Search Results - "Muurinen, Mari"

Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy by Göös, Helka, Fogarty, Christopher L., Sahu, Biswajyoti, Plagnol, Vincent, Rajamäki, Kristiina, Nurmi, Katariina, Liu, Xiaonan, Einarsdottir, Elisabet, Jouppila, Annukka, Pettersson, Tom, Vihinen, Helena, Krjutskov, Kaarel, Saavalainen, Päivi, Järvinen, Asko, Muurinen, Mari, Greco, Dario, Scala, Giovanni, Curtis, James, Nordström, Dan, Flaumenhaft, Robert, Vaarala, Outi, Kovanen, Panu E., Keskitalo, Salla, Ranki, Annamari, Kere, Juha, Lehto, Markku, Notarangelo, Luigi D., Nejentsev, Sergey, Eklund, Kari K., Varjosalo, Markku, Taipale, Jussi, Seppänen, Mikko R.J.

“…CCAAT enhancer–binding protein epsilon (C/EBPε) is a transcription factor involved in late myeloid lineage differentiation and cellular function. The only…”
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New gene discoveries in skeletal diseases with short stature by Costantini, Alice, Muurinen, Mari H, Mäkitie, Outi

“…In the last decade, the widespread use of massively parallel sequencing has considerably boosted the number of novel gene discoveries in monogenic skeletal…”
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A clinical and molecular characterization of a Pakistani family with multicentric osteolysis, nodulosis and arthropathy (MONA) syndrome by Ahmad, Safeer, Muurinen, Mari, Loid, Petra, Ali, Muhammad Zeeshan, Muzammal, Muhammad, Fatima, Sana, Khan, Jabbar, Khan, Muzammil Ahmad, Mäkitie, Outi

“…Multicentric osteolysis nodulosis and arthropathy (MONA) is a rare skeletal dysplasia characterized primarily by progressive osteolysis, particularly affecting…”
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Case report: A novel de novo IGF2 missense variant in a Finnish patient with Silver-Russell syndrome by Loid, Petra, Lipsanen-Nyman, Marita, Ala-Mello, Sirpa, Hannula-Jouppi, Katariina, Kere, Juha, Mäkitie, Outi, Muurinen, Mari

“…Silver-Russell syndrome (SRS, OMIM 180860) is a rare imprinting disorder characterized by intrauterine and postnatal growth restriction, feeding difficulties…”
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Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass by Muurinen, Mari, Taylan, Fulya, Tournis, Symeon, Eisfeldt, Jesper, Balanika, Alexia, Vastardis, Heleni, Ala‐Mello, Sirpa, Mäkitie, Outi, Costantini, Alice

“…ABSTRACT Mosaicism, a state in which an individual has two or more genetically distinct populations of cells in the body, can be difficult to detect because of…”
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Differentially methylated regions in maternal and paternal uniparental disomy for chromosome 7 by Hannula-Jouppi, Katariina, Muurinen, Mari, Lipsanen-Nyman, Marita, Reinius, Lovisa E, Ezer, Sini, Greco, Dario, Kere, Juha

“…DNA methylation is a hallmark of genomic imprinting and differentially methylated regions (DMRs) are found near and in imprinted genes. Imprinted genes are…”
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Altered Methylation of IGF2 Locus 20 Years after Preterm Birth at Very Low Birth Weight by Wehkalampi, Karoliina, Muurinen, Mari, Wirta, Sara Bruce, Hannula-Jouppi, Katariina, Hovi, Petteri, Järvenpää, Anna-Liisa, Eriksson, Johan G, Andersson, Sture, Kere, Juha, Kajantie, Eero

“…People born preterm at very low birth weight (VLBW, ≤1500g) have higher rates of risk factors for adult-onset diseases, including cardiovascular diseases and…”
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Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia by Reilly, Madeline Louise, Ain, Noor ul, Muurinen, Mari, Tata, Alice, Huber, Céline, Simon, Marleen, Ishaq, Tayyaba, Shaw, Nick, Rusanen, Salla, Pekkinen, Minna, Högler, Wolfgang, Knapen, Maarten F. C. M., Born, Myrthe, Saunier, Sophie, Naz, Sadaf, Cormier‐Daire, Valérie, Benmerah, Alexandre, Makitie, Outi

“…ABSTRACT Skeletal dysplasias comprise a large spectrum of mostly monogenic disorders affecting bone growth, patterning, and homeostasis, and ranging in…”
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Identification of IGLI1/I and IKIAA0825/I Variants in Two Families with Postaxial Polydactyly by Ahmad, Safeer, Ali, Muhammad Zeeshan, Muzammal, Muhammad, Khan, Amjad Ullah, Ikram, Muhammad, Muurinen, Mari, Hussain, Shabir, Loid, Petra, Khan, Muzammil Ahmad, Mäkitie, Outi

“…Polydactyly is a rare autosomal dominant or recessive appendicular patterning defect of the hands and feet, phenotypically characterized by the duplication of…”
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Mosaic deletions of known genes explain skeletal dysplasias with high and low bone mass by Muurinen, Mari, Taylan, Fulya, Tournis, Tournis, Eisfeldt, Jesper, Balanika, Alexia, Vastardis, Heleni, Ala-Mello, Sirpa, Mäkitie, Outi, Costantini, Alice

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Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly by Ahmad, Safeer, Ali, Muhammad Zeeshan, Muzammal, Muhammad, Khan, Amjad Ullah, Ikram, Muhammad, Muurinen, Mari, Hussain, Shabir, Loid, Petra, Khan, Muzammil Ahmad, Mäkitie, Outi

“…Polydactyly is a rare autosomal dominant or recessive appendicular patterning defect of the hands and feet, phenotypically characterized by the duplication of…”
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Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children by Muurinen, Mari, Hannula-Jouppi, Katariina, Reinius, Lovisa E., Söderhäll, Cilla, Merid, Simon Kebede, Bergström, Anna, Melén, Erik, Pershagen, Göran, Lipsanen-Nyman, Marita, Greco, Dario, Kere, Juha

“…Silver-Russell syndrome (SRS) is a growth retardation syndrome in which loss of methylation on chromosome 11p15 (11p15 LOM) and maternal uniparental disomy for…”
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Altered Methylation of IGF2 Locus 20 Years after Preterm Birth at Very Low Birth Weight: e67379 by Wehkalampi, Karoliina, Muurinen, Mari, Wirta, Sara Bruce, Hannula-Jouppi, Katariina, Hovi, Petteri, Jaervenpaeae, Anna-Liisa, Eriksson, Johan G, Andersson, Sture, Kere, Juha, Kajantie, Eero

“…Introduction People born preterm at very low birth weight (VLBW, less than or equal to 1500g) have higher rates of risk factors for adult-onset diseases,…”
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Case report: A novel de novo IGF2 missense variant in a Finnish patient with Silver-Russell syndrome by Loid, Petra, Lipsanen-Nyman, Marita, Ala-Mello, Sirpa, Hannula-Jouppi, Katariina, Kere, Juha, Mäkitie, Outi, Muurinen, Mari

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