De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction von Milewicz, Dianna M., Østergaard, John R., Ala-Kokko, Leena M., Khan, Nadia, Grange, Dorothy K., Mendoza-Londono, Roberto, Bradley, Timothy J., Olney, Ann Haskins, Adès, Lesley, Maher, Joseph F., Guo, Dongchuan, Buja, L. Maximilian, Kim, Dong, Hyland, James C., Regalado, Ellen S.

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A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome von Baker, Stuart, Booth, Carol, Fillman, Corrine, Shapiro, Michael, Blair, Michael P., Hyland, James C., Ala-Kokko, Leena

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A novel mutation in the matrix metallopeptidase 2 coding gene associated with intrafamilial variability of multicentric osteolysis, nodulosis, and arthropathy von Kröger, Liisa, Löppönen, Tuija, Ala‐Kokko, Leena, Kröger, Heikki, Jauhonen, Hanna‐Mari, Lehti, Kaisa, Jääskeläinen, Jarmo

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Candidate Cell and Matrix Interaction Domains on the Collagen Fibril, the Predominant Protein of Vertebrates von Sweeney, Shawn M., Orgel, Joseph P., Fertala, Andrzej, McAuliffe, Jon D., Turner, Kevin R., Di Lullo, Gloria A., Chen, Steven, Antipova, Olga, Perumal, Shiamalee, Ala-Kokko, Leena, Forlino, Antonella, Cabral, Wayne A., Barnes, Aileen M., Marini, Joan C., Antonio, James D. San

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Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2 von Tompson, Stuart W., Faqeih, Eissa Ali, Ala-Kokko, Leena, Hecht, Jacqueline T., Miki, Rika, Funari, Tara, Funari, Vincent A., Nevarez, Lisette, Krakow, Deborah, Cohn, Daniel H.

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Mapping the Ligand-binding Sites and Disease-associated Mutations on the Most Abundant Protein in the Human, Type I Collagen von Di Lullo, Gloria A., Sweeney, Shawn M., Körkkö, Jarmo, Ala-Kokko, Leena, San Antonio, James D.

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Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta von Cabral, Wayne A, Ishikawa, Masaki, Garten, Matthias, Makareeva, Elena N, Sargent, Brandi M, Weis, MaryAnn, Barnes, Aileen M, Webb, Emma A, Shaw, Nicholas J, Ala-Kokko, Leena, Lacbawan, Felicitas L, Högler, Wolfgang, Leikin, Sergey, Blank, Paul S, Zimmerberg, Joshua, Eyre, David R, Yamada, Yoshihiko, Marini, Joan C

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Whole exome sequencing in Finnish families identifies new candidate genes for osteoarthritis von Skarp, Sini, Kämäräinen, Olli-Pekka, Wei, Gong-Hong, Jakkula, Eveliina, Kiviranta, Ilkka, Kröger, Heikki, Auvinen, Juha, Lehenkari, Petri, Ala-Kokko, Leena, Männikkö, Minna

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Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity von Korvala, Johanna, Jüppner, Harald, Mäkitie, Outi, Sochett, Etienne, Schnabel, Dirk, Mora, Stefano, Bartels, Cynthia F, Warman, Matthew L, Deraska, Donald, Cole, William G, Hartikka, Heini, Ala-Kokko, Leena, Männikkö, Minna

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A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome von Vuoristo, Mirka Marjanna, Pappas, John Georgios, Jansen, Valerie, Ala-Kokko, Leena

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Heterozygous Mutations in the LDL Receptor‐Related Protein 5 (LRP5) Gene Are Associated With Primary Osteoporosis in Children von Hartikka, Heini, Mäkitie, Outi, Männikkö, Minna, Doria, Andrea S, Daneman, Alan, Cole, William G, Ala‐Kokko, Leena, Sochett, Etienne B

