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Showing results 1 to 17 of 17

	Title	Author(s)	Issue Date	Views
	Aberrant phase separation and nucleolar dysfunction in rare genetic diseases Journal:Nature	Mensah, MA Niskanen, H Magalhaes, AP Basu, S Kircher, M Sczakiel, HL Reiter, AMV Elsner, J Meinecke, P Biskup, S Chung, BHY Dombrowsky, G Eckmann=Schoiz, C Hitz, MP Hoischen, A Holterhus, PM Hulsemann, W Kahrizi, K Kalscheuer, VM Kan, SYA Krumbiegel, M Kurth, I Leubner, J Longardt, AC Moritz, JD Najmabadi, H Skipalova, K Snijders, BL Tzschach, A Wiedersberg, E Zenker, M Garcia-Cabau, C Buschow, R Salvatella, X Kraushar, ML Mundlos, S Callebe, A Spielmann, M Horn, D Hnisz, D	2023
	A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage Journal:Journal of Biological Chemistry	Chan, D Cole, WG Chow, CW Mundlos, S Bateman, JF	1995	132
	Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis Journal:American Journal of Human Genetics	Klopocki, E Lohan, S Brancati, F Koll, R Brehm, A Seemann, P Dathe, K Stricker, S Hecht, J Bosse, K Betz, RC Garaci, FG Dallapiccola, B Jain, M Muenke, M Ng, VCW Chan, W Chan, D Mundlos, S	2011
	Differentiation and progression of interzone cells as progenitors of articular chondrocytes in joint formaiton Proceeding/Conference:Research Postgraduate Symposium, RPS 2012	Feng, C Chan, WCW Mundlos, S Hui, NH Chan, D	2012
	Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus Journal:American Journal of Human Genetics	Spielmann, M Brancati, F Krawitz, PM Robinson, PN Ibrahim, DM Franke, M Hecht, J Lohan, S Dathe, K Nardone, AM Ferrari, P Landi, A Wittler, L Timmermann, B Chan, D Mennen, U Klopocki, E Mundlos, S	2012	88
	Identification of a functional variant in CHST3 associated with the susceptibility for lumbar disc degeneration Proceeding/Conference:Symposium of the Hong Kong Society for Developmental Biology, HKSDB 2012	Song, Y Karasugi, T Cheung, KMC Chiba, K Ho, DWH Miyake, A Kao, PYP Sze, KL Yee, AFY Takahashi, A Kawaguchi, Y Mikami, Y Matsumoto, M Togawa, D Kanayama, M Shi, D Dai, J Jiang, Q Wu, C Tian, W Wang, NA Leong, JCY Luk, KDK Yip, SP Cherny, SS Wang, JJ Mundlos, S Kelempisioti, A Eskola, PJ Mannikko, M Makela, P Karppinen, J Jarvelin, MR O Reilly, PF Kubo, M Kimura, T Kubo, T Toyama, Y Mizuta, H Cheah, KSE Tsunoda, T Sham, PC Ikegawa, S Chan, D	2012	105
	Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica Journal:PLoS Genetics	Chan, WL Steiner, M Witkos, T Egerer, J Busse, B Mizumoto, S Pestka, JM Zhang, H Hausser, I Khayal, LA Ott, C Kolanczyk, M Willie, B Schinke, T Paganini, C Rossi, A Sugahara, K Amling, M Knaus, P Chan, D Lowe, M Mundlos, S Kornak, U	2018
	Lgr5 and Col22a1 Mark Progenitor Cells in the Lineage toward Juvenile Articular Chondrocytes Journal:Stem Cell Reports	Chen, F Chan, WCW Lam, Y Wang, X Chen, P Niu, B Ng, VCW Yeo, JC Stricker, S Cheah, KSE Koch, M Mundlos, S Ng, HH Chan, D	2019	70
	Lumbar disc degeneration is linked to a carbohydrate sulfotransferase 3 variant. Journal:Journal of Clinical Investigation	Song, Y Karasugi, T Cheung, KMC Chiba, K Ho, DWH Miyake, A Kao, PYP Sze, KL Yee, FYA Takahashi, A Kawaguchi, Y Mikami, Y Matsumoto, M Togawa, D Kanayama, M Shi, D Dai, J Jiang, Q Wu, C Tian, W Wang, N Leong, JCY Luk, KDK Yip, SP Cherny, SS Wang, JJ Mundlos, S Kelempisioti, A Eskola, PJ Mannikko, M Makela, P Karppinen, J Jarvelin, MR O'Reilly, PF Kubo, M Kimura, T Kubo, T Toyoma, Y Mizuta, H Cheah, KSE Tsunoda, T Sham, PC Ikegawa, S Chan, D	2013	154
	Molecular Basis for Gerodermia Osteodysplastica, a Prematured Aging Disorder Proceeding/Conference:Research Postgraduate Symposium, RPS 2008	Chan, WL Mundlos, S Kamak, U Cheah, KSE Chan, D	2008	47
	Multiexon deletions in the type I collagen COL1A2 gene in osteogenesis imperfecta type IB. Molecules containing the shortened α2(I) chains show differential incorporation into the bone and skin extracellular matrix Journal:Journal of Biological Chemistry	Mundlos, S Chan, D Weng, YM Sillence, DO Cole, WG Bateman, JF	1996
	A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range Journal:Nature	Gao, B Hu, J Stricker, S Cheung, M Ma, G Law, KF Witte, F Briscoe, J Mundlos, S He, L Cheah, KSE Chan, D	2009	282
	NOA1 is an essential GTPase required for mitochondrial protein synthesis Journal:Molecular Biology of the Cell	Kolanczyk, M Pech, M Zemojtel, T Yamamoto, H Mikula, I Calvaruso, MA Van Den Brand, M Richter, R Fischer, B Ritz, A Kossler, N Thurisch, B Spoerle, R Smeitink, J Kornak, U Chan, D Vingron, M Martasek, P Lightowlers, RN Nijtmans, L Schuelke, M Nierhaus, KH Mundlos, S	2011	215
	Receptor tyrosine kinase-like orphan receptor 2 (ROR2) and Indian hedgehog regulate digit outgrowth mediated by the phalanx-forming region Journal:Proceedings of the National Academy of Sciences of the United States of America	Witte, F Chan, D Economides, AN Mundlos, S Stricker, S	2010	252
	Role of IHH signaling in the progression of joint formation in digit development Proceeding/Conference:Research Postgraduate Symposium, RPS 2011	Feng, C Stricker, S Hu, J Mundlos, S Hui, NH Chan, D	2011	89
	Role of IHH signaling in the progression of joint formation in digit development Proceeding/Conference:Research Postgraduate Symposium, RPS 2010	Feng, C Chan, D Hu, J Stricker, S Mundlos, S	2010	87
	An α1(II) Gly913 to Cys substitution prevents the matrix incorporation of type II collagen which is replaced with type I and III collagens in cartilage from a patient with hypochondrogenesis Journal:American Journal of Medical Genetics - Seminars in Medical Genetics	Mundlos, S Chan, D Mcgill, J Bateman, JF	1996	152

Showing results 1 to 17 of 17