Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia
Prenen, Jean, Owsianik, Grzegorz, Voets, Thomas, Funari, Tara L, Nelson, Stanley F, Lachman, Ralph S, Merriman, Barry, Reyno, Soraya, Vaglio, Alicia, Cohn, Daniel H, Funari, Vincent A, Rock, Matthew J, Rimoin, David L, Nilius, Bernd, Nagai, Toshiro, Janssens, Annelies, Wilcox, William R, Quadrelli, Roberto, Ikegawa, Shiro
Published in Nature genetics (01.08.2008)
Published in Nature genetics (01.08.2008)
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Journal Article
Homotypic Fibrillin-1 Interactions in Microfibril Assembly
Marson, Andrew, Rock, Matthew J., Cain, Stuart A., Freeman, Lyle J., Morgan, Amanda, Mellody, Kieran, Shuttleworth, C. Adrian, Baldock, Clair, Kielty, Cay M.
Published in The Journal of biological chemistry (11.02.2005)
Published in The Journal of biological chemistry (11.02.2005)
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Journal Article
The Supramolecular Organization of Fibrillin-Rich Microfibrils
Baldock, Clair, Koster, Abraham J., Ziese, Ulrike, Rock, Matthew J., Sherratt, Michael J., Kadler, Karl E., Shuttleworth, C. Adrian, Kielty, Cay M.
Published in The Journal of cell biology (05.03.2001)
Published in The Journal of cell biology (05.03.2001)
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Journal Article
Molecular basis of elastic fiber formation. Critical interactions and a tropoelastin-fibrillin-1 cross-link
Rock, Matthew J, Cain, Stuart A, Freeman, Lyle J, Morgan, Amanda, Mellody, Kieran, Marson, Andrew, Shuttleworth, C Adrian, Weiss, Anthony S, Kielty, Cay M
Published in The Journal of biological chemistry (28.05.2004)
Published in The Journal of biological chemistry (28.05.2004)
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Journal Article
Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome
Farrington-Rock, Claire, Kirilova, Veneta, Dillard-Telm, Lisa, Borowsky, Alexander D., Chalk, Sara, Rock, Matthew J., Cohn, Daniel H., Krakow, Deborah
Published in Human molecular genetics (01.03.2008)
Published in Human molecular genetics (01.03.2008)
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Journal Article
Conformation-Sensitive Gel Electrophoresis for Rapid Detection of Single- Base Differences in Double-Stranded PCR Products and DNA Fragments: Evidence for Solvent-Induced Bends in DNA Heteroduplexes
Ganguly, Arupa, Rock, Matthew J., Prockop, Darwin J.
Published in Proceedings of the National Academy of Sciences - PNAS (01.11.1993)
Published in Proceedings of the National Academy of Sciences - PNAS (01.11.1993)
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Journal Article
Conference Proceeding
Mutation of the gene encoding fibrillin-2 results in syndactyly in mice
CHAUDHRY, Shazia S, GAZZARD, James, BALDOCK, Clair, DIXON, Jill, ROCK, Matthew J, SKINNER, Gail C, STEEL, Karen P, KIELTY, Cay M, DIXON, Michael J
Published in Human molecular genetics (01.04.2001)
Published in Human molecular genetics (01.04.2001)
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Journal Article
Molecular Basis of Elastic Fiber Formation
Rock, Matthew J., Cain, Stuart A., Freeman, Lyle J., Morgan, Amanda, Mellody, Kieran, Marson, Andrew, Shuttleworth, C. Adrian, Weiss, Anthony S., Kielty, Cay M.
Published in The Journal of biological chemistry (01.05.2004)
Published in The Journal of biological chemistry (01.05.2004)
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Journal Article
Processing and assembly of fibrillin‐1
Rock, Matthew J., Shuttleworth, C. Adrian, Kielty, Cay M.
Published in International journal of experimental pathology (01.02.2000)
Published in International journal of experimental pathology (01.02.2000)
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Journal Article
Fibrillin degradation by matrix metalloproteinases: implications for connective tissue remodelling
Ashworth, J L, Murphy, G, Rock, M J, Sherratt, M J, Shapiro, S D, Shuttleworth, C A, Kielty, C M
Published in Biochemical journal (15.05.1999)
Published in Biochemical journal (15.05.1999)
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Journal Article
Disruption of the FInb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome
FARRINGTON-ROCK, Claire, KIRILOVA, Veneta, DILLARD-TELM, Lisa, BOROWSKY, Alexander D, CHALK, Sara, ROCK, Matthew J, COHN, Daniel H, KRAKOW, Deborah
Published in Human molecular genetics (2008)
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Published in Human molecular genetics (2008)
Journal Article