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Center for Connective Tissue

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International scientific publications

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A systematic review on the evidence of  hematopoietic stem cell differentiation to fibroblasts. Smilde BJ, Botman E, De Vries TJ,  De Vries R, Micha D, Schoenmaker T, Janssen JWM, Eekhoff EMW. Biomedicines Nov 2022 (ahead of print).

Epidermolysis Bullosa and Rickets in a 21-Year-Old Female: A Case Report. Yuniati R, Hellmi RY, Dwijayanti GC, Astuti MDK, Pals G, Micha D, Faradz SMH. Case Rep Dermatol 2022 Oct;14:283–293.

Osteogenic transdifferentiation of primary human fibroblasts to osteoblast-like cells with human platelet lysate. Cayami FK, Claeys L, de Ruiter R, Smilde BJ, Wisse L, Bogunovic N, Riesebos E, Eken L, Kooi I, Sistermans EA, Bravenboer N, Pals G, Faradz SMH, Sie D, Eekhoff EMW, Micha D. Sci Rep. 2022 Aug 29;12(1):14686.

Prevalence and Hospital Admissions in Patients With Osteogenesis Imperfecta in The Netherlands: A Nationwide Registry Study. Storoni S, Treurniet S, Maugeri A, Pals G, van den Aardweg JG, van der Pas SL, Elting MW, Kloen P, Micha D, Eekhoff EMW. Front Endocrinol (Lausanne). 2022 Apr 25;13:869604.

Gene Therapy for Fibrodysplasia Ossificans Progressiva: Feasibility and Obstacles. Eekhoff EMW, de Ruiter RD, Smilde BJ, Schoenmaker T, de Vries TJ, Netelenbos C, Hsiao EC, Scott C, Haga N, Grunwald Z, De Cunto CL, di Rocco M, Delai PLR, Diecidue RJ, Madhuri V, Cho TJ, Morhart R, Friedman CS, Zasloff M, Pals G, Shim JH, Gao G, Kaplan F, Pignolo RJ, Micha D. Hum Gene Ther. 2022 Aug;33(15-16):782-788.

Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a CCDC114 mutation. Kos R, Israëls J, van Gogh CDL, Altenburg J, Diepenhorst S, Paff T, Boon EMJ, Micha D, Pals G, Neerincx AH, Maitland-van der Zee AH, Haarman EG; Amsterdam Mucociliary Clearance Disease (AMCD) Research Group. Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):89-101.

Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive P3H1 Pathogenic Variant. Zhytnik L, Duy BH, Eekhoff M, Wisse L, Pals G, Reimann E, Kõks S, Märtson A, Maugeri A, Maasalu K, Micha D. Genes (Basel). 2022 Feb 24;13(3):407.

Ocular characteristics and complications in patients with osteogenesis imperfecta: a systematic review. Treurniet S, Burger P, Ghyczy EAE, Verbraak FD, Curro-Tafili KR, Micha D, Bravenboer N, Ralston SH, de Vries R, Moll AC, Eekhoff EMW. Acta Ophthalmol. 2022 Feb;100(1):e16-e28.

Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop. de Ruiter RD, Smilde BJ, Pals G, Bravenboer N, Knaus P, Schoenmaker T, Botman E, Sánchez-Duffhues G, Pacifici M, Pignolo RJ, Shore EM, van Egmond M, Van Oosterwyck H, Kaplan FS, Hsiao EC, Yu PB, Bocciardi R, De Cunto CL, Longo Ribeiro Delai P, de Vries TJ, Hilderbrandt S, Jaspers RT, Keen R, Koolwijk P, Morhart R, Netelenbos JC, Rustemeyer T, Scott C, Stockklausner C, Ten Dijke P, Triffit J, Ventura F, Ravazzolo R, Micha D, Eekhoff EMW.Front Endocrinol (Lausanne). 2021 Nov 10;12:732728.

Pathophysiology of respiratory failure in patients with osteogenesis imperfecta: a systematic review. Storoni S, Treurniet S, Micha D, Celli M, Bugiani M, van den Aardweg JG, Eekhoff EMW. Ann Med. 2021 Dec;53(1):1676-1687.

Six Shades of Vascular Smooth Muscle Cells Illuminated by KLF4 (Krüppel-Like Factor 4). Yap C, Mieremet A, de Vries CJM, Micha D, de Waard V. Arterioscler Thromb Vasc Biol. 2021 Nov;41(11):2693-2707.

Molecular phenotyping and functional assessment of smooth muscle-like cells with pathogenic variants in aneurysm genes ACTA2, MYH11, SMAD3 and FBN1. Burger J, Bogunovic N, de Wagenaar NP, Liu H, van Vliet N, IJpma A, Maugeri A, Micha D, Verhagen HJM, Ten Hagen TLM, Majoor-Krakauer D, van der Pluijm I, Essers J, Yeung KK. Hum Mol Genet. 2021 Nov 16;30(23):2286-2299.

