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

Molecular Basis of Pathogenic Variants in the Fibrillar Collagens

Richards, A. J., & Snead, M. P. (2022) · Genes · doi:10.3390/genes13071199 · Cited by 15

Ehlers-Danlos Syndromes, Joint Hypermobility and Hypermobility Spectrum Disorders

Micale, L., Fusco, C., & Castori, M. (2021) · Advances in experimental medicine and biology · doi:10.1007/978-3-030-80614-9_9 · Cited by 17

EXTRACTION AND PARTIAL CHARACTERIZATION OF COLLAGEN FROM DIFFERENT ANIMAL SKINS

Quereshi, S., Mhaske, A., Raut, D., Singh, R., Mani, A., & Patel, J. (2010) · Recent Research in Science and Technology · Cited by 15

Material-driven fibronectin assembly rescues matrix defects due to mutations in collagen IV in fibroblasts

Mpoyi, E. N., Cantini, M., Sin, Y. Y., Fleming, L., Zhou, D. W., Costell, M., Lu, Y., Kadler, K. E., Garcı́a, A. J., Agtmael, T. V., et al. (2020) · Biomaterials · doi:10.1016/j.biomaterials.2020.120090 · Cited by 16

A review on regulation of cell cycle by extracellular matrix

Rais, A., Husain, A., Hasan, G. M., & Hassan, M. I. (2023) · International Journal of Biological Macromolecules · doi:10.1016/j.ijbiomac.2023.123426 · Cited by 12

Eight mutations including 5 novel ones in the COL1A1 gene in Czech patients with osteogenesis imperfecta

Hrušková, L., Fijałkowski, I., Hul, W. V., Mařík, I. A., Mortier, G. R., Pavel Martasek, E., & Mazura, I. (2016) · Biomedical Papers · doi:10.5507/bp.2016.022 · Cited by 12

The novel missense mutation Met48Lys in FKBP22 changes its structure and functions

Ishikawa, Y., Mizuno, N., Holden, P. K., Lim, P. J., Gould, D. B., Rohrbach, M., Giunta, C., & Bächinger, H. P. (2020) · Scientific Reports · doi:10.1038/s41598-019-57374-y · Cited by 12

Mechanics of the cell: Interaction mechanisms and mechanobiological models

Liebman, C., McColloch, A. R., Rabiei, M., Bowling, A. P., & Cho, M. (2020) · Current topics in membranes · doi:10.1016/bs.ctm.2020.09.001 · Cited by 13

A new role for laminins as modulators of protein toxicity in Caenorhabditis elegans

Jensen, L. T., Møller, T. H., Larsen, S. A., Jakobsen, H., & Olsen, A. (2011) · Aging Cell · doi:10.1111/j.1474-9726.2011.00767.x · Cited by 11

Distinct function of P63 isoforms during embryonic skeletal development

Lu, Y., Abbassi, S., Li, F., Ding, M., Wu, G., Gu, J., & Zheng, Q. (2013) · Gene · doi:10.1016/j.gene.2013.02.021 · Cited by 11

Proprotein convertases regulate trafficking and maturation of key proteins within the secretory pathway

Cendron, L., Rothenberger, S., Cassari, L., Dettin, M., & Pasquato, A. (2022) · Advances in protein chemistry and structural biology · doi:10.1016/bs.apcsb.2022.10.001 · Cited by 12

Ultrastructural scoring of skin biopsies for diagnosis of vascular Ehlers–Danlos syndrome

Ong, K.-T., Plauchu, H., Peyrol, S., Roux, É., Errazuriz-Cerda, E., Kien, P. K. V., Arbeille, B., Gaulier, A., Georgescou, G., Collignon, P., et al. (2012) · Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · doi:10.1007/s00428-012-1233-z · Cited by 13

The Extracellular Matrix Goes -Omics: Resources and Tools

Naba, A., & Ricard‐Blum, S. (2020) · Biology of extracellular matrix · doi:10.1007/978-3-030-58330-9_1 · Cited by 10

TMEM39A and TMEM131 facilitate bulk transport of ECM proteins through large COPII vesicle formation

Sung, J. Y., Lim, G.-E., Goo, J., Jung, K. J., Chung, J. M., Jung, H. S., Kim, Y.-N., & Shim, J. (2024) · Journal of genetics and genomics/Journal of Genetics and Genomics · doi:10.1016/j.jgg.2024.10.013 · Cited by 8

