Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations

Signal integration in the endoplasmic reticulum unfolded protein response

Ron, D., & Walter, P. (2007) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2199 · Cited by 6,431

Losartan, an AT1 Antagonist, Prevents Aortic Aneurysm in a Mouse Model of Marfan Syndrome

Habashi, J. P., Judge, D. P., Holm, T. M., Cohn, R. D., Loeys, B. L., Cooper, T. K., Myers, L., Klein, E. C., Liu, G., Calvi, C., et al. (2006) · Science · doi:10.1126/science.1124287 · Cited by 1,794

A Selective Inhibitor of eIF2α Dephosphorylation Protects Cells from ER Stress

Boyce, M., Bryant, K. F., Jousse, C., Long, K., Harding, H. P., Scheuner, D. L., Kaufman, R. J., Ma, D., Coen, D. M., Ron, D., et al. (2005) · Science · doi:10.1126/science.1101902 · Cited by 1,403

Collagens, modifying enzymes and their mutations in humans, flies and worms

Myllyharju, J. (2003) · Trends in Genetics · doi:10.1016/j.tig.2003.11.004 · Cited by 1,229

ERAD: the long road to destruction

Meusser, B., Hirsch, C., Jarosch, E., & Sommer, T. (2005) · Nature Cell Biology · doi:10.1038/ncb0805-766 · Cited by 1,221

Of Extracellular Matrix, Scaffolds, and Signaling: Tissue Architecture Regulates Development, Homeostasis, and Cancer

Nelson, C. M., & Bissell, M. J. (2006) · Annual Review of Cell and Developmental Biology · doi:10.1146/annurev.cellbio.22.010305.104315 · Cited by 1,153

The endoplasmic reticulum and the unfolded protein response

Malhotra, J. D., & Kaufman, R. J. (2007) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2007.09.003 · Cited by 1,014

Nonsense-mediated mRNA decayin health and disease

Frischmeyer, P. A. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.10.1893 · Cited by 991

Endoplasmic Reticulum Stress Signaling in Disease

Marciniak, S. J., & Ron, D. (2006) · Physiological Reviews · doi:10.1152/physrev.00015.2006 · Cited by 951

Connective Tissue and Its Heritable Disorders

Heinegård, D., Aspberg, A., Franzén, A., & Lorenzo, P. (2002) · Wiley eBooks · doi:10.1002/0471221929 · Cited by 946

Defined extracellular matrix compositions support stiffness-insensitive cell spreading and adhesion signaling

Conway, J. R. W., Isomursu, A., Follain, G., Härmä, V., Jou-Ollé, E., Pasquier, N., Välimäki, E., Rantala, J., & Ivaska, J. (2023) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2304288120 · Cited by 54

Collagen Structure, Folding and Function

Makareeva, E., & Leikin, S. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-397165-4.00007-1 · Cited by 48

The Biological Role of Hyaluronan-Rich Oocyte-Cumulus Extracellular Matrix in Female Reproduction

Nagyová, E. (2018) · International Journal of Molecular Sciences · doi:10.3390/ijms19010283 · Cited by 49

Unraveling the Role of the Tumor Extracellular Matrix to Inform Nanoparticle Design for Nanomedicine

Cassani, M., Fernandes, S., Pagliari, S., Cavalieri, F., Caruso, F., & Forte, G. (2025) · Advanced Science · doi:10.1002/advs.202409898 · Cited by 48

Extracellular Matrix (ECM) Molecules

Kaur, J., & Reinhardt, D. P. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-397157-9.00003-5 · Cited by 50

Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients

Renner, S., Schüler, H., Alawi, M., Kolbe, V., Rybczynski, M., Woitschach, R., Sheikhzadeh, S., Stark, V. C., Olfe, J., Roser, E., et al. (2019) · Genetics in Medicine · doi:10.1038/s41436-019-0435-z · Cited by 47

Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome

Chiarelli, N., Carini, G., Zoppi, N., Ritelli, M., & Colombi, M. (2018) · PLOS ONE · doi:10.1371/journal.pone.0191220 · Cited by 45

PECM: Prediction of extracellular matrix proteins using the concept of Chou’s pseudo amino acid composition

Zhang, J., Sun, P., Zhao, X., & Ma, Z. (2014) · Journal of Theoretical Biology · doi:10.1016/j.jtbi.2014.08.002 · Cited by 47

