Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type

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Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family

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Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets

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Evidence of small fiber neuropathy in a patient with Ehlers–Danlos syndrome, hypermobility-type

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Daily persistent headache after a viral illness during a worldwide pandemic may not be a new occurrence: Lessons from the 1890 Russian/Asiatic flu

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COL1 ‐related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap

Morlino, S., Micale, L., Ritelli, M., Rohrbach, M., Zoppi, N., Vandersteen, A., MacKay, S. B., Agolini, E., Cocciadiferro, D., Sasaki, E., et al. (2019) · Clinical Genetics · doi:10.1111/cge.13683 · Cited by 55 · see citing works

Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β

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Dermal fibroblast-to-myofibroblast transition sustained by αvß3 integrin-ILK-Snail1/Slug signaling is a common feature for hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders

Zoppi, N., Chiarelli, N., Binetti, S., Ritelli, M., & Colombi, M. (2018) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2018.01.005 · Cited by 49 · see citing works

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

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Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients’ skin fibroblasts

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Updates in Clinical and Genetics Aspects of Hypermobile Ehlers Danlos Syndrome

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Phenotype-genotype comorbidity analysis of patients with rare disorders provides insight into their pathological and molecular bases

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Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders.

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Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant

Rymen, D., Ritelli, M., Zoppi, N., Cinquina, V., Giunta, C., Rohrbach, M., & Colombi, M. (2019) · Genes · doi:10.3390/genes10110843 · Cited by 29 · see citing works

Biological insights in the pathogenesis of hypermobile Ehlers-Danlos syndrome from proteome profiling of patients' dermal myofibroblasts

Chiarelli, N., Zoppi, N., Ritelli, M., Venturini, M., Capitanio, D., Gelfi, C., & Colombi, M. (2020) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2020.166051 · Cited by 27 · see citing works

Hypermobile <scp>Ehlers–Danlos</scp> syndrome: A review and a critical appraisal of published genetic research to date

Scicluna, K., Formosa, M. M., Farrugia, R., & Borg, I. (2022) · Clinical Genetics · doi:10.1111/cge.14026 · Cited by 20 · see citing works

Biomarkers for Ehlers-Danlos Syndromes: There Is a Role?

Caliogna, L., Guerrieri, V., Annunziata, S., Bina, V., Brancato, A. M., Castelli, A., Jannelli, E., Ivone, A., Grassi, F. A., Mosconi, M., et al. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms221810149 · Cited by 20 · see citing works

RNA-Seq of Dermal Fibroblasts from Patients with Hypermobile Ehlers–Danlos Syndrome and Hypermobility Spectrum Disorders Supports Their Categorization as a Single Entity with Involvement of Extracellular Matrix Degrading and Proinflammatory Pathomechanisms

Ritelli, M., Chiarelli, N., Cinquina, V., Zoppi, N., Bertini, V., Venturini, M., & Colombi, M. (2022) · Cells · doi:10.3390/cells11244040 · Cited by 19 · see citing works

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 18 · see citing works

Skeletal fragility: an emerging complication of Ehlers–Danlos syndrome

Formenti, A. M., Doga, M., Frara, S., Ritelli, M., Colombi, M., Banfi, G., & Giustina, A. (2019) · Endocrine · doi:10.1007/s12020-018-1822-y · Cited by 17 · see citing works

High Prevalence of Connective Tissue Gene Variants in Professional Ballet

Vera, A. M., Peterson, L. E., Dong, D., Haghshenas, V., Yetter, T. R., Delgado, D. A., McCulloch, P. C., Varner, K. E., & Harris, J. D. (2019) · The American Journal of Sports Medicine · doi:10.1177/0363546519887955 · Cited by 16 · see citing works

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 16 · see citing works

Fascial Pathophysiology in Hypermobility Spectrum Disorders and Hypermobile Ehlers–Danlos Syndrome: A Review of Emerging Evidence

Wang, T. J., Stecco, A., Hakim, A. J., & Schleip, R. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26125587 · Cited by 14 · see citing works

Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy

Micale, L., Morlino, S., Biagini, T., Carbone, A., Fusco, C., Ritelli, M., Giambra, V., Zoppi, N., Nardella, G., Notarangelo, A., et al. (2020) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2020.165742 · Cited by 14 · see citing works

The dermatological aspects of hEDS in women

Edimo, C. O., Wajsberg, J. R., Wong, S., Nahmias, Z. P., & Riley, B. A. (2021) · International Journal of Women’s Dermatology · doi:10.1016/j.ijwd.2021.01.020 · Cited by 14 · see citing works

Fascial thickness and stiffness in hypermobile Ehlers‐Danlos syndrome

Wang, T. J., & Stecco, A. (2021) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31948 · Cited by 11 · see citing works

Decoding the Genetic Basis of Mast Cell Hypersensitivity and Infection Risk in Hypermobile Ehlers-Danlos Syndrome