Development of the mechanoresponsive pericellular matrix of chondrons

Lee, D.-H., Greer, S. E., & Dudley, A. T. (2025) · Science Advances · doi:10.1126/sciadv.ado6644 · Cited by 9

Alteration of lens and retina textures from mice embryos with folic acid deficiency: image processing analysis

Sijilmassi, O., López-Alonso, J. M., Asensio, M. D. C. B., & Sevilla, A. D. R. (2018) · Graefe s Archive for Clinical and Experimental Ophthalmology · doi:10.1007/s00417-018-4176-5 · Cited by 9

Resveratrol reliefs DEHP-induced defects during human decidualization

Long, C., Li, Z., Liang, S., Yao, S., Zhu, S., Lü, L. T., Cao, R., Chen, Y., Huang, Y., Ma, Y., et al. (2023) · Ecotoxicology and Environmental Safety · doi:10.1016/j.ecoenv.2023.114931 · Cited by 9

The CMS19 disease model specifies a pivotal role for collagen XIII in bone homeostasis

Kemppainen, A., Finnilä, M., Heikkinen, A., Härönen, H., Izzi, V., Kauppinen, S., Saarakkala, S. S., Pihlajaniemi, T. A., & Koivunen, J. T. (2022) · Scientific Reports · doi:10.1038/s41598-022-09653-4 · Cited by 9

The effect of carbamazepine on bone structure and strength in control and osteogenesis imperfecta ( Col1a2 +/p.G610C ) mice

Blank, M., McGregor, N. E., Rowley, L., Kung, L. H. W., Crimeen‐Irwin, B., Poulton, I. J., Walker, E. C., Gooi, J. H., Lamandé, S. R., Sims, N. A., et al. (2022) · Journal of Cellular and Molecular Medicine · doi:10.1111/jcmm.17437 · Cited by 9

DNA damage in human glomerular endothelial cells induces nodular glomerulosclerosis via an ATR and ANXA2 pathway

Fujii, A., Sunatani, Y., Furuichi, K., Fujimoto, K., Adachi, H., Iwabuchi, K., & Yokoyama, H. (2020) · Scientific Reports · doi:10.1038/s41598-020-79106-3 · Cited by 10

Evaluation of immunohistopathological profile of tubular and solid canine mammary carcinomas

Borghesi, J., da Silva, M. G. K. C., Guimarães, K. D. O. P., Mario, L. C., da Anunciação, A. R. D. A., Rabêlo, A. C. S., Hayashi, R. G., Lima, M. F., Miglino, M. A., Favaron, P. O., et al. (2021) · Research in Veterinary Science · doi:10.1016/j.rvsc.2021.02.004 · Cited by 9

Aortic Wall Degeneration in Aortic Aneurysms. Pathological and Molecular Insights

Costa, D., Andreucci, M., Ielapi, N., Accarino, G., Bracale, U. M., & Serra, R. (2025) · Annals of Vascular Surgery · doi:10.1016/j.avsg.2025.10.002 · Cited by 8

SOFT Syndrome: The First Case in Iran

Mostofizadeh, N., Gheidarloo, M., Hashemipour, M., & Dehkordi, E. H. (2018) · Advanced Biomedical Research · doi:10.4103/abr.abr_13_18 · Cited by 8

NC1-peptide derived from collagen α3 (IV) chain is a blood-tissue barrier regulator

Liu, S., Li, H.-T., Ge, R.-S., & Cheng, C. Y. (2020) · Asian Journal of Andrology · doi:10.4103/aja.aja_44_20 · Cited by 8

Collagen IV-Related Diseases and Therapies

Dean, A., & Agtmael, T. V. (2021) · Biology of extracellular matrix · doi:10.1007/978-3-030-67592-9_5 · Cited by 7

The Multiple Faces of Integrin–ECM Interactions in Inflammatory Bowel Disease

Garlatti, V., Lovisa, S., Danese, S., & Vetrano, S. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms221910439 · Cited by 9

Cell–Extracellular Matrix Interactions in Repair and Regeneration

Petreaca, M. L., & Martins‐Green, M. M. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-809880-6.00002-3 · Cited by 8

Expression of lysyl hydroxylases and characterization of a novel disorder caused by mutations in the lysyl hydroxylase 3 gene

Salo, A. M. (2009) · Cited by 8

A monoallelic variant in CCN2 causes an autosomal dominant spondyloepimetaphyseal dysplasia with low bone mass

Li, S., Shao, R., Li, S., Zhao, J., Deng, Q., Li, P., Wei, Z., Xu, S., Chen, L., Li, B., et al. (2024) · Bone Research · doi:10.1038/s41413-024-00364-2 · Cited by 7