Activin-A Induces Early Differential Gene Expression Exclusively in Periodontal Ligament Fibroblasts from Fibrodysplasia Ossificans Progressiva Patients. Schoenmaker T, Mokry M, Micha D, Netelenbos C, Bravenboer N, Gilijamse M, Eekhoff EMW, de Vries TJ. Biomedicines. 2021 Jun 1;9(6):629.

Collagen transport and related pathways in Osteogenesis Imperfecta. Claeys L, Storoni S, Eekhoff M, Elting M, Wisse L, Pals G, Bravenboer N, Maugeri A, Micha D. Hum Genet. 2021 Aug;140(8):1121-1141.

Patient-Specific 3-Dimensional Model of Smooth Muscle Cell and Extracellular Matrix Dysfunction for the Study of Aortic Aneurysms. Bogunovic N, Meekel JP, Majolée J, Hekhuis M, Pyszkowski J, Jockenhövel S, Kruse M, Riesebos E, Micha D, Blankensteijn JD, Hordijk PL, Ghazanfari S, Yeung KK. J Endovasc Ther. 2021 Aug;28(4):604-613.

Inflammatory Gene Expression of Human Perivascular Adipose Tissue in Abdominal Aortic Aneurysms. Meekel JP, Dias-Neto M, Bogunovic N, Conceição G, Sousa-Mendes C, Stoll GR, Leite-Moreira A, Huynh J, Micha D, Eringa EC, Balm R, Blankensteijn JD, Yeung KK. Eur J Vasc Endovasc Surg. 2021 Jun;61(6):1008-1016.

Mechanical stress regulates bone regulatory gene expression independent of estrogen and vitamin D deficiency in rats. Nepal AK, van Essen HW, van der Veen AJ, van Wieringen WN, Stavenuiter AWD, Cayami FK, Pals G, Micha D, Vanderschueren D, Lips P, Bravenboer N. J Orthop Res. 2021 Jan;39(1):42-52.

Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2. van Dijk FS, Semler O, Etich J, Köhler A, Jimenez-Estrada JA, Bravenboer N, Claeys L, Riesebos E, Gegic S, Piersma SR, Jimenez CR, Waisfisz Q, Flores CL, Nevado J, Harsevoort AJ, Janus GJM, Franken AAM, van der Sar AM, Meijers-Heijboer H, Heath KE, Lapunzina P, Nikkels PGJ, Santen GWE, Nüchel J, Plomann M, Wagener R, Rehberg M, Hoyer-Kuhn H, Eekhoff EMW, Pals G, Mörgelin M, Newstead S, Wilson BT, Ruiz-Perez VL, Maugeri A, Netzer C, Zaucke F, Micha D. Am J Hum Genet. 2020 Nov 5;107(5):989-999. 

When Limb Surgery Has Become the Only Life-Saving Therapy in FOP: A Case Report and Systematic Review of the Literature. Botman E, Treurniet S, Lubbers WD, Schwarte LA, Schober PR, Sabelis L, Peters EJG, van Schie A, de Vries R, Grunwald Z, Smilde BJ, Nieuwenhuijzen JA, Visser M, Micha D, Bravenboer N, Coen Netelenbos J, Teunissen BP, de Graaf P, Raijmakers PGHM, Smit JM, Eekhoff EMW.Front Endocrinol (Lausanne). 2020 Aug 21;11:570.

Collaboration Around Rare Bone Diseases Leads to the Unique Organizational Incentive of the Amsterdam Bone Center. Eekhoff EMW, Micha D, Forouzanfar T, de Vries TJ, Netelenbos JC, Klein-Nulend J, van Loon JJWA, Lubbers WD, Schwarte L, Schober P, Raijmakers PGHM, Teunissen BP, de Graaf P, Lammertsma AA, Yaqub MM, Botman E, Treurniet S, Smilde BJ, Bökenkamp A, Boonstra A, Kamp O, Nieuwenhuijzen JA, Visser MC, Baayen HJC, Dahele M, Eeckhout GAM, Goderie TPM, Smits C, Gilijamse M, Karagozoglu KH, van de Valk P, Dickhoff C, Moll AC, Verbraak FFD, Curro-Tafili KKR, Ghyczy EAE, Rustemeyer T, Saeed P, Maugeri A, Pals G, Ridwan-Pramana A, Pekel E, Schoenmaker T, Lems W, Winters HAH, Botman M, Giannakópoulos GF, Koolwijk P, Janssen JJWM, Kloen P, Bravenboer N, Smit JM, Helder MN.Front Endocrinol (Lausanne). 2020 Aug 11;11:481. 