Shirvani, P., Shirvani, A., & Holick, M. F. (2024) · Current Issues in Molecular Biology · doi:10.3390/cimb46100689 · Cited by 10 · see citing works

A novel mutation in collagen transport protein, MIA3 gene, detected in a patient with clinical symptoms of Ehlers–Danlos hypermobile syndrome

Junkiert-Czarnecka, A., Pilarska-Deltow, M., Bąk, A., Heise, M., & Haus, O. (2023) · Advances in Clinical and Experimental Medicine · doi:10.17219/acem/158028 · Cited by 10 · see citing works

Ehlers–Danlos syndrome-related genes and serum strontium, zinc, and lithium levels in generalized joint hypermobility: a case-control study

Tuna, F., Doğanlar, Z. B., Özdemir, H., Kabayel, D. D., & Doğanlar, O. (2019) · Connective Tissue Research · doi:10.1080/03008207.2019.1675648 · Cited by 10 · see citing works

Joint Hypermobility Syndrome and Membrane Proteins: A Comprehensive Review

Pliego-Arreaga, R., Cervantes‐Montelongo, J. A., Silva-Martínez, G. A., Tristán-Flores, F. E., Pantoja-Hernández, M. Á., & Maldonado-Coronado, J. R. (2024) · Biomolecules · doi:10.3390/biom14040472 · Cited by 8 · see citing works

Proteomic discoveries in hypermobile Ehlers–Danlos syndrome reveal insights into disease pathophysiology

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Genomic Characterization by Whole-Exome Sequencing of Hypermobility Spectrum Disorder

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Evaluating the Impact of Capsular Closure on Clinical Outcomes, Revision Rates, and Return to Sports in Adolescent Females Undergoing Hip Arthroscopy for Femoroacetabular Impingement

Vera, A. M., McQuivey, K. S., Murphy, S. N., Brinkman, J. C., & Economopoulos, K. J. (2025) · Orthopaedic Journal of Sports Medicine · doi:10.1177/23259671241295755 · Cited by 7 · see citing works

TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis

Morlino, S., Carbone, A., Ritelli, M., Fusco, C., Giambra, V., Nardella, G., Notarangelo, A., Panelli, P., Mazzoccoli, G., Zoppi, N., et al. (2019) · Human Mutation · doi:10.1002/humu.23834 · Cited by 7 · see citing works

Measurement of Serum Tenascin-X in Joint Hypermobility Syndrome Patients

Yamada, K., Watanabe, A., Takeshita, H., Fujita, A., Miyake, N., Matsumoto, N., & Matsumoto, K. (2019) · Biological and Pharmaceutical Bulletin · doi:10.1248/bpb.b19-00168 · Cited by 7 · see citing works

Understanding the Early Biological Effects of Isoprene-Derived Particulate Matter Enhanced by Anthropogenic Pollutants.

Surratt, J. D., Lin, Y.-H., Arashiro, M., Vizuete, W., Zhang, Z., Gold, A. R., Jaspers, I., & Fry, R. C. (2019) · PubMed Central · Cited by 7 · see citing works

B3GALT6 mutations lead to compromised connective tissue biomechanics in Ehlers-Danlos syndrome

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Pain in Ehlers-Danlos syndromes

Bénistan, K., & Gillas, F. (2019) · Joint Bone Spine · doi:10.1016/j.jbspin.2019.09.011 · Cited by 5 · see citing works

The impact of generalized joint hypermobility on eating behavior of students: A case-control study

Can, S., & Tuna, F. (2022) · Journal of American College Health · doi:10.1080/07448481.2022.2037613 · Cited by 3 · see citing works

Gastrointestinal Manifestations of Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders: A Mentored Review

Ahmed, A., Paudel, B., & Sharma, A. (2026) · Digestive Diseases and Sciences · doi:10.1007/s10620-026-09958-8 · Cited by 2 · see citing works

Rare missense variants in FNDC1 are associated with severe adolescent idiopathic scoliosis

Charng, W., Haller, G., Whittle, J., Nikolov, M. A., Avery, A., Morcuende, J. A., Giampietro, P. F., Raggio, C. L., Miller, N. H., Justice, A. E., et al. (2025) · Journal of Medical Genetics · doi:10.1136/jmg-2024-110586 · Cited by 2 · see citing works

Transcriptome Analysis of Monocytes and Fibroblasts Provides Insights Into the Molecular Features of Periodontal Ehlers-Danlos Syndrome

Liao, Z., Zhao, T., Wang, N., Chen, J., Sun, W., & Wu, J. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.834928 · Cited by 2 · see citing works

Ultrastructure study of skin fibroblasts in patients with Ehlers-Danlos Syndrome (EDS): preliminary results.