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

Immune‐related matrisomes are potential biomarkers to predict the prognosis and immune microenvironment of glioma patients

Yu, H., Wang, M., Wang, X., & Jiang, X. (2022) · FEBS Open Bio · doi:10.1002/2211-5463.13541 · Cited by 7

Deciphering disease signatures and molecular targets in vascular Ehlers-Danlos syndrome through transcriptome and miRNome sequencing of dermal fibroblasts

Chiarelli, N., Cinquina, V., Martini, P. G. V., Bertini, V., Zoppi, N., Venturini, M., Ritelli, M., & Colombi, M. (2023) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2023.166915 · Cited by 7

The Use of Hydrogels as Biomimetic Materials for 3D Cell Cultures

Du, E. Y., Martin, A. D., Heu, C., & Thordarson, P. (2016) · Australian Journal of Chemistry · doi:10.1071/ch16241 · Cited by 7

Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia

Tariq, M., Khan, T. N., Lundin, L., Jameel, M., Lönnerholm, T., Baig, S. M., Dahl, N., & Klar, J. (2017) · Clinical Genetics · doi:10.1111/cge.13091 · Cited by 7

ADAMTS5 deficiency in mice does not affect cardiac function

Hemmeryckx, B., Carai, P., & LIJNEN, H. R. (2019) · Cell Biology International · doi:10.1002/cbin.11130 · Cited by 7

Immunolocalisation of fibrillin microfibrils in the calf metacarpal and vertebral growth plate

Yu, J., & Urban, J. P. G. (2013) · Journal of Anatomy · doi:10.1111/joa.12123 · Cited by 7

Agrin Loss in Barrett's Esophagus-Related Neoplasia and Its Utility as a Diagnostic and Predictive Biomarker

Rickelt, S., Neyaz, A., Condon, C., Whittaker, C. A., Zaidi, A. H., Taylor, M. S., Abbruzzese, G., Mattia, A. R., Zukerberg, L., Shroff, S. G., et al. (2021) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-21-2822 · Cited by 6

Systemic changes induced by autologous stem cell ovarian transplant in plasma proteome of women with impaired ovarian reserves

Buigues, A., Ramírez-Martín, N., Martínez, J., Pellicer, N., Meseguer, M., Pellicer, A., & Herraiz, S. (2023) · Aging · doi:10.18632/aging.205400 · Cited by 6

Production and crystallization of the C-propeptide trimer from human procollagen III

Bourhis, J., Mariano, N., Zhao, Y., Walter, T. S., Omari, K. E., Delolme, F., Moali, C., HULMES, D. J. S., & Aghajari, N. (2012) · Acta Crystallographica Section F Structural Biology and Crystallization Communications · doi:10.1107/s1744309112035294 · Cited by 6

Stiff and Tight Skin: A Rear Window into Fibrosis Without Inflammation

Avvedimento, E. V., & Gabrielli, A. (2010) · Science Translational Medicine · doi:10.1126/scitranslmed.3000949 · Cited by 6

I.C. Hereditary Vitreo-Retinopathies

Snead, M. P., & Richards, A. J. (2014) · Springer eBooks · doi:10.1007/978-1-4939-1086-1_3 · Cited by 6

Bone matrix proteins: regulators of skeletal remodeling and repair

Chen, T., Chu, P., Guo, J., & Shen, B. (2026) · Journal of Bone and Mineral Metabolism · doi:10.1007/s00774-026-01708-0 · Cited by 5

The dynamics of cell–extracellular matrix interactions, with implications for tissue engineering

Petreaca, M. L., & Martins‐Green, M. M. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-818422-6.00007-1 · Cited by 7

Local Net Charge State of Collagen Triple Helix Is a Determinant of FKBP22 Binding to Collagen III

Ishikawa, Y., Bonna, A., Gould, D. B., & Farndale, R. W. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms242015156 · Cited by 5

Polynucleotide HPTTM-Based Hydrogels Exhibit Scavenging Activity Against Reactive Oxygen Species

Colangelo, M. T., Belletti, S., Guizzardi, S., & Galli, C. (2025) · Antioxidants · doi:10.3390/antiox14091089 · Cited by 5

Aptamer-functionalized biomaterials for bone-related diseases therapy

Li, Q., & Zhang, M. (2025) · Cell Biomaterials · doi:10.1016/j.celbio.2025.100272 · Cited by 4

