De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction
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.
Published in American journal of medical genetics. Part A (01.10.2010)
Published in American journal of medical genetics. Part A (01.10.2010)
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A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome
Baker, Stuart, Booth, Carol, Fillman, Corrine, Shapiro, Michael, Blair, Michael P., Hyland, James C., Ala-Kokko, Leena
Published in American journal of medical genetics. Part A (01.07.2011)
Published in American journal of medical genetics. Part A (01.07.2011)
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A novel mutation in the matrix metallopeptidase 2 coding gene associated with intrafamilial variability of multicentric osteolysis, nodulosis, and arthropathy
Kröger, Liisa, Löppönen, Tuija, Ala‐Kokko, Leena, Kröger, Heikki, Jauhonen, Hanna‐Mari, Lehti, Kaisa, Jääskeläinen, Jarmo
Published in Molecular genetics & genomic medicine (01.08.2019)
Published in Molecular genetics & genomic medicine (01.08.2019)
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Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2
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.
Published in American journal of medical genetics. Part A (01.02.2012)
Published in American journal of medical genetics. Part A (01.02.2012)
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Candidate Cell and Matrix Interaction Domains on the Collagen Fibril, the Predominant Protein of Vertebrates
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
Published in The Journal of biological chemistry (25.07.2008)
Published in The Journal of biological chemistry (25.07.2008)
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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
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
Published in PLoS genetics (21.07.2016)
Published in PLoS genetics (21.07.2016)
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Whole exome sequencing in Finnish families identifies new candidate genes for osteoarthritis
Skarp, Sini, Kämäräinen, Olli-Pekka, Wei, Gong-Hong, Jakkula, Eveliina, Kiviranta, Ilkka, Kröger, Heikki, Auvinen, Juha, Lehenkari, Petri, Ala-Kokko, Leena, Männikkö, Minna
Published in PloS one (29.08.2018)
Published in PloS one (29.08.2018)
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Mapping the Ligand-binding Sites and Disease-associated Mutations on the Most Abundant Protein in the Human, Type I Collagen
Di Lullo, Gloria A., Sweeney, Shawn M., Körkkö, Jarmo, Ala-Kokko, Leena, San Antonio, James D.
Published in The Journal of biological chemistry (08.02.2002)
Published in The Journal of biological chemistry (08.02.2002)
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Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity
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
Published in BMC medical genetics (10.04.2012)
Published in BMC medical genetics (10.04.2012)
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Update of the UMD‐FBN1 mutation database and creation of an FBN1 polymorphism database
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
Published in Human mutation (01.09.2003)
Published in Human mutation (01.09.2003)
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Oto‐spondylo‐megaepiphyseal dysplasia (OSMED): Clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene
Temtamy, Samia A., Männikkö, Minna, Abdel‐Salam, Ghada M.H., Hassan, Nihal A., Ala‐Kokko, Leena, Afifi, Hanan H.
Published in American journal of medical genetics. Part A (01.06.2006)
Published in American journal of medical genetics. Part A (01.06.2006)
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Heterozygous Mutations in the LDL Receptor‐Related Protein 5 (LRP5) Gene Are Associated With Primary Osteoporosis in Children
Hartikka, Heini, Mäkitie, Outi, Männikkö, Minna, Doria, Andrea S, Daneman, Alan, Cole, William G, Ala‐Kokko, Leena, Sochett, Etienne B
Published in Journal of bone and mineral research (01.05.2005)
Published in Journal of bone and mineral research (01.05.2005)
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Genetic susceptibility of intervertebral disc degeneration among young Finnish adults
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
Published in BMC genetics (22.11.2011)
Published in BMC genetics (22.11.2011)
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Altered Integration of Matrilin-3 into Cartilage Extracellular Matrix in the Absence of Collagen IX
Budde, Bastian, Blumbach, Katrin, Ylöstalo, Joni, Zaucke, Frank, Ehlen, Harald W A, Wagener, Raimund, Ala-Kokko, Leena, Paulsson, Mats, Bruckner, Peter, Grässel, Susanne
Published in Molecular and Cellular Biology (01.12.2005)
Published in Molecular and Cellular Biology (01.12.2005)
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Genetic factors are associated with modic changes in endplates of lumbar vertebral bodies
Karppinen, Jaro, Daavittila, Iita, Solovieva, Svetlana, Kuisma, Mari, Taimela, Simo, Natri, Antero, Haapea, Marianne, Korpelainen, Raija, Niinimäki, Jaakko, Tervonen, Osmo, Ala-Kokko, Leena, Männikkö, Minna
Published in Spine (Philadelphia, Pa. 1976) (15.05.2008)
Published in Spine (Philadelphia, Pa. 1976) (15.05.2008)
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A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders
Gensure, Robert C, Maekitie, Outi, Barclay, Catherine, Chan, Catherine, DePalma, Steven R, Bastepe, Murat, Abuzahra, Hilal, Couper, Richard, Mundlos, Stefan, Sillence, David, Kokko, Leena Ala, Seidman, Jonathan G, Cole, William G, Jueppner, Harald
Published in The Journal of clinical investigation (01.05.2005)
Published in The Journal of clinical investigation (01.05.2005)
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A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders
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
Published in The Journal of clinical investigation (01.05.2005)
Published in The Journal of clinical investigation (01.05.2005)
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Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome
McAlinden, Audrey, Majava, Marja, Bishop, Paul N, Perveen, Rahat, Black, Graeme CM, Pierpont, Mary Ella, Ala-Kokko, Leena, Männikkö, Minna
Published in Human mutation (2008)
Published in Human mutation (2008)
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The TRP2 allele of COL9A2 is an age-dependent risk factor for the development and severity of intervertebral disc degeneration
Jim, Jeffrey J T, Noponen-Hietala, Noora, Cheung, Kenneth M C, Ott, Jürg, Karppinen, Jaro, Sahraravand, Ahmad, Luk, Keith D K, Yip, Shea-Ping, Sham, Pak C, Song, You-Qiang, Leong, John C Y, Cheah, Kathryn S E, Ala-Kokko, Leena, Chan, Danny
Published in Spine (Philadelphia, Pa. 1976) (15.12.2005)
Published in Spine (Philadelphia, Pa. 1976) (15.12.2005)
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