Search Results - "Micha, Dimitra"

Collagen transport and related pathways in Osteogenesis Imperfecta by Claeys, Lauria, Storoni, Silvia, Eekhoff, Marelise, Elting, Mariet, Wisse, Lisanne, Pals, Gerard, Bravenboer, Nathalie, Maugeri, Alessandra, Micha, Dimitra

“…Osteogenesis Imperfecta (OI) comprises a heterogeneous group of patients who share bone fragility and deformities as the main characteristics, albeit with…”
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Impaired smooth muscle cell contractility as a novel concept of abdominal aortic aneurysm pathophysiology by Bogunovic, Natalija, Meekel, Jorn P., Micha, Dimitra, Blankensteijn, Jan D., Hordijk, Peter L., Yeung, Kak K.

“…Ruptured abdominal aortic aneurysms (AAA) are associated with overall mortality rates up to 90%. Despite extensive research, mechanisms leading to AAA…”
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Letter to the editor: Re: Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification by Dalgleish, Raymond, Micha, Dimitra, Superti-Furga, Andrea, van Dijk, Fleur S, Sillence, David O

“…A paper published in Orphanet Journal of Rare Diseases proposes a new classification of osteogenesis imperfecta (OI) based upon underlying pathological…”
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Human Fibroblasts as a Model for the Study of Bone Disorders by Claeys, Lauria, Bravenboer, Nathalie, Eekhoff, Elisabeth M W, Micha, Dimitra

“…Bone tissue degeneration is an urgent clinical issue, making it a subject of intensive research. Chronic skeletal disease forms can be prevalent, such as the…”
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Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia by Onoufriadis, Alexandros, Paff, Tamara, Antony, Dinu, Shoemark, Amelia, Micha, Dimitra, Kuyt, Bertus, Schmidts, Miriam, Petridi, Stavroula, Dankert-Roelse, Jeanette E., Haarman, Eric G., Daniels, Johannes M.A., Emes, Richard D., Wilson, Robert, Hogg, Claire, Scambler, Peter J., Chung, Eddie M.K., Pals, Gerard, Mitchison, Hannah M.

“…Defects in motile cilia and sperm flagella cause primary ciliary dyskinesia (PCD), characterized by chronic airway disease, infertility, and left-right…”
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In Vitro Modelling of Osteogenesis Imperfecta with Patient-Derived Induced Mesenchymal Stem Cells by Claeys, Lauria, Zhytnik, Lidiia, Ventura, Laura, Wisse, Lisanne E, Eekhoff, Elisabeth M W, Pals, Gerard, Bravenboer, Nathalie, Heine, Vivi M, Micha, Dimitra

“…(1) Mesenchymal stem cells (MSCs) are a valuable cell model to study the bone pathology of Osteogenesis Imperfecta (OI), a rare genetic collagen-related…”
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TGF-Beta Induces Activin A Production in Dermal Fibroblasts Derived from Patients with Fibrodysplasia Ossificans Progressiva by de Ruiter, Ruben D, Wisse, Lisanne E, Schoenmaker, Ton, Yaqub, Maqsood, Sánchez-Duffhues, Gonzalo, Eekhoff, E Marelise W, Micha, Dimitra

“…Fibrodysplasia ossificans progressiva (FOP) is a catastrophic, ultra-rare disease of heterotopic ossification caused by genetic defects in the gene. The mutant…”
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Osteogenic transdifferentiation of primary human fibroblasts to osteoblast-like cells with human platelet lysate by Cayami, Ferdy K., Claeys, Lauria, de Ruiter, Ruben, Smilde, Bernard J., Wisse, Lisanne, Bogunovic, Natalija, Riesebos, Elise, Eken, Lyra, Kooi, Irsan, Sistermans, Erik A., Bravenboer, Nathalie, Pals, Gerard, Faradz, Sultana M. H., Sie, Daoud, Eekhoff, E. Marelise W., Micha, Dimitra

“…Inherited bone disorders account for about 10% of documented Mendelian disorders and are associated with high financial burden. Their study requires…”
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[18F]NaF PET/CT scan as an early marker of heterotopic ossification in fibrodysplasia ossificans progressiva by Eekhoff, E. Marelise W., Botman, Esmée, Coen Netelenbos, J., de Graaf, Pim, Bravenboer, Nathalie, Micha, Dimitra, Pals, Gerard, de Vries, Teun J., Schoenmaker, Ton, Hoebink, Max, Lammertsma, Adriaan A., Raijmakers, Pieter G.H.M.

“…Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease with a progressive course characterized by episodically local flare-ups, which often but…”
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The intricate mechanism of PLS3 in bone homeostasis and disease by Zhong, Wenchao, Pathak, Janak L, Liang, Yueting, Zhytnik, Lidiia, Pals, Gerard, Eekhoff, Elisabeth M W, Bravenboer, Nathalie, Micha, Dimitra

“…Since our discovery in 2013 that genetic defects in lead to bone fragility, the mechanistic details of this process have remained obscure. It has been…”
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Homozygous DMRT2 variant associates with severe rib malformations in a newborn by Bouman, Arjan, Waisfisz, Quinten, Admiraal, Jop, van de Loo, Moniek, van Rijn, Rick R., Micha, Dimitra, Oostra, Roelof‐Jan, Mathijssen, Inge B.