Decreased expression of GEM in osteoarthritis cartilage regulates chondrogenic differentiation via Wnt/β-catenin signaling

Gan, L., Deng, Z., Wei, Y., Li, H., & Zhao, L. (2023) · Journal of Orthopaedic Surgery and Research · doi:10.1186/s13018-023-04236-z · Cited by 4

Thoracic Aortic Disease in Patients With Heterozygous Variants Outside the Central Region of FBN2

Demal, T. J., Sachse, M., Metzlaff, C., Schüler, H., Szöcs, K., Olfe, J., Stark, V. C., Frommolt, P., Kodolitsch, Y. V., Mir, T. S., et al. (2025) · Circulation Genomic and Precision Medicine · doi:10.1161/circgen.124.004672 · Cited by 4

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) · DSpace@MIT (Massachusetts Institute of Technology) · Cited by 4

A Framework for Investigating Rules of Life by Establishing Zones of Influence

Lawing, A. M., McCoy, M. W., Reinke, B. A., Sarkar, S. K., Smith, F. A., & Wright, D. (2021) · Integrative and Comparative Biology · doi:10.1093/icb/icab169 · Cited by 4

Agrin loss in Barrett's esophagus-related neoplasia and its utility as a diagnostic and predictive biomarker

Rickelt, S., Neyaz, A., Condon, C., Whittaker, C. A., Zaidi, A. H., Taylor, M. S., Abbruzzese, G., Mattia, A. R., Zukerberg, L. R., Shroff, S. G., et al. (2022) · DSpace@MIT (Massachusetts Institute of Technology) · Cited by 4

ECMPride: prediction of human extracellular matrix proteins based on the ideal dataset using hybrid features with domain evidence

Liu, B., Leng, L., Sun, X., Wang, Y., Ma, J., & Zhu, Y. (2020) · PeerJ · doi:10.7717/peerj.9066 · Cited by 4

A Complete and Versatile Protocol: Decoration of Cell-Derived Matrices with Mass-Encoded Peptides for Multiplexed Protease Activity Detection

Dodt, K., Drießen, M. D., Lamer, S., Schlösser, A., Lühmann, T. C., & Meinel, L. (2020) · ACS Biomaterials Science & Engineering · doi:10.1021/acsbiomaterials.0c01134 · Cited by 4

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

Barqué, A., Jan, K., Fuente, E. D. L., Nicholas, C. L., Hynes, R. O., & Naba, A. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/440081 · Cited by 4

DAG1, no gene for RNA regulation?

Brancaccio, A. (2012) · Gene · doi:10.1016/j.gene.2012.01.046 · Cited by 3

Inflammation-Independent Mechanisms of Intestinal Fibrosis: The Role of the Extracellular Matrix

Laukens, D. (2018) · Springer eBooks · doi:10.1007/978-3-319-90578-5_6 · Cited by 3

Cartilage Collagens and Associated Disorders

Hansen, U. J. (2021) · Biology of extracellular matrix · doi:10.1007/978-3-030-67592-9_4 · Cited by 3

ER procollagen storage defect without coupled unfolded protein response drives precocious arthritis

Yammine, K. M., Abularach, S. M., Xiong, M., Kim, S.-Y., Bikovtseva, A. A., Butty, V. L., Schiavoni, R. P., Bateman, J. F., Lamandé, S. R., & Shoulders, M. D. (2024) · Life Science Alliance · doi:10.26508/lsa.202402842 · Cited by 3

Biallelic and monoallelic variants in EFEMP1 can cause a severe and distinct subtype of heritable connective tissue disorder

Mol, M. O., van Ham, T. J., Bannink, N., Brüggenwirth, H. T., Escher, J. C., Kros, J. M., Renkens, J. J. M., van Unen, L., Verdijk, R. M., Vlot, J., et al. (2024) · European Journal of Human Genetics · doi:10.1038/s41431-024-01692-x · Cited by 3

Trichothiodystrophy

Orioli, D., & Stefanini, M. (2018) · Springer eBooks · doi:10.1007/978-981-10-6722-8_10 · Cited by 3

Cross-platform meta-analysis reveals common matrisome variation associated with tumor genotypes and immunophenotypes in human cancersPreprint

Lim, S. B., Tan, S. J., Lim, W., & Lim, C. T. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/353706 · Cited by 3

The Mouse MC13 Mutant Is a Novel ENU Mutation in Collagen Type II, Alpha 1

Cionni, M., Menke, C. A., & Stottmann, R. W. (2014) · PLoS ONE · doi:10.1371/journal.pone.0116104 · Cited by 2