Current Trends and Future Prospects of Integrating Electrospinning With 3D Printing Techniques for Mimicking Bone Extracellular Matrix Scaffolds

Abdullah, K. K., & Molnár, K. (2025) · Journal of Polymer Science · doi:10.1002/pol.20241010 · Cited by 47

Annexin A2 mediates collagen VI secretion, pulmonary elasticity, and bronchial epithelial cell apoptosis

Dassah, M., Almeida, D., Hahn, R., Bonaldo, P., Worgall, S., & Hajjar, K. A. (2013) · Journal of Cell Science · doi:10.1242/jcs.137802 · Cited by 50

Skeletal diseases caused by mutations that affect collagen structure and function

Arnold, W. V., & Fertala, A. (2013) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/j.biocel.2013.05.017 · Cited by 45

Ziploc-ing the structure: Triple helix formation is coordinated by rough endoplasmic reticulum resident PPIases

Ishikawa, Y., Boudko, S. P., & Bächinger, H. P. (2015) · Biochimica et Biophysica Acta (BBA) - General Subjects · doi:10.1016/j.bbagen.2014.12.024 · Cited by 47

The Chemical Chaperone, PBA, Reduces ER Stress and Autophagy and Increases Collagen IV α5 Expression in Cultured Fibroblasts From Men With X-Linked Alport Syndrome and Missense Mutations

Wang, D., Mohammad, M., Wang, Y., Tan, R. H., Murray, L. S., Ricardo, S. D., Dagher, H., Agtmael, T. V., & Savige, J. (2017) · Kidney International Reports · doi:10.1016/j.ekir.2017.03.004 · Cited by 44

Mass spectrometry and the cellular surfaceome

Pauwels, J., Fijałkowska, D., Eyckerman, S., & Gevaert, K. (2021) · Mass Spectrometry Reviews · doi:10.1002/mas.21690 · Cited by 48

Decellularized Extracellular Matrix for Tissue Engineering (Review)

Isaeva, E. V., Beketov, E. E., Arguchinskaya, N. V., Иванов, С. А., Шегай, П. В., & Каприн, А. Д. (2022) · Современные технологии в медицине · doi:10.17691/stm2022.14.3.07 · Cited by 45

Endoplasmic Reticulum Stress as a Primary Pathogenic Mechanism Leading to Age-Related Macular Degeneration

Libby, R. T., & Gould, D. B. (2009) · Advances in experimental medicine and biology · doi:10.1007/978-1-4419-1399-9_46 · Cited by 44

Injectable hydrogels for islet transplantation: a concise review

Shrestha, P. S., Regmi, S., & Jeong, J. (2019) · Journal of Pharmaceutical Investigation · doi:10.1007/s40005-019-00433-3 · Cited by 43

New therapeutic targets in rare genetic skeletal diseases

Briggs, M. D., Bell, P. A., Wright, M. J., & Piróg, K. A. (2015) · Expert Opinion on Orphan Drugs · doi:10.1517/21678707.2015.1083853 · Cited by 40

4-Sodium phenyl butyric acid has both efficacy and counter-indicative effects in the treatment of Col4a1 disease

Jones, F. E., Murray, L., McNeilly, S., Dean, A., Aman, A., Lu, Y., Nikolova, N., Malomgré, R., Horsburgh, K. J., Holmes, W. M., et al. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddy369 · Cited by 36

Endoplasmic Reticulum Stress-Unfolding Protein Response-Apoptosis Cascade Causes Chondrodysplasia in a col2a1 p.Gly1170Ser Mutated Mouse Model

Liang, G., Lian, C., Huang, D., Gao, W., Liang, A., Peng, Y., Ye, W., Wu, Z., Su, P., & Huang, D. (2014) · PLoS ONE · doi:10.1371/journal.pone.0086894 · Cited by 39

The Sec domain protein Scfd1 facilitates trafficking of ECM components during chondrogenesis

Hou, N., Yang, Y., Scott, I. C., & Lou, X. (2016) · Developmental Biology · doi:10.1016/j.ydbio.2016.11.010 · Cited by 39

Mechanical elasticity of proline-rich and hydroxyproline-rich collagen-like triple-helices studied using steered molecular dynamics

