) associated with genetic diseases is a major challenge. Here we present clustered regularly interspaced short palindromic repeat (CRISPR)-SelectTIME, CRISPR-SelectSP

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc6a533e3b1f731f7476b06c300e57b4
https://curis.ku.dk/ws/files/328445052/s41588_022_01224_7.pdf

p190 RhoGAP promotes contact inhibition in epithelial cells by repressing YAP activity

Autor: Steen H. Hansen, Clemens P. Köllmann, Scott R. Frank, Morten Frödin, Raffaele A. Calogero, Lihua Zou, Giorgio G. Galli, Phi Luong, Gad Getz, Andre Bernards

Publikováno v: Frank, S R, Köllmann, C P, Luong, P, Galli, G G, Zou, L, Bernards, A, Getz, G, Calogero, R A, Frödin, M & Hansen, S H 2018, ' p190 RhoGAP promotes contact inhibition in epithelial cells by repressing YAP activity ', The Journal of Cell Biology, vol. 217, no. 9, pp. 3183-3201 . https://doi.org/10.1083/jcb.201710058

ARHGAP35 encoding p190A RhoGAP is a cancer-associated gene with a mutation spectrum suggestive of a tumor-suppressor function. In this study, we demonstrate that loss of heterozygosity for ARHGAP35 occurs in human tumors. We sought to identify tumor-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::449a697a270f9699b2b0ac06b46462c4
https://doi.org/10.1083/jcb.201710058

Genome editing using FACS enrichment of nuclease-expressing cells and indel detection by amplicon analysis

Autor: Lindsey A. Lonowski, Anjum Riaz, Steen H. Hansen, Hans H. Wandall, Katarzyna Duda, Eric P. Bennett, Elke A. Ober, Morten Frödin, Henrik Clausen, Yoshiki Narimatsu, Zhang Yang, Francesco Niola, Catherine E Delay

Publikováno v: Nat Protoc

This protocol describes methods for increasing and evaluating the efficiency of genome editing based on the CRISPR-Cas9 (clustered regularly interspaced short palindromic repeats-CRISPR-associated 9) system, transcription activator-like effector nucl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::474ec6245c1df4aa3f16a194f227df61
https://doi.org/10.1038/nprot.2016.165