DNA methylation changes in extracellular remodeling pathway genes during the transformation of human mesenchymal stem cells

Kim, T. O., Park, S.-H., Kim, H., Ahuja, N., & Yi, J. M. (2016) · Genes & Genomics · doi:10.1007/s13258-016-0402-x · Cited by 2

Comparative analysis of the viscoelastic properties of collagen-like proteins by virtual creep test

Ghanaeian, A., & Soheilifard, R. (2020) · Journal of Biomolecular Structure and Dynamics · doi:10.1080/07391102.2020.1753578 · Cited by 2

Extracellular Matrix in Stroke

Yao, Y. (2018) · Springer series in translational stroke research · doi:10.1007/978-3-319-90194-7_8 · Cited by 2

Gene cloning to clinical trials—the trials and tribulations of a life with collagen

Boot-Handford, R. (2019) · International Journal of Experimental Pathology · doi:10.1111/iep.12311 · Cited by 2

Epidermolysis Bullosa

Has, C., Bruckner‐Tuderman, L., & Uitto, J. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-383834-6.00156-7 · Cited by 2

The Extracellular Matrix

Rovensky, Y. A. (2011) · Humana Press eBooks · doi:10.1007/978-1-61779-304-2_2 · Cited by 2

Cell–ECM Interactions in Repair and Regeneration

Petreaca, M. L., & Martins‐Green, M. M. (2012) · Elsevier eBooks · doi:10.1016/b978-0-12-385942-6.00017-2 · Cited by 3

The life course development of non-cognitive skills and health inequalities

Carter, J. L. (2015) · Research Portal (King's College London) · Cited by 1

XBP1s-Mediated ER Proteostasis Network Enhancement Can Selectively Improve the Folding and Secretion of an Osteogenesis Imperfecta-Causing Collagen-I VariantPreprint

DiChiara, A. S., Doan, N., Bikovtseva, A. A., Rowley, L., Butty, V. L., Weis, M., Eyre, D. R., Lamandé, S. R., Bateman, J. F., & Shoulders, M. D. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.04.15.439909 · Cited by 2

Single-cell analysis of matrisome-related genes in breast invasive carcinoma: new avenues for molecular subtyping and risk estimation

Su, L., Wang, Z., Cai, M., Wang, Q., Wang, M., Yang, W., Gong, Y., Fang, F., & Xu, L. (2024) · Frontiers in Immunology · doi:10.3389/fimmu.2024.1466762 · Cited by 2

A proposed nosology of inherited disorders of the extracellular matrix (ECM): Insights from the IEMbase and dyadic classification

Giunta, C., Marcionelli, G., Ferreira, C. R., Blau, N., & Rohrbach, M. (2025) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2025.109288 · Cited by 1

Unique structural features of the pentameric matrix protein COMP sustain its dynamic regulation of extra- and intracellular activities: A review

Boiardi, E., Demmi, S., Tittaferrante, G., Lazzaretti, M., Malpeli, G., Brancolini, G., & Perris, R. (2025) · International Journal of Biological Macromolecules · doi:10.1016/j.ijbiomac.2025.149728 · Cited by 1

Alport Syndrome and Other Collagen Disorders

Rheault, M. N. (2019) · Springer eBooks · doi:10.1007/978-3-319-49379-4_11 · Cited by 1

In silico analyses of human collagen protein function prediction

Ahmed, S., Kamruzzaman, M., Rana, M. M., Akond, Z., & Mollah, M. (2018) · Journal of Bio-Science · doi:10.3329/jbs.v24i0.37487 · Cited by 1

Osteogenesis Imperfecta

Morello, R., & Paul, W. (2012) · InTech eBooks · doi:10.5772/34775 · Cited by 1

RNAi screening for modulators of an osmo-sensitive gene response to extracellular matrix damage reveals negative feedback and interactions with translation inhibition

Chandler, L. M., Rodriguez, M. J., & Choe, K. P. (2023) · PLoS ONE · doi:10.1371/journal.pone.0285328 · Cited by 1

Sequence Alterations in the Carboxyl-Terminal Propeptide Domain

Malfait, F., Symoens, S., & Paepe, A. D. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-397165-4.00013-7 · Cited by 1

Molecular Genetics of the Cartilage Collagenopathies

Lamandé, S. R., Cameron, T. L., Savarirayan, R., & Bateman, J. F. (2017) · Springer eBooks · doi:10.1007/978-3-319-45803-8_6 · Cited by 1