Ghanaeian, A., & Soheilifard, R. (2018) · Journal of the mechanical behavior of biomedical materials/Journal of mechanical behavior of biomedical materials · doi:10.1016/j.jmbbm.2018.06.021 · Cited by 39

Lack of COL6/collagen VI causes megakaryocyte dysfunction by impairing autophagy and inducing apoptosis

Abbonante, V., Malara, A., Chrisam, M., Metti, S., Soprano, P. M., Semplicini, C., Bello, L., Bozzi, V., Battiston, M., Pecci, A., et al. (2022) · Autophagy · doi:10.1080/15548627.2022.2100105 · Cited by 38

Cell‐specific and developmental expression of lectican‐cleaving proteases in mouse hippocampus and neocortex

Levy, C., Brooks, J. M., Chen, J., Su, J., & Fox, M. A. (2014) · The Journal of Comparative Neurology · doi:10.1002/cne.23701 · Cited by 40

Multifaced Roles of the αvβ3 Integrin in Ehlers–Danlos and Arterial Tortuosity Syndromes’ Dermal Fibroblasts

Zoppi, N., Chiarelli, N., Ritelli, M., & Colombi, M. (2018) · International Journal of Molecular Sciences · doi:10.3390/ijms19040982 · Cited by 37

Modeling type II collagenopathy skeletal dysplasia by directed conversion and induced pluripotent stem cells

Okada, M., Ikegawa, S., Morioka, M., Yamashita, A., Saito, A., Sawai, H., Murotsuki, J., Ohashi, H., Okamoto, T., Nishimura, G., et al. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu444 · Cited by 37

Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations

Ritelli, M., Chiarelli, N., Zoppi, N., Dordoni, C., Quinzani, S., Traversa, M., Venturini, M., Calzavara-Pinton, P., & Colombi, M. (2015) · Molecular Genetics and Metabolism Reports · doi:10.1016/j.ymgmr.2014.11.005 · Cited by 37

CCN2/CTGF is required for matrix organization and to protect growth plate chondrocytes from cellular stress

Hall‐Glenn, F., Aivazi, A., Akopyan, L., Ong, J. R., Baxter, R., Benya, P. D., Goldschmeding, R., van Nieuwenhoven, F. A., Hunziker, E. B., & Lyons, K. M. (2013) · Journal of Cell Communication and Signaling · doi:10.1007/s12079-013-0201-y · Cited by 36

Dystroglycan is involved in skin morphogenesis downstream of the Notch signaling pathway

Sirour, C., Hidalgo, M., Bello, V., Buisson, N., Darribère, T., & Moreau, N. (2011) · Molecular Biology of the Cell · doi:10.1091/mbc.e11-01-0074 · Cited by 36

Age-Related Changes in Extracellular Matrix

Guvatova, Z. G., Borisov, P. V., Alekseev, A. A., & Moskalev, A. (2022) · Biochemistry (Moscow) · doi:10.1134/s0006297922120112 · Cited by 35

Shear wave elastography to assess stiffness of the human ovary and other reproductive tissues across the reproductive lifespan in health and disease

Zaniker, E. J., Zhang, M., Hughes, L. M., LaFollette, L., Atazhanova, T., Trofimchuk, A., Babayev, E., & Duncan, F. E. (2024) · Biology of Reproduction · doi:10.1093/biolre/ioae050 · Cited by 34

Augmented ERAD (ER-associated degradation) activity in chondrocytes is necessary for cartilage development and maintenance

Sim, H. J., Cho, C., Kim, H. E., Hong, J., Song, E. K., Kwon, K. Y., Jang, D., Kim, S., Lee, H.-S., Lee, C., et al. (2022) · Science Advances · doi:10.1126/sciadv.abl4222 · Cited by 30

Heat shock protein 47 and 65-kDa FK506-binding protein weakly but synergistically interact during collagen folding in the endoplasmic reticulum

Ishikawa, Y., Holden, P. K., & Bächinger, H. P. (2017) · Journal of Biological Chemistry · doi:10.1074/jbc.m117.802298 · Cited by 34

Collagen misfolding mutations: the contribution of the unfolded protein response to the molecular pathology

Bateman, J. F., Shoulders, M. D., & Lamandé, S. R. (2022) · Connective Tissue Research · doi:10.1080/03008207.2022.2036735 · Cited by 34

