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

Immune-Related Matrisomes are Potential Biomarkers to Predict the Prognosis and Immune Microenvironment of Glioma Patients Through Bioinformatics Analysis and Experimental VerificationPreprint

Yu, H., Wang, M., Wang, X., & Jiang, X. (2021) · Research Square · doi:10.21203/rs.3.rs-1087869/v1

Current World Literature

(2009) · Current Opinion in Endocrinology Diabetes and Obesity · doi:10.1097/med.0b013e3283339a46

Alport Syndrome and Other Collagen Disorders

Rheault, M. N. (2017) · Springer eBooks · doi:10.1007/978-3-319-27334-1_11-1

Immune-related matrisomes are potential biomarkers to predict the prognosis and immune microenvironment of glioma patients through bioinformatics analysis and experimental verificationPreprint

Jiang, X., Yu, H., Wang, M., & Wang, X. (2022) · Research Square · doi:10.21203/rs.3.rs-1087869/v2

Peer Review #2 of "ECMPride: prediction of human extracellular matrix proteins based on the ideal dataset using hybrid features with domain evidence (v0.1)"

(2020) · PeerJ · doi:10.7287/peerj.9066v0.1/reviews/2

Faculty Opinions recommendation of Impaired lymphoid extracellular matrix impedes antibacterial immunity in epidermolysis bullosa.

Tolar, J., & Keith, A. R. (2020) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.732404522.793575485

Faculty Opinions recommendation of 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.

Briggs, M. D. (2020) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.730230409.793573479

Peer Review #1 of "ECMPride: prediction of human extracellular matrix proteins based on the ideal dataset using hybrid features with domain evidence (v0.1)"

(2020) · PeerJ · doi:10.7287/peerj.9066v0.1/reviews/1

Peer Review #1 of "ECMPride: prediction of human extracellular matrix proteins based on the ideal dataset using hybrid features with domain evidence (v0.2)"

(2020) · PeerJ · doi:10.7287/peerj.9066v0.2/reviews/1

Peer Review #2 of "ECMPride: prediction of human extracellular matrix proteins based on the ideal dataset using hybrid features with domain evidence (v0.2)"

(2020) · PeerJ · doi:10.7287/peerj.9066v0.2/reviews/2

Faculty Opinions recommendation of PERK-mediated translational control is required for collagen secretion in chondrocytes.

Briggs, M. D. (2020) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.732499433.793573476

Tuneable 3D biocompatible scaffolds for biological and biophysical solid-tumour microenvironment studies; applications in Ovarian Cancer

Paradiso, F. (2022) · Cronfa (Swansea University) · doi:10.23889/suthesis.60122

Data from 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. (2023) · doi:10.1158/1078-0432.c.6531101

Establishment of an in vitro system to screen for substances to improve osteogenesis imperfecta osteoblasts’ functions

Udomchaiprasertkul, W. (2018) · doi:10.58837/chula.the.2018.27

Expression Profiling of ADAMTS (L) Superfamily of Genes in Various Human Eye Tissues

Suri, F., Biginaloo, A., Ghadimi, M., Banadaki, H. D., Paylakhi, S., & Kanavi, M. R. (2023) · Iranian Journal of Public Health · doi:10.18502/ijph.v52i12.14324

Carbohydrates and human glycosylation

Oommen, A. M., Gill, S. K., Joshi, L., & Cunningham, S. (2024) · Elsevier eBooks · doi:10.1016/b978-0-12-819655-7.00016-3

Amaurosis fugax in Marfan syndrome with myxomatous degeneration

Sato, T., Satake, M., Iitsuka, H., Mimori, M., Umehara, T., Takeuchi, C., & Iguchi, Y. (2024) · Rinsho Shinkeigaku · doi:10.5692/clinicalneurol.cn-001987

Collagen II Mutations in Inherited Cartilage Disease: Our Current Understanding of Genotype-Phenotype Correlations

Bateman, J. F., & Lamandé, S. R. (2024) · Biology of extracellular matrix · doi:10.1007/978-3-031-70835-0_4

Chondrocalcin: Insights into its regulation and multi-function in cartilage and bone

Zhu, W., Zhao, Z., Yuwen, W., Qu, L., Duan, Z., Zhu, C., & Fan, D. (2025) · Differentiation · doi:10.1016/j.diff.2025.100861

Current perspectives on gene therapy and its involvement in curing genetic disorders

Nishad, S., Dongare, D. B., Saha, S., Anil, R. D., Srivastava, N., & Dey, A. (2025) · Human Genetics · doi:10.1007/s00439-025-02757-7

Epidermolysis bullosa simplex: genotype-phenotype correlations

Chikin, V. V., & Karamova, A. Е. (2025) · Vestnik dermatologii i venerologii · doi:10.25208/vdv16909

Molecular Mechanisms Controlling Guided Germ Cell Migration in Zebrafish

Boldajipour, B. A. (2009) · eDiss (Georg-August-Universität Göttingen) · doi:10.53846/goediss-3274

