Results 1 to 14 of 14
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TypeTitleAuthor(s)YearViews
Lumbar disc degeneration is linked to a carbohydrate sulfotransferase 3 variant.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, D201339
 
Differentiation and progression of interzone cells as progenitors of articular chondrocytes in joint formaitonFeng, C; Chan, WCW; Mundlos, S; Hui, NH; Chan, D201256
 
Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locusSpielmann, 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, S201214
 
Identification of a functional variant in CHST3 associated with the susceptibility for lumbar disc degenerationSong, 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, WEI; Wang, NA; Leong, JCY; Luk, KDK; Yip, SP; Cherny, SS; Wang, JJ; Mundlos, S; Kelempisioti, A; Eskola, P J; Mannikko, M; Makela, P; Karppinen, J; Jarvelin, M R; O Reilly, P F; Kubo, M; Kimura, T; Kubo, T; Toyama, Y; Mizuta, H; Cheah, KSE; Tsunoda, T; Sham, PC; Ikegawa, S; Chan, D2012117
 
Role of IHH signaling in the progression of joint formation in digit developmentFeng, C; Stricker, S; Hu, J; Mundlos, S; Hui, NH; Chan, D201173
 
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosisKlopocki, 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, S2011181
 
NOA1 is an essential GTPase required for mitochondrial protein synthesisKolanczyk, 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, S2011142
 
Role of IHH signaling in the progression of joint formation in digit developmentFeng, C; Chan, D; Hu, J; Stricker, S; Mundlos, S201074
 
Receptor tyrosine kinase-like orphan receptor 2 (ROR2) and Indian hedgehog regulate digit outgrowth mediated by the phalanx-forming regionWitte, F; Chan, D; Economides, AN; Mundlos, S; Stricker, S2010161
 
A mutation in Ihh that causes digit abnormalities alters its signalling capacity and rangeGao, B; Hu, J; Stricker, S; Cheung, M; Ma, G; Law, KF; Witte, F; Briscoe, J; Mundlos, S; He, L; Cheah, KSE; Chan, D2009169
 
Molecular Basis for Gerodermia Osteodysplastica, a Prematured Aging DisorderChan, WL; Mundlos, S; Kamak, U; Cheah, KSE; Chan, D200888
 
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 hypochondrogenesisMundlos, S; Chan, D; Mcgill, J; Bateman, JF199697
 
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 matrixMundlos, S; Chan, D; Weng, YM; Sillence, DO; Cole, WG; Bateman, JF199683
 
A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilageChan, D; Cole, WG; Chow, CW; Mundlos, S; Bateman, JF199574
 
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