ReviewNature reviews. Genetics2009
Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations.
Review in Nature reviews. Genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 172 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
172 citing papers in PubMed, 328 citations in OpenAlex.
- Bone matrix proteins: regulators of skeletal remodeling and repair.Journal of bone and mineral metabolism · 2026Review
- A novel MMP13 frameshift variant causes short stature via enhanced MMP13-HSPA5 interaction and activated endoplasmic reticulum stress.Clinical and translational medicine · 2026Article
- A damaging mutation in COL6A3 alters the mechanobiologic response of chondrocytes derived from human induced pluripotent stem cells.Stem cell research & therapy · 2026Article
- Evidence of compensatory elastin remodeling in non-prolapsed uterosacral ligaments and its divergence in histopathological subtypes of pelvic organ prolapse.BMC women's health · 2026Article
- Donor-dependent heterogeneity and matrix-remodeling transcriptional programs inFrontiers in cell and developmental biology · 2026Article
- Bilateral Cranial Cruciate Ligament Rupture Treatment in a Dog Affected by Classical Ehlers-Danlos Syndrome.Veterinary sciences · 2025Article
- Mechanical Signaling: Molecular Mechanisms, Biological Functions, Diseases, and Therapeutic Targets.MedComm · 2025Review
- Polynucleotide HPTAntioxidants (Basel, Switzerland) · 2025Article
- Organoid-based tissue engineering for advanced tissue repair and reconstruction.Materials today. Bio · 2025Review
- Current perspectives on gene therapy and its involvement in curing genetic disorders.Human genetics · 2025Review
- Development of the mechanoresponsive pericellular matrix of chondrons.Science advances · 2025Article
- Decellularized Cell-Secreted Extracellular Matrices as Biomaterials for Tissue Engineering.Small science · 2025Review
- Unraveling the Role of the Tumor Extracellular Matrix to Inform Nanoparticle Design for Nanomedicine.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Review
- Biallelic and monoallelic variants in EFEMP1 can cause a severe and distinct subtype of heritable connective tissue disorder.European journal of human genetics : EJHG · 2024Article
- A monoallelic variant in CCN2 causes an autosomal dominant spondyloepimetaphyseal dysplasia with low bone mass.Bone research · 2024Article
- Review
- ER procollagen storage defect without coupled unfolded protein response drives precocious arthritis.Life science alliance · 2024Article
- Shear wave elastography to assess stiffness of the human ovary and other reproductive tissues across the reproductive lifespan in health and disease†.Biology of reproduction · 2024Review
- Blood-testis barrier: a review on regulators in maintaining cell junction integrity between Sertoli cells.Cell and tissue research · 2024Review
- Single-cell analysis of matrisome-related genes in breast invasive carcinoma: new avenues for molecular subtyping and risk estimation.Frontiers in immunology · 2024Article
112 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Tissue-specific extracellular matrices (ECMs) are crucial for normal development and tissue function, and mutations in ECM genes result in a wide range of serious inherited connective tissue disorders. Mutations cause ECM dysfunction by combinations of two mechanisms. First, secretion of the mutated ECM components can be reduced by mutations affecting synthesis or by structural mutations causing cellular retention and/or degradation. Second, secretion of mutant protein can disturb crucial ECM interactions, structure and stability. Moreover, recent experiments suggest that endoplasmic reticulum (ER) stress, caused by mutant misfolded ECM proteins, contributes to the molecular pathology. Targeting ER stress might offer a new therapeutic strategy.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.