Skeletal Dysplasias

Zankl, A., Briggs, M., & Bateman, J. F. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-804182-6.00027-7 · Cited by 2

Aggrecan, IL-1β, IL-6, and TNF-α profiles in the Articular Cartilage of Miniature Horses with Chondrodysplastic Dwarfism

Basso, R. M., de Andrade, D. G. A., Fonseca‐Alves, C. E., Amorim, R. L., Borges, A. S., & Oliveira-Filho, J. P. (2021) · Journal of Equine Veterinary Science · doi:10.1016/j.jevs.2021.103643 · Cited by 1

SURO-2/TMEM39 Facilitates Collagen Secretion through the Formation of Large COPII VesiclesPreprint

Lee, K., Sung, J. Y., Lee, S., Lim, G., Jung, K., Chung, J., Jung, H., Kim, Y., & Shim, J. (2020) · doi:10.21203/rs.3.rs-35924/v1 · Cited by 1

Hereditary Nephritis in Children

Savige, J. (2022) · doi:10.1002/9781119105954.ch69 · Cited by 1

Pain, pain management, and quality of life in Ehlers-Danlos related disorders

Dawson, T. A. (2014) · D-Scholarship@Pitt (University of Pittsburgh)

Generation and Characterization of Knockout Mice and Analysis of Patient Material Demonstrates a Role for Tissue Inhibitor of Metalloproteinases 4 (Timp4) in the Cardiovascular System and Tumor Metastasis

Koskivirta, I. (2012) · UTUPub (University of Turku)

Marfan syndrome presenting with cervical tortuous arteries and subcortical hemorrhage: a case with a mutation in an intron of the FBN1 gene

Neshige, S., Takeshima, S., Himeno, T., Yoshimoto, T., Takamatsu, K., 森崎, 裕., & Kuriyama, M. (2014) · Rinsho Shinkeigaku · doi:10.5692/clinicalneurol.54.897

The Extracellular Matrix

Meisenberg, G., & Simmons, W. H. (2012) · Elsevier eBooks · doi:10.1016/b978-0-323-07155-0.00014-9

Development of an osteoblast cell culture system for functional characterization and comparative analyses of mouse models with bone phenotypes and systemic investigation of an Osteogenesis imperfecta disease model

Thiele, F. (2009) · Site cant be reached

Ocular Manifestations of Musculoskeletal Disorders

Clarke, M. W., Wong, G.-Y., & Hogg, H. D. J. (2017) · Springer eBooks · doi:10.1007/978-3-319-18389-3_14

Self-assembly of conducting polymer nanomaterials for bionic applications

Ho, D. (2015) · UWA Profiles and Research Repository (UWA)

The potential role of collagens in congenital Zika syndrome: A systems biology approachPreprint

Aguiar, R. S., Pohl, F. B., de Morais, G. L., Nogueira, F. C. S., de Carvalho, J. B., Guida, L. D. C., Arge, L. W., Melo, A., Moreira, M. E., Cunha, D. P., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/541268

Bioengineering The Fracture Callus: Bone Repair Through Fracture Mimetics

Vas, W. J. (2019) · UCL Discovery (University College London)

Interação entre células tronco de membrana amniótica e tumor mamário canino in vitro

Borghesi, J. (2019) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.10.2019.tde-09092019-103106

Análisis molecular de las relaciones entre hiperlipidemia y fibrosis vascular

Serrano-García, L., Asenjo‐Bueno, A., Henández-López, K., Alcalde‐Estévez, E., Plaza, P., Sosa, P., Olmos, G., Ruiz‐Torres, M. P., & López‐Ongil, S. (2019) · Dianas · doi:10.37536/dianas.2019.8.2.49

The Arf GAP Asap regulates cleavage furrow biosynthesis in the early Drosophila embryo

Rodrigues, F. F. (2017) · TSpace (University of Toronto)

The Role of Late Embryogenesis-Abundant Proteins in Desiccation-Induced Apoptosis

Poznic, B. S. (2014) · The Keep (Eastern Illinois University)

Sex, age, tissue, and disease patterns of matrisome expression in GTEx transcriptome dataPreprint

Nieuwenhuis, T. O., Rosenberg, A. Z., McCall, M. N., & Halushka, M. K. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.03.09.434609

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

Liu, S. D. (2014)

Procollagen Trafficking and its Implications in Osteogenesis Imperfecta

Omari, S., Makareeva, E., & Leikin, S. (2021) · Biology of extracellular matrix · doi:10.1007/978-3-030-67592-9_2 · Cited by 1

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