Decellularized Cell‐Secreted Extracellular Matrices as Biomaterials for Tissue Engineering

Ramos‐Rodriguez, D. H., & Leach, J. K. (2024) · Small Science · doi:10.1002/smsc.202400335 · Cited by 35

Ziploc-ing the structure 2.0: Endoplasmic reticulum-resident peptidyl prolyl isomerases show different activities toward hydroxyproline

Ishikawa, Y., Mizuno, K., & Bächinger, H. P. (2017) · Journal of Biological Chemistry · doi:10.1074/jbc.m116.772657 · Cited by 32

3D printed tissue models: From hydrogels to biomedical applications

Cadamuro, F., Nicotra, F., & Russo, L. (2023) · Journal of Controlled Release · doi:10.1016/j.jconrel.2023.01.048 · Cited by 35

Organoid-based tissue engineering for advanced tissue repair and reconstruction

Hsiung, N., Ju, Y., Yang, K. C., Pu, Y., Zeng, W., Zhao, H., Zou, P., Ye, J., Yi, K., & Wang, X. (2025) · Materials Today Bio · doi:10.1016/j.mtbio.2025.102093 · Cited by 40

Zebrafish Developmental Models of Skeletal Diseases

Luderman, L. N., Ünlü, G., & Knapik, E. W. (2017) · Current topics in developmental biology/Current Topics in Developmental Biology · doi:10.1016/bs.ctdb.2016.11.004 · Cited by 32

Stress signaling and the shaping of the mammary tissue in development and cancer

Avivar‐Valderas, A., Wen, H. C., & Aguirre‐Ghiso, J. A. (2014) · Oncogene · doi:10.1038/onc.2013.554 · Cited by 34

Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Morimoto, M., Yu, Z., Stenzel, P., Clewing, J. M., Najafian, B., Mayfield, C., Hendson, G., Weinkauf, J. G., Gormley, A. K., Parham, D. M., et al. (2012) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-7-70 · Cited by 32

Toward a systems level view of the ECM and related proteins: A framework for the systematic definition and analysis of biological systems

Cromar, G. L., Xiong, X., Chautard, É., Ricard‐Blum, S., & Parkinson, J. (2012) · Proteins Structure Function and Bioinformatics · doi:10.1002/prot.24036 · Cited by 31

TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin

Arseni, L., Lanzafame, M., Compe, E., Fortugno, P., Afonso-Barroso, A., Peverali, F. A., Lehmann, A. R., Zambruno, G., Egly, J., Stefanini, M., et al. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1416181112 · Cited by 30

Hypertrophic chondrocytes at the junction of musculoskeletal structures

Chen, N., Wu, R. W. H., Lam, Y., Chan, W. C. W., & Chan, D. T.-M. (2023) · Bone Reports · doi:10.1016/j.bonr.2023.101698 · Cited by 34

Inhibition of MT1-MMP proteolytic function and ERK1/2 signalling influences cell migration and invasion through changes in MMP-2 and MMP-9 levels

Cepeda, M. A., Evered, C. L., Pelling, J. J. H., & Damjanovski, S. (2017) · Journal of Cell Communication and Signaling · doi:10.1007/s12079-016-0373-3 · Cited by 30

Integrin β1 Is Necessary for the Maintenance of Corneal Structural Integrity

Parapuram, S. K., Huh, K., Liu, S., & Leask, A. (2011) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.10-6945 · Cited by 30

EcmPred: Prediction of extracellular matrix proteins based on random forest with maximum relevance minimum redundancy feature selection

Kandaswamy, K. K., Pugalenthi, G., Kalies, K., Hartmann, E., & Martinetz, T. (2012) · Journal of Theoretical Biology · doi:10.1016/j.jtbi.2012.10.015 · Cited by 29

Therapies for genetic extracellular matrix diseases of the skin

Nyström, A., Bernasconi, R., & Bornert, O. (2017) · Matrix Biology · doi:10.1016/j.matbio.2017.12.010 · Cited by 29

Mutations in COMP cause familial carpal tunnel syndrome

Li, C., Wang, N., Schäffer, A. A., Liu, X., Zhao, Z., Elliott, G., Garrett, L. J., Choi, N. T., Wang, Y., Wang, Y., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-17378-z · Cited by 31