Role of Sox trio, Nfi and Hmgb1 factors in the unique transcriptional regulatory mechanisms of the matrilin-1 gene

Szénási, T. (2014) · doi:10.14232/phd.2228

Additional file 1 of 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. (2024) · Figshare · doi:10.6084/m9.figshare.26622607

Evidence of compensatory elastin remodeling in non-prolapsed uterosacral ligaments and its divergence in histopathological subtypes of pelvic organ prolapse

Orlicky, D. J., Smith, E. E., Kuhn, A., DuBois, H., Hilton, A. E., Grado, L., Guess, M. K., Rascoff, L. G., Arruda, J., Hutchinson-Colas, J. A., et al. (2026) · BMC Women s Health · doi:10.1186/s12905-026-04273-w

A damaging mutation in COL6A3 alters the mechanobiologic response of chondrocytes derived from human induced pluripotent stem cells

Harissa, Z., Bloks, N. G. C., Steward, N. S., Tufa, S. F., Keene, D. R., Ramos, Y. F., Meulenbelt, I., & Guilak, F. (2026) · Stem Cell Research & Therapy · doi:10.1186/s13287-026-04940-7

A novel MMP13 frameshift variant causes short stature via enhanced MMP13–HSPA5 interaction and activated endoplasmic reticulum stress

Lu, H., Feng, X., 戴素萍, Zhu, Y., Yuan, K., Chen, Y., Zhu, J., Fang, Y., Yan, Q., & Wang, C. (2026) · Clinical and Translational Medicine · doi:10.1002/ctm2.70648

Une nouvelle mutation du collagène V conduisant, chez le patient, à des atteintes cutanées et musculaires

Badara, S. N. (2016) · theses.fr (ABES) · doi:10.70675/4c7f6348zf660z439cz836fz8324fff72f95

Investigation des mécanismes moléculaires impliqués dans les anomalies du développement ostéoarticulaire chez la souris invalidée pour le gène de la Xylosyltransférase I

Taieb, M. (2019) · doi:10.70675/24e19906z62fdz4ca6z9c80zd97eecd21db7

Production et caractérisation d'un substitut dermique humain pour étudier la réponse de la matrice extracellulaire dans les phénomènes d'électroporation

Madi, M. (2017) · doi:10.70675/f110e90fz9041z4178zafe4zabdc3f58f1fd

Elucidation du rôle de la Ténascine-X dans la progression tumorale : focus sur la carcinogenèse pancréatique

Liot, S. (2021) · theses.fr (ABES) · doi:10.70675/264bf0e9z97a7z4aaezaf51z5387f0dd8f4c

Caractérisation d'un défaut cutanéo-muqueux et osseux chez le minipig et mise au point d'un protocole de thérapie cellulaire

Duong, L. T. (2023) · theses.fr (ABES) · doi:10.70675/5a282c32z0ad0z46e9z843dz815369bf0766

Minigene Assays Validate That Four Synonymous Variants Associated with X-Linked Alport Syndrome Alter the Splicing of the Collagen IV α5 Gene

崔, 巧. (2026) · Advances in Clinical Medicine · doi:10.12677/acm.2026.1651876

ECMME: an atlas of selection pressures on the mammalian extracellular matrix reveals contrasting evolutionary dynamicsPreprint

Petrov, P. B., Oshinjo, A. M., Röning, J., & Izzi, V. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.06.08.730821

Multidimensional spatial mapping of extracellular matrix: cartilaginous-osseous composite formation, tendon integration, and vascularization during skeletal growth and repair

Etich, J., Probst, K., Miller, J., Meinberger, D., Bubb, K., Krüger, M., Koch, M., Zaucke, F., Ignatius, A. A., Fischer, V., et al. (2026) · Journal of Bone and Mineral Research · doi:10.1093/jbmr/zjag077

Generation of a P4hbY393C mouse model of cole–carpenter syndrome and therapeutic proof-of-concept

Maurizi, A., Pucci, E., Patrizii, P., Silvestri, L., Rucci, N., & Capulli, M. (2026) · Life Sciences · doi:10.1016/j.lfs.2026.124593

Donor-dependent heterogeneity and matrix-remodeling transcriptional programs in COL2A1-variant urine-derived cell cultures with IGF1-associated cell-state shifts

Schulz, A., Schubert, M., Brockmann, E. M., Ekici, A. B., Uebe, S., & Thiel, C. T. (2026) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2026.1920598

FAIRsharing record for: MatrisomeDB

FAIRsharing Team, Naba, A., & Naba, A. (2023) · FAIRsharing.org · doi:10.25504/fairsharing.a932b3

Targeting Oxidative Stress Attenuates Vascular Fibrosis in Cellular and Animal Models of Hyperlipidemia

Asenjo‐Bueno, A., Moreno-Piedra, A., Martos-Elvira, M., Sanz-Zamora, J., Olmos, G., Ruiz‐Torres, M. P., Alcalde‐Estévez, E., & López‐Ongil, S. (2026) · Antioxidants · doi:10.3390/antiox15111399

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