PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants
Kämpe, A. J., Costantini, A., Mäkitie, R. E., Jäntti, N., Valta, H., Mäyränpää, M., Kröger, H., Pekkinen, M., Taylan, F., Jiao, H., Mäkitie, O.
Published in Osteoporosis international (01.10.2017)
Published in Osteoporosis international (01.10.2017)
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Journal Article
A Novel IFITM5 Variant Associated with Phenotype of Osteoporosis with Calvarial Doughnut Lesions: A Case Report
Mäkitie, R. E., Pekkinen, M., Morisada, N., Kobayashi, D., Yonezawa, Y., Nishimura, G., Ikegawa, S., Mäkitie, O.
Published in Calcified tissue international (01.12.2021)
Published in Calcified tissue international (01.12.2021)
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Journal Article
Defective WNT signaling may protect from articular cartilage deterioration – a quantitative MRI study on subjects with a heterozygous WNT1 mutation
Lehtovirta, S., Mäkitie, R.E., Casula, V., Haapea, M., Niinimäki, J., Niinimäki, T., Peuna, A., Lammentausta, E., Mäkitie, O., Nieminen, M.T.
Published in Osteoarthritis and cartilage (01.11.2019)
Published in Osteoarthritis and cartilage (01.11.2019)
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Journal Article
An ARHGAP25 variant links aberrant Rac1 function to early‐onset skeletal fragility
Mäkitie, Riikka E., Henning, Petra, Jiu, Yaming, Kämpe, Anders, Kogan, Konstantin, Costantini, Alice, Välimäki, Ville‐Valtteri, Medina‐Gomez, Carolina, Pekkinen, Minna, Salusky, Isidro B., Schalin‐Jäntti, Camilla, Haanpää, Maria K., Rivadeneira, Fernando, Bassett, John H. Duncan, Williams, Graham R., Lerner, Ulf H., Pereira, Renata C., Lappalainen, Pekka, Mäkitie, Outi
Published in JBMR plus (01.07.2021)
Published in JBMR plus (01.07.2021)
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Journal Article
Bone material properties and response to teriparatide in osteoporosis due to WNT1 and PLS3 mutations
Fratzl-Zelman, Nadja, Wesseling-Perry, Katherine, Mäkitie, Riikka E., Blouin, Stéphane, Hartmann, Markus A., Zwerina, Jochen, Välimäki, Ville-Valtteri, Laine, Christine M., Välimäki, Matti J., Pereira, Renata C., Mäkitie, Outi
Published in Bone (New York, N.Y.) (01.05.2021)
Published in Bone (New York, N.Y.) (01.05.2021)
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Journal Article
Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults
Mäkitie, Riikka E, Haanpää, Maria, Valta, Helena, Pekkinen, Minna, Laine, Christine M, Lehesjoki, Anna‐Elina, Schalin‐Jäntti, Camilla, Mäkitie, Outi
Published in Journal of bone and mineral research (01.09.2016)
Published in Journal of bone and mineral research (01.09.2016)
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Journal Article
Osteocyte Protein Expression Is Altered in Low-Turnover Osteoporosis Caused by Mutations in WNT1 and PLS3
Wesseling-Perry, Katherine, Mäkitie, Riikka E., Välimäki, Ville-Valtteri, Laine, Tero, Laine, Christine M., Välimäki, Matti J., Pereira, Renata C., Mäkitie, Outi
Published in The journal of clinical endocrinology and metabolism (01.07.2017)
Published in The journal of clinical endocrinology and metabolism (01.07.2017)
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Journal Article
Abnormal Bone Tissue Organization and Osteocyte Lacunocanalicular Network in Early‐Onset Osteoporosis Due to SGMS2 Mutations
Mäkitie, Riikka E., Blouin, Stéphane, Välimäki, Ville‐Valtteri, Pihlström, Sandra, Määttä, Kirsi, Pekkinen, Minna, Fratzl‐Zelman, Nadja, Mäkitie, Outi, Hartmann, Markus A.
Published in JBMR plus (01.11.2021)
Published in JBMR plus (01.11.2021)
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Journal Article
Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2
Pekkinen, Minna, Terhal, Paulien A, Botto, Lorenzo D, Henning, Petra, Mäkitie, Riikka E, Roschger, Paul, Jain, Amrita, Kol, Matthijs, Kjellberg, Matti A, Paschalis, Eleftherios P, van Gassen, Koen, Murray, Mary, Bayrak-Toydemir, Pinar, Magnusson, Maria K, Jans, Judith, Kausar, Mehran, Carey, John C, Somerharju, Pentti, Lerner, Ulf H, Olkkonen, Vesa M, Klaushofer, Klaus, Holthuis, Joost Cm, Mäkitie, Outi
Published in JCI insight (04.04.2019)
Published in JCI insight (04.04.2019)
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Journal Article
Early‐Onset Osteoporosis: Rare Monogenic Forms Elucidate the Complexity of Disease Pathogenesis Beyond Type I Collagen
Costantini, Alice, Mäkitie, Riikka E., Hartmann, Markus A., Fratzl‐Zelman, Nadja, Zillikens, M. Carola, Kornak, Uwe, Søe, Kent, Mäkitie, Outi
Published in Journal of bone and mineral research (01.09.2022)
Published in Journal of bone and mineral research (01.09.2022)
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Journal Article
Unique, Gender‐Dependent Serum microRNA Profile in PLS3 Gene‐Related Osteoporosis
Mäkitie, Riikka E, Hackl, Matthias, Weigl, Moritz, Frischer, Amelie, Kämpe, Anders, Costantini, Alice, Grillari, Johannes, Mäkitie, Outi
Published in Journal of bone and mineral research (01.10.2020)
Published in Journal of bone and mineral research (01.10.2020)
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Journal Article
New Insights Into Monogenic Causes of Osteoporosis
Mäkitie, Riikka E, Costantini, Alice, Kämpe, Anders, Alm, Jessica J, Mäkitie, Outi
Published in Frontiers in endocrinology (Lausanne) (2019)
Published in Frontiers in endocrinology (Lausanne) (2019)
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Journal Article
Increased Burden of Common Risk Alleles in Children With a Significant Fracture History
Manousaki, Despoina, Kämpe, Anders, Forgetta, Vincenzo, Makitie, Riikka E, Bardai, Ghalib, Belisle, Alexandre, Li, Rui, Andersson, Sture, Makitie, Outi, Rauch, Frank, Richards, J Brent
Published in Journal of bone and mineral research (01.05.2020)
Published in Journal of bone and mineral research (01.05.2020)
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Journal Article
Recessive multiple epiphyseal dysplasia – Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes
Kausar, Mehran, Mäkitie, Riikka E., Toiviainen-Salo, Sanna, Ignatius, Jaakko, Anees, Mariam, Mäkitie, Outi
Published in European journal of medical genetics (01.11.2019)
Published in European journal of medical genetics (01.11.2019)
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Journal Article
PLS3 Mutations Cause Severe Age and Sex-Related Spinal Pathology
Mäkitie, Riikka E, Niinimäki, Tuukka, Suo-Palosaari, Maria, Kämpe, Anders, Costantini, Alice, Toiviainen-Salo, Sanna, Niinimäki, Jaakko, Mäkitie, Outi
Published in Frontiers in endocrinology (Lausanne) (23.06.2020)
Published in Frontiers in endocrinology (Lausanne) (23.06.2020)
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Journal Article