Increased Osteocyte Lacunae Density in the Hypermineralized Bone Matrix of Children with Osteogenesis Imperfecta Type I

Mähr, M., Blouin, S., Behanová, M., Misof, B. M., Glorieux, F. H., Zwerina, J., Rauch, F., Hartmann, M. A., & Fratzl‐Zelman, N. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22094508 · Cited by 27

ADAMTS genes and the risk of cerebral aneurysm

Arning, A., Jeibmann, A., Köhnemann, S., Brokinkel, B., Ewelt, C., Berger, K., Wellmann, J., Nowak‐Göttl, U., Stummer, W., Stoll, M., et al. (2016) · Journal of neurosurgery · doi:10.3171/2015.7.jns154 · Cited by 28

Targeting the extracellular matrix for immunomodulation: applications in drug delivery and cell therapies

Aghlara-Fotovat, S., Nash, A., Kim, B., Krencik, R., & Omid Veiseh, A. (2021) · Drug Delivery and Translational Research · doi:10.1007/s13346-021-01018-0 · Cited by 29

Mechanistic insights into skeletal development gained from genetic disorders

Yip, R. K. H., Chan, D. T.-M., & Cheah, K. S. E. (2019) · Current topics in developmental biology/Current Topics in Developmental Biology · doi:10.1016/bs.ctdb.2019.02.002 · Cited by 26

Advances in the proteomic profiling of the matrisome and adhesome

Krásný, L., & Huang, P. H. (2021) · Expert Review of Proteomics · doi:10.1080/14789450.2021.1984885 · Cited by 26

Hrd1 participates in the regulation of collagen I synthesis in renal fibrosis

Li, L., Shen, Y., Ding, Y., Liu, Y., Su, D., & Liang, X. (2013) · Molecular and Cellular Biochemistry · doi:10.1007/s11010-013-1843-z · Cited by 27

Aberrant Mitochondria in a Bethlem Myopathy Patient with a Homozygous Amino Acid Substitution That Destabilizes the Collagen VI α2(VI) Chain

Zamurs, L. K., Idoate, M. A., Hanssen, E. G., Gómez‐Ibáñez, A., Pástor, P., & Lamandé, S. R. (2014) · Journal of Biological Chemistry · doi:10.1074/jbc.m114.632208 · Cited by 26

Cell interactions with the extracellular matrix

Bruckner‐Tuderman, L., von der Mark, K., Pihlajaniemi, T. A., & Unsicker, K. (2009) · Cell and Tissue Research · doi:10.1007/s00441-009-0891-x · Cited by 26

Knockout of the gene encoding the extracellular matrix protein SNED1 results in early neonatal lethality and craniofacial malformations

Barqué, A., Jan, K., Fuente, E. D. L., Nicholas, C. L., Hynes, R. O., & Naba, A. (2020) · Developmental Dynamics · doi:10.1002/dvdy.258 · Cited by 24

Deletions within COL11A1in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA)

Vijzelaar, R., Waller, S. J., Errami, A., Donaldson, A., Lourenço, T., Rodrigues, M., McConnell, V. P. M., Fincham, G., Snead, M. P., & Richards, A. J. (2013) · BMC Medical Genetics · doi:10.1186/1471-2350-14-48 · Cited by 25

Genotype-phenotype relationship in a large cohort of osteogenesis imperfecta patients with COL1A1 mutations revealed by a new scoring system

Li, L., Lyu, F., Song, Y., Wang, O., Jiang, Y., Xia, W., Xing, X., & Li, M. (2019) · Chinese Medical Journal · doi:10.1097/cm9.0000000000000013 · Cited by 24

A local regulatory network in the testis mediated by laminin and collagen fragments that supports spermatogenesis

Li, L., Li, H., Wang, L., Bu, T., Liu, S., Mao, B., & Cheng, C. Y. (2021) · Critical Reviews in Biochemistry and Molecular Biology · doi:10.1080/10409238.2021.1901255 · Cited by 24

Noncanonical ER–Golgi trafficking and autophagy of endogenous procollagen in osteoblasts

Gorrell, L. M., Omari, S., Makareeva, E., & Leikin, S. (2021) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-021-04017-z · Cited by 24

Extracellular matrix biomimicry for the creation of investigational and therapeutic devices