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Update of the UMD‐FBN1 mutation database and creation of an FBN1 polymorphism database von Collod‐Béroud, Gwenaëlle, Le Bourdelles, Saga, Ades, Lesley, Ala‐Kokko, Leena, Booms, Patrick, Boxer, Maureen, Child, Anne, Comeglio, Paolo, De Paepe, Anne, Hyland, James C., Holman, Katerine, Kaitila, Ilkka, Loeys, Bart, Matyas, Gabor, Nuytinck, Lieve, Peltonen, Leena, Rantamaki, Terhi, Robinson, Peter, Steinmann, Beat, Junien, Claudine, Béroud, Christophe, Boileau, Catherine

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Altered Integration of Matrilin-3 into Cartilage Extracellular Matrix in the Absence of Collagen IX von Budde, Bastian, Blumbach, Katrin, Ylöstalo, Joni, Zaucke, Frank, Ehlen, Harald W A, Wagener, Raimund, Ala-Kokko, Leena, Paulsson, Mats, Bruckner, Peter, Grässel, Susanne

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Genetic susceptibility of intervertebral disc degeneration among young Finnish adults von Kelempisioti, Anthi, Eskola, Pasi J, Okuloff, Annaleena, Karjalainen, Ulla, Takatalo, Jani, Daavittila, Iita, Niinimäki, Jaakko, Sequeiros, Roberto B, Tervonen, Osmo, Solovieva, Svetlana, Kao, Patrick Y P, Song, You-Qiang, Cheung, Kenneth M C, Chan, Danny, Ala-Kokko, Leena, Järvelin, Marjo-Riitta, Karppinen, Jaro, Männikkö, Minna

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A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders von Gensure, Robert C, Mäkitie, Outi, Barclay, Catherine, Chan, Catherine, Depalma, Steven R, Bastepe, Murat, Abuzahra, Hilal, Couper, Richard, Mundlos, Stefan, Sillence, David, Ala Kokko, Leena, Seidman, Jonathan G, Cole, William G, Jüppner, Harald

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The TRP2 allele of COL9A2 is an age-dependent risk factor for the development and severity of intervertebral disc degeneration von JIM, Jeffrey J. T, NOPONEN-HIETALA, Noora, LEONG, John C. Y, CHEAH, Kathryn S. E, ALA-KOKKO, Leena, CHAN, Danny, CHEUNG, Kenneth M. C, OTT, Jürg, KARPPINEN, Jaro, SAHRARAVAND, Ahmad, LUK, Keith D. K, YIP, Shea-Ping, SHAM, Pak C, SONG, You-Qiang

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Mutations in Cartilage Oligomeric Matrix Protein Causing Pseudoachondroplasia and Multiple Epiphyseal Dysplasia Affect Binding of Calcium and Collagen I, II, and IX von Thur, Jochen, Rosenberg, Krisztina, Nitsche, D. Patric, Pihlajamaa, Tero, Ala-Kokko, Leena, Heinegård, Dick, Paulsson, Mats, Maurer, Patrik

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Genetic Factors Are Associated With Modic Changes in Endplates of Lumbar Vertebral Bodies von KARPPINEN, Jaro, DAAVITTILA, Iita, ALA-KOKKO, Leena, MÄNNIKKÖ, Minna, SOLOVIEVA, Svetlana, KUISMA, Mari, TAIMELA, Simo, NATRI, Antero, HAAPEA, Marianne, KORPELAINEN, Raija, NIINIMAKI, Jaakko, TERVONEN, Osmo

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Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome von McAlinden, Audrey, Majava, Marja, Bishop, Paul N, Perveen, Rahat, Black, Graeme CM, Pierpont, Mary Ella, Ala-Kokko, Leena, Männikkö, Minna

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Novel mutations in the small leucine-rich repeat protein/proteoglycan (SLRP) genes in high myopia von Majava, Marja, Bishop, Paul N., Hägg, Pasi, Scott, Paul G., Rice, Aine, Inglehearn, Chris, Hammond, Christopher J., Spector, Tim D., Ala-Kokko, Leena, Männikkö, Minna

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