Activin-A Induces Fewer, but Larger Osteoclasts From Monocytes in Both Healthy Controls and Fibrodysplasia Ossificans Progressiva Patients. Schoenmaker T, Botman E, Sariyildiz M, Micha D, Netelenbos C, Bravenboer N, Kelder A, Eekhoff EMW, De Vries TJ.Front Endocrinol (Lausanne). 2020 Jul 14;11:501.

A Clinical Perspective on Advanced Developments in Bone Biopsy Assessment in Rare Bone Disorders. Treurniet S, Eekhoff EMW, Schmidt FN, Micha D, Busse B, Bravenboer N.Front Endocrinol (Lausanne). 2020 Jun 23;11:399. 

Human Fibroblasts as a Model for the Study of Bone Disorders. Claeys L, Bravenboer N, Eekhoff EMW, Micha D. Front Endocrinol (Lausanne). 2020 Jun 19;11:394. 

Diagnostic Value of Magnetic Resonance Imaging in Fibrodysplasia Ossificans Progressiva. Botman E, Teunissen BP, Raijmakers P, de Graaf P, Yaqub M, Treurniet S, Schoenmaker T, Bravenboer N, Micha D, Pals G, Bökenkamp A, Netelenbos JC, Lammertsma AA, Eekhoff EM.JBMR Plus. 2020 Apr 28;4(6):e10363. 

An in vitro model to evaluate the properties of matrices produced by fibroblasts from osteogenesis imperfecta and Ehlers-Danlos Syndrome patients. Micha D, Pals G, Smit TH, Ghazanfari S.Biochem Biophys Res Commun. 2020 Jan 8;521(2):310-317. doi: 10.1016/j.bbrc.2019.09.081. Epub 2019 Oct 24.

Pathogenic effect of a TGFBR1 mutation in a family with Loeys-Dietz syndrome. Cozijnsen L, Plomp AS, Post JG, Pals G, Bogunovic N, Yeung KK, Niessen HWM, Goumans MTH, Barge-Schaapveld DQCM, Micha D. Mol Genet Genomic Med. 2019 Oct;7(10):e00943. 

The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1. Cayami FK, Maugeri A, Treurniet S, Setijowati ED, Teunissen BP, Eekhoff EMW, Pals G, Faradz SM, Micha D. Mol Genet Genomic Med. 2019 Aug;7(8):e823.

Low prevalence of male microchimerism in women with Mayer-Rokitansky-Küster-Hauser syndrome. Peters HE, Johnson BN, Ehli EA, Micha D, Verhoeven MO, Davies GE, Dekker JJML, Overbeek A, Berg MHVD, Dulmen-den Broeder EV, Leeuwen FEV, Mijatovic V, Boomsma DI, Lambalk CB.Hum Reprod. 2019 Jun 4;34(6):1117-1125.

Impaired smooth muscle cell contractility as a novel concept of abdominal aortic aneurysm pathophysiology. Bogunovic N, Meekel JP, Micha D, Blankensteijn JD, Hordijk PL, Yeung KK.Sci Rep. 2019 May 2;9(1):6837. 

Evolution of heterotopic bone in fibrodysplasia ossificans progressiva: An [18F]NaF PET/CT study. Botman E, Raijmakers PGHM, Yaqub M, Teunissen B, Netelenbos C, Lubbers W, Schwarte LA, Micha D, Bravenboer N, Schoenmaker T, de Vries TJ, Pals G, Smit JM, Koolwijk P, Trotter DG, Lammertsma AA, Eekhoff EMW.Bone. 2019 Jul;124:1-6. 

The effect of Activin-A on periodontal ligament fibroblasts-mediated osteoclast formation in healthy donors and in patients with fibrodysplasia ossificans progressiva. Schoenmaker T, Wouters F, Micha D, Forouzanfar T, Netelenbos C, Eekhoff EMW, Bravenboer N, de Vries TJ.J Cell Physiol. 2019 Jul;234(7):10238-10247.

Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype. Cannaerts E, Kempers M, Maugeri A, Marcelis C, Gardeitchik T, Richer J, Micha D, Beauchesne L, Timmermans J, Vermeersch P, Meyten N, Chénier S, van de Beek G, Peeters N, Alaerts M, Schepers D, Van Laer L, Verstraeten A, Loeys B.J Med Genet. 2019 Apr;56(4):220-227.

An in vitro method to keep human aortic tissue sections functionally and structurally intact. Meekel JP, Groeneveld ME, Bogunovic N, Keekstra N, Musters RJP, Zandieh-Doulabi B, Pals G, Micha D, Niessen HWM, Wiersema AM, Kievit JK, Hoksbergen AWJ, Wisselink W, Blankensteijn JD, Yeung KK.Sci Rep. 2018 May 25;8(1):8094.