Pellowe, A. S., & Gonzalez, A. L. (2015) · Wiley Interdisciplinary Reviews Nanomedicine and Nanobiotechnology · doi:10.1002/wnan.1349 · Cited by 24

A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse ε-sarcoglycan in the late secretory pathway

Waite, A. J., Rosa, M. C. D., Brancaccio, A., & Blake, D. J. (2011) · Human Mutation · doi:10.1002/humu.21561 · Cited by 24

Effect of rapamycin on bone mass and strength in the α2(I)‐G610C mouse model of osteogenesis imperfecta

Bateman, J. F., Sampurno, L., Maurizi, A., Lamandé, S. R., Sims, N. A., Cheng, T. L., Schindeler, A., & Little, D. G. (2018) · Journal of Cellular and Molecular Medicine · doi:10.1111/jcmm.14072 · Cited by 24

Introduction: The role of extracellular matrix in nervous system development and maintenance

Reichardt, L. F., & Prokop, A. (2011) · Developmental Neurobiology · doi:10.1002/dneu.20975 · Cited by 24

Mechanical Signaling: Molecular Mechanisms, Biological Functions, Diseases, and Therapeutic Targets

Long, Y., Wang, P., Lei, J., Su, B., Wei, Q., & Liu, X. (2025) · MedComm · doi:10.1002/mco2.70523 · Cited by 27

Architectural delineation and molecular identification of extracellular matrix in ascidian embryos and larvae

Wei, J., Wang, G., Li, X., Ren, P., Yu, H., & Dong, B. (2017) · Biology Open · doi:10.1242/bio.026336 · Cited by 23

Proteomics and N‐glycoproteomics analysis of an extracellular matrix‐based scaffold‐human treated dentin matrix

Li, J., Yang, H., Lu, Q., Chen, D., Zhou, M., Kuang, Y., Ying, S., & Song, J. (2019) · Journal of Tissue Engineering and Regenerative Medicine · doi:10.1002/term.2866 · Cited by 23

Dynamic movement and turnover of extracellular matrices during tissue development and maintenance

Matsubayashi, Y. (2022) · Fly · doi:10.1080/19336934.2022.2076539 · Cited by 24

Carotid artery dissections: Thrombosis of the false lumen

Stevic, I., Chan, H. H. W., & Chan, A. K. C. (2011) · Thrombosis Research · doi:10.1016/j.thromres.2011.06.024 · Cited by 23

The extracellular matrix: an underexplored but important proteome

Wilson, R. (2010) · Expert Review of Proteomics · doi:10.1586/epr.10.93 · Cited by 23

Alterations in non-type I collagen biomarkers in osteogenesis imperfecta

Nicol, L. E., Morar, P., Wang, Y., Henriksen, K., Sun, S., Karsdal, M. A., Smith, R. C., Nagamani, S. C. S., Shapiro, J. R., Lee, B., et al. (2018) · Bone · doi:10.1016/j.bone.2018.09.024 · Cited by 23

Extensive CD34-to-CD90 Fibroblast Transition Defines Regions of Cutaneous Reparative, Hypertrophic, and Keloidal Scarring

Ho, J. D., Chung, H. J., Barron, A., Ho, D. A., Sahni, D., Browning, J. L., & Bhawan, J. (2018) · American Journal of Dermatopathology · doi:10.1097/dad.0000000000001254 · Cited by 22

Tissue, age, sex, and disease patterns of matrisome expression in GTEx transcriptome data

Nieuwenhuis, T. O., Rosenberg, A. Z., McCall, M. N., & Halushka, M. K. (2021) · Scientific Reports · doi:10.1038/s41598-021-00943-x · Cited by 21

An Additional Function of the Rough Endoplasmic Reticulum Protein Complex Prolyl 3-Hydroxylase 1·Cartilage-associated Protein·Cyclophilin B

Ishikawa, Y., & Bächinger, H. P. (2013) · Journal of Biological Chemistry · doi:10.1074/jbc.m113.498063 · Cited by 22

Identification of Two Independent COL5A1 Variants in Dogs with Ehlers–Danlos Syndrome

Bauer, A., Bateman, J. F., Lamandé, S. R., Hanssen, E. G., Kirejczyk, S. G. M., Yee, M., Ramiche, A., Jagannathan, V., Welle, M. M., Leeb, T., et al. (2019) · Genes · doi:10.3390/genes10100731 · Cited by 22