“…Spondylocostal dysostosis (SCD) is a rare disorder characterized by vertebral segmentation defects and malformations of the ribs. SCD patients have some degree…”
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Exploration of the skeletal phenotype of the Col1a1 +/Mov13 mouse model for haploinsufficient osteogenesis imperfecta type 1 by Claeys, Lauria, Zhytnik, Lidiia, Wisse, Lisanne E, van Essen, Huib W, Eekhoff, E Marelise W, Pals, Gerard, Bravenboer, Nathalie, Micha, Dimitra

“…Osteogenesis Imperfecta is a rare genetic connective tissue disorder, characterized by skeletal dysplasia and fragile bones. Currently only two mouse models…”
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Functional Insights in PLS3-Mediated Osteogenic Regulation by Zhong, Wenchao, Neugebauer, Janine, Pathak, Janak L, Li, Xingyang, Pals, Gerard, Zillikens, M Carola, Eekhoff, Elisabeth M W, Bravenboer, Nathalie, Zhang, Qingbin, Hammerschmidt, Matthias, Wirth, Brunhilde, Micha, Dimitra

“…Plastin-3 (PLS3) encodes T-plastin, an actin-bundling protein mediating the formation of actin filaments by which numerous cellular processes are regulated…”
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Prevalence and Hospital Admissions in Patients With Osteogenesis Imperfecta in The Netherlands: A Nationwide Registry Study by Storoni, Silvia, Treurniet, Sanne, Maugeri, Alessandra, Pals, Gerard, van den Aardweg, Joost G, van der Pas, Stéphanie L, Elting, Mariet W, Kloen, Peter, Micha, Dimitra, Eekhoff, Elisabeth Marelise W

“…Osteogenesis Imperfecta (OI) is a complex disease caused by genetic alterations in production of collagen type I, and collagen-related proteins. Bone fragility…”
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Activin-A Induces Fewer, but Larger Osteoclasts From Monocytes in Both Healthy Controls and Fibrodysplasia Ossificans Progressiva Patients by Schoenmaker, Ton, Botman, Esmée, Sariyildiz, Merve, Micha, Dimitra, Netelenbos, Coen, Bravenboer, Nathalie, Kelder, Angele, Eekhoff, E. Marelise W., De Vries, Teun J.

“…Fibrodysplasia Ossificans Progressiva (FOP) is a rare genetic disease characterized by heterotopic ossification (HO) that occurs in muscle tissue, tendons, and…”
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Mapping the Response of Human Osteocytes in Native Matrix to Mechanical Loading Using RNA Sequencing by Zhang, Chen, Essen, Huib W., Sie, Daoud, Micha, Dimitra, Pals, Gerard, Klein‐Nulend, Jenneke, Bravenboer, Nathalie

“…ABSTRACT Osteocytes sense mechanical loads and transduce mechanical signals into a chemical response. They are the most abundant bone cells deeply embedded in…”
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[ 18 F]NaF PET/CT as a Marker for Fibrodysplasia Ossificans Progressiva: From Molecular Mechanisms to Clinical Applications in Bone Disorders by Zwama, Jolien, Rosenberg, Neeltje M, Verheij, Vincent A, Raijmakers, Pieter G H M, Yaqub, Maqsood, Botman, Esmée, de Ruiter, Ruben D, Garrelfs, Mark R, Bökenkamp, Arend, Micha, Dimitra, Schwarte, Lothar A, Teunissen, Bernd P, Lammertsma, Adriaan A, Boellaard, Ronald, Eekhoff, Elisabeth M W

“…Fibrodysplasia ossificans progressiva (FOP) is a rare genetic bone disorder characterized by episodic flare-ups in connective tissue, which are frequently…”
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The Role of Na:K:2Cl Cotransporter 1 (NKCC1/SLC12A2) in Dental Epithelium during Enamel Formation in Mice by Jalali, Rozita, Lodder, Johannes C, Zandieh-Doulabi, Behrouz, Micha, Dimitra, Melvin, James E, Catalan, Marcelo A, Mansvelder, Huibert D, DenBesten, Pamela, Bronckers, Antonius

“…Na :K :2Cl cotransporters (NKCCs) belong to the family of cation-coupled Cl transporters. We investigated whether enamel-producing mouse ameloblasts express…”
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From Genetics to Clinical Implications: A Study of 675 Dutch Osteogenesis Imperfecta Patients by Storoni, Silvia, Verdonk, Sara J E, Zhytnik, Lidiia, Pals, Gerard, Treurniet, Sanne, Elting, Mariet W, Sakkers, Ralph J B, van den Aardweg, Joost G, Eekhoff, Elisabeth M W, Micha, Dimitra

“…Osteogenesis imperfecta (OI) is a heritable connective tissue disorder that causes bone fragility due to pathogenic variants in genes responsible for the…”
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Epidermolysis Bullosa and Rickets in a 21-Year-Old Female: A Case Report by Yuniati, Renni, Hellmi, Rakhma Yanti, Dwijayanti, Gema Citra, Astuti, Meira Dewi Kusuma, Pals, Gerard, Micha, Dimitra, Faradz, Sultana MH

“…Epidermolysis bullosa (EB) is a group of rare genetic diseases that exhibit mechanical fragility of the skin. This condition will result in the occurrence of…”
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