Homozygous DMRT2 variant associates with severe rib malformations in a newborn.  Bouman A, Waisfisz Q, Admiraal J, van de Loo M, van Rijn RR, Micha D, Oostra RJ, Mathijssen IB.Am J Med Genet A. 2018 May;176(5):1216-1221. 

Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients. Paff T, Kooi IE, Moutaouakil Y, Riesebos E, Sistermans EA, Daniels HJMA, Weiss JMM, Niessen HHWM, Haarman EG, Pals G, Micha D. Hum Mutat. 2018 May;39(5):653-665. 

Betaglycan (TGFBR3) up-regulation correlates with increased TGF-β signaling in Marfan patient fibroblasts in vitro. Groeneveld ME, Bogunovic N, Musters RJP, Tangelder GJ, Pals G, Wisselink W, Micha D, Yeung KK. Cardiovasc Pathol. 2018 Jan-Feb;32:44-49.

[18F]NaF PET/CT scan as an early marker of heterotopic ossification in fibrodysplasia ossificans progressiva. Eekhoff EMW, Botman E, Coen Netelenbos J, de Graaf P, Bravenboer N, Micha D, Pals G, de Vries TJ, Schoenmaker T, Hoebink M, Lammertsma AA, Raijmakers PGHM. Bone. 2018 Apr;109:143-146. 

Periodontal ligament fibroblasts as a cell model to study osteogenesis and osteoclastogenesis in fibrodysplasia ossificans progressiva.  de Vries TJ, Schoenmaker T, Micha D, Hogervorst J, Bouskla S, Forouzanfar T, Pals G, Netelenbos C, Eekhoff EMW, Bravenboer N.Bone. 2018 Apr;109:168-177. 

The Role of Na:K:2Cl Cotransporter 1 (NKCC1/SLC12A2) in Dental Epithelium during Enamel Formation in Mice. Jalali R, Lodder JC, Zandieh-Doulabi B, Micha D, Melvin JE, Catalan MA, Mansvelder HD, DenBesten P, Bronckers A. Front Physiol. 2017 Nov 21;8:924. 

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1. Miyake N, Wolf NI, Cayami FK, Crawford J, Bley A, Bulas D, Conant A, Bent SJ, Gripp KW, Hahn A, Humphray S, Kimura-Ohba S, Kingsbury Z, Lajoie BR, Lal D, Micha D, Pizzino A, Sinke RJ, Sival D, Stolte-Dijkstra I, Superti-Furga A, Ulrick N, Taft RJ, Ogata T, Ozono K, Matsumoto N, Neubauer BA, Simons C, Vanderver A. Neurogenetics. 2017 Dec;18(4):185-194. 

Flare-Up After Maxillofacial Surgery in a Patient With Fibrodysplasia Ossificans Progressiva: An [18F]-NaF PET/CT Study and a Systematic Review. Eekhoff EMW, Netelenbos JC, de Graaf P, Hoebink M, Bravenboer N, Micha D, Pals G, de Vries TJ, Lammertsma AA, Raijmakers PG, van Es RJ.JBMR Plus. 2017 Jul 5;2(1):55-58. 

Transdifferentiation of Human Dermal Fibroblasts to Smooth Muscle-Like Cells to Study the Effect of MYH11 and ACTA2 Mutations in Aortic Aneurysms. Yeung KK, Bogunovic N, Keekstra N, Beunders AA, Pals J, van der Kuij K, Overwater E, Wisselink W, Blankensteijn JD, van Hinsbergh VW, Musters RJ, Pals G, Micha D, Zandieh-Doulabi B. Hum Mutat. 2017 Apr;38(4):439-450. 

Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects. Paff T, Loges NT, Aprea I, Wu K, Bakey Z, Haarman EG, Daniels JMA, Sistermans EA, Bogunovic N, Dougherty GW, Höben IM, Große-Onnebrink J, Matter A, Olbrich H, Werner C, Pals G, Schmidts M, Omran H, Micha D. Am J Hum Genet. 2017 Jan 5;100(1):160-168. 

Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients. Demirdas S, Dulfer E, Robert L, Kempers M, van Beek D, Micha D, van Engelen BG, Hamel B, Schalkwijk J, Loeys B, Maugeri A, Voermans NC. Clin Genet. 2017 Mar;91(3):411-425. 

Inhibition of TGFβ signaling decreases osteogenic differentiation of fibrodysplasia ossificans progressiva fibroblasts in a novel in vitro model of the disease. Micha D, Voermans E, Eekhoff MEW, van Essen HW, Zandieh-Doulabi B, Netelenbos C, Rustemeyer T, Sistermans EA, Pals G, Bravenboer N.Bone. 2016 Mar;84:169-180.