Analysis of human collagen sequences

Nassa, M., Anand, P., Jain, A., Chhabra, A., Jaiswal, A., Malhotra, U., & Rani, V. (2012) · Bioinformation · doi:10.6026/97320630008026 · Cited by 22

PERK-mediated translational control is required for collagen secretion in chondrocytes

Hisanaga, S., Miyake, M., Taniuchi, S., Oyadomari, M., Morimoto, M., Sato, R., Hirose, J., Mizuta, H., & Oyadomari, S. (2018) · Scientific Reports · doi:10.1038/s41598-017-19052-9 · Cited by 21

Label-Free Quantitative Proteomics Reveals Survival Mechanisms Developed by Hypertrophic Chondrocytes under ER Stress

Kudelko, M., Chan, C. W. L., Sharma, R., Yao, Q., Lau, E., Chu, I. K., Cheah, K. S. E., Tanner, J. A., & Chan, D. T.-M. (2015) · Journal of Proteome Research · doi:10.1021/acs.jproteome.5b00537 · Cited by 21

A laminin-based local regulatory network in the testis that supports spermatogenesis

Bu, T., Wang, L., Wu, X., Li, L., Mao, B., Wong, C. K. C., Perrotta, A. M., Silvestrini, B., Sun, F., & Cheng, C. Y. (2021) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2021.03.025 · Cited by 20

Lysyl hydroxylase 3–mediated post-translational modifications are required for proper biosynthesis of collagen α1α1α2(IV)

Ishikawa, Y., Taga, Y., Coste, T., Tufa, S. F., Keene, D. R., Mizuno, K., Tournier‐Lasserve, E., & Gould, D. B. (2022) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2022.102713 · Cited by 20

Tendon and motor phenotypes in the Crtap-/- mouse model of recessive osteogenesis imperfecta

Grol, M. W., Haelterman, N. A. T., Lim, J., Munivez, E. M., Archer, M., Hudson, D. M., Tufa, S. F., Keene, D. R., Lei, K., Park, D., et al. (2021) · eLife · doi:10.7554/elife.63488 · Cited by 20

Proteostasis Strategies for Restoring α1-Antitrypsin Deficiency

Bouchecareilh, M., Conkright, J. J., & Balch, W. E. (2010) · Proceedings of the American Thoracic Society · doi:10.1513/pats.201001-016aw · Cited by 21

ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type

Furuichi, T., Masuya, H., Murakami, T., Nishida, K., Nishimura, G., Suzuki, T., Imaizumi, K., Kudo, T., Ohkawa, K., Wakana, S., et al. (2011) · Mammalian Genome · doi:10.1007/s00335-011-9329-3 · Cited by 20

A High-Throughput Assay for Collagen Secretion Suggests an Unanticipated Role for Hsp90 in Collagen Production

Wong, M. Y., Doan, N. D., DiChiara, A. S., Papa, L. J., Cheah, J. H., Soule, C. K., Watson, N., Hulleman, J. D., & Shoulders, M. D. (2018) · Biochemistry · doi:10.1021/acs.biochem.8b00378 · Cited by 19

MAGP ‐1 and fibronectin control EGFL 7 functions by driving its deposition into distinct endothelial extracellular matrix locations

Villain, G., Lelièvre, E., Broekelmann, T. J., Gayet, O., Havet, C., Werkmeister, E., Mecham, R. P., Dusetti, N., Soncin, F., & Mattot, V. (2018) · FEBS Journal · doi:10.1111/febs.14680 · Cited by 19

Key roles of Arf small G proteins and biosynthetic trafficking for animal development

Rodrigues, F. F., & Harris, T. (2017) · Small GTPases · doi:10.1080/21541248.2017.1304854 · Cited by 19

Activation of Unfolded Protein Response in Transgenic Mouse Lenses

Reneker, L. W., Chen, H., & Overbeek, P. A. (2011) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.10-5650 · Cited by 17

Endoplasmic reticulum stress-mediated apoptosis contributes to a skeletal dysplasia resembling platyspondylic lethal skeletal dysplasia, Torrance type, in a novel Col2a1 mutant mouse line

Kimura, M., Ichimura, S., Sasaki, K., Masuya, H., Suzuki, T., Wakana, S., Ikegawa, S., & Furuichi, T. (2015) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2015.10.160 · Cited by 18

Cell-ECM Interactions in Repair and Regeneration

Petreaca, M. L., & Martins‐Green, M. M. (2010) · Elsevier eBooks · doi:10.1016/b978-0-12-381422-7.10002-1 · Cited by 18

Therapeutic nanocarriers comprising extracellular matrix-inspired peptides and polysaccharides

Dunshee, L. C., Sullivan, M. O., & Kiick, K. L. (2021) · Expert Opinion on Drug Delivery · doi:10.1080/17425247.2021.1988925 · Cited by 18

De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome

Faivre, L. O., Kien, P. K. V., Callier, P., Pallarès-Ruiz, N., Baudoin, C., Plancke, A., Wolf, J., Thauvin‐Robinet, C., Durand, E., Minot, D., et al. (2010) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2010.05.002 · Cited by 17

Endoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types II and X

Gawron, K. (2016) · Cell Stress and Chaperones · doi:10.1007/s12192-016-0719-z · Cited by 19

Insight into the Pathology of a COL1A1 Signal Peptide Heterozygous Mutation Leading to Severe Osteogenesis Imperfecta

Lindert, U., Gnoli, M., Maioli, M., Bedeschi, M. F., Sangiorgi, L., Rohrbach, M., & Giunta, C. (2017) · Calcified Tissue International · doi:10.1007/s00223-017-0359-z · Cited by 17

Matrix Metalloproteinases Inhibition by Doxycycline Rescues Extracellular Matrix Organization and Partly Reverts Myofibroblast Differentiation in Hypermobile Ehlers-Danlos Syndrome Dermal Fibroblasts: A Potential Therapeutic Target?

Chiarelli, N., Zoppi, N., Venturini, M., Capitanio, D., Gelfi, C., Ritelli, M., & Colombi, M. (2021) · Cells · doi:10.3390/cells10113236 · Cited by 19

Chinese family with diffuse oesophageal leiomyomatosis: a new COL4A5/COL4A6 deletion and a case of gonosomal mosaicism

Liu, W., Wong, J. K., He, Q., Wong, E. H., Tang, C. S.-M., Zhang, R., So, M.-T., Wong, K. K., Nicholls, J. M., Cherny, S. S., et al. (2015) · BMC Medical Genetics · doi:10.1186/s12881-015-0189-7 · Cited by 16

Pulse-chase analysis of procollagen biosynthesis by azidohomoalanine labeling

Mirigian, L. S., Makareeva, E., & Leikin, S. (2014) · Connective Tissue Research · doi:10.3109/03008207.2014.959120 · Cited by 16

YAP/TAZ Related BioMechano Signal Transduction and Cancer Metastasis

Martinez, B., Yang, Y., Harker, D. M. R., Farrar, C. R., Mukundan, H., Nath, P., & Mascareñas, D. (2019) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2019.00199 · Cited by 16

Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3

Bizzari, S., El-Bazzal, L., Nair, P., Younan, A., Stora, S., Mehawej, C., El‐Hayek, S., Delague, V., & Mégarbané, A. (2020) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2020.103869 · Cited by 16

Genetic Disorders of the Extracellular Matrix

Lamandé, S. R., & Bateman, J. F. (2019) · The Anatomical Record · doi:10.1002/ar.24086 · Cited by 108

The extracellular matrix as a multitasking player in disease

Theocharis, A. D., Manou, D., & Karamanos, N. K. (2019) · FEBS Journal · doi:10.1111/febs.14818 · Cited by 533

The Extracellular Matrix Across States: From Homeostasis to Dysfunction in Rare Connective Tissue Disorders

Diana, R., Gulberti, S., & Bui, C. (2026) · Proteoglycan Research · doi:10.1002/pgr2.70047

Inherited Connective Tissue Disorders of Collagens: Lessons from Targeted Mutagenesis

Bonod‐Bidaud, C., & Ruggiero, F. (2013) · InTech eBooks · doi:10.5772/50858 · Cited by 8

Genetic diseases of the extracellular matrix: more than just connective tissue disorders

Bruckner‐Tuderman, L., & Brückner, P. (1998) · Journal of Molecular Medicine · doi:10.1007/s001090050213 · Cited by 42