Celli, M., Iacovino, C., Febbo, A., Lotti, L. V., Miraglia, E., Celli, L., Roberti, V., Sernicola, A., Zambrano, A., Turchetti, A., et al. (2020) · PubMed · doi:10.7417/ct.2020.2253 · Cited by 2 · see citing works

The role of gene encoding collagen secretion protein (SERPINH1) in the pathogenesis of a hypermobile type of Ehlers-Danlos syndrome

Junkiert-Czarnecka, A., Pilarska-Deltow, M., Bąk, A., Heise, M., & Haus, O. (2023) · Advances in Dermatology and Allergology · doi:10.5114/ada.2022.124107 · Cited by 1 · see citing works

ESTUDO DE PREVALÊNCIA CARDIOVASCULAR EM CABO VERDE (ESTUDO PREVCARDIO.CV) - ILHA DO MAIO

COELHO, P. M. D. S. C., Rodrigues, F., & Adrião, L. L. D. S. (2021) · doi:10.22533/at.ed.5892117059 · Cited by 1 · see citing works

Specific features of arterial stiffness and endothelial vasomotor dysfunction in patients with joint hypermobility syndrome

Karpovich, Y. L., & Pronko, T. P. (2024) · Regional blood circulation and microcirculation · doi:10.24884/1682-6655-2024-23-2-30-37 · Cited by 1 · see citing works

Syndromes d’Ehlers-Danlos et douleur

Bénistan, K., & Gillas, F. (2019) · Revue du Rhumatisme · doi:10.1016/j.rhum.2019.09.006

Personalized precision medicine—Part A: Concepts and relevance in Mendelian disorders

Smith, M. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-819613-7.00009-8

Benign Joint Hypermobility Syndrome (BJHS)

Błasiak, A. (2020) · Springer eBooks · doi:10.1007/978-3-662-61074-9_5

PAPEL DOS PEPTÍDEOS SEMELHANTES AO GLUCAGON (GLP-1 E GLP-2) NA MODULAÇÃO DA SACIEDADE

Cazzo, E. (2021) · doi:10.22533/at.ed.58921170514

ESCLEROSE MÚLTIPLA: UMA REVISÃO DE LITERATURA

Vieira, L. A. M., Coelho, C. M., Martins, I. N., Cunha, L. F. G., Ferreira, L. D. M., Rosado, L. C., de Sá, C. V., Figueiredo, B. A. P., Resende, A. G. A., Matioli, M. L. N., et al. (2021) · doi:10.22533/at.ed.5892117058

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do Canto, M. C., Scarpari, B. F., Nery, G. B., de Oliveira, G. V., & Madeira, K. (2021) · doi:10.22533/at.ed.58921170510

O TRANSTORNO DO ESPECTRO AUTISMO – O PARADIGMA DO DIAGNÓSTICO

Gonçalves, C. C., Pessoa, F. M. D. L., & Aguilar, C. P. C. (2021) · doi:10.22533/at.ed.58921170513

INFARTO AGUDO DO MIOCÁRDIO: UM ESTUDO ANATÔMICO E SUAS ABORDAGENS TERAPÊUTICAS

Nepomuceno, F. C. L., Montenegro, B. V., Viegas, E. L. D. M., & Lima, L. S. D. S. (2021) · doi:10.22533/at.ed.58921170511

ALTERAÇÕES COGNITIVAS E COMPORTAMENTAIS APÓS UM TRAUMATISMO CRÂNIO ENCEFÁLICO

Camelini, L. C., Carias, G. B., Gandolfo, J. L., Bonfá, M. C., Rocha, M. C., Carrilho, N. S. R., & de Figueiredo, P. A. D. (2021) · doi:10.22533/at.ed.5892117053

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Zampieri, V. Y., & Veronez, D. A. D. L. (2021) · doi:10.22533/at.ed.58921170512

QUIMIOTERAPIA PALIATIVA BENEFICIA PACIENTES COM CANCER AVANÇADO E BAIXO PERFORMANCE?

de Vasconcellos, V. F., Bonadio, R. R. D. C. C., Avanço, G., Negrao, M. V., Felippe, L. V., Senra, J. G., & Riechelmann, R. P. (2021) · doi:10.22533/at.ed.58921170517

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Magalhães, V. S., da Cunha, C. E. X., Castro, L. R., Ribeiro, M. V. M. R., Júnior, A. J. D. V. C., Ferreira, M. M. A. G., Barros, M. K. L., Torres, I. P., da Silva, F. K. S., Mendonça, I. M., et al. (2021) · doi:10.22533/at.ed.5892117057

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Nascimento, F. D. C., & Ferreira, V. (2021) · doi:10.22533/at.ed.58921170516

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Ponte, A. R., de Aragão, C. R. B., Trindade, G. B. D. M., Alcântara, L. D. M., Leite, L. V., Pantoja, J. V. S., & de Mendonça, M. H. R. (2021) · doi:10.22533/at.ed.58921170515

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de Sá, Y. Q. P., Storino, A. D. V. C. E. S., de Figueiredo, A. B. D. C. L., Ale, A. C. C., Júnior, A. D. H. G., Rodrigues, B. T., Neto, L. P. B. S., Mendes, K. B. D. M., Loma, W. A., Ramos, W. M., et al. (2021) · doi:10.22533/at.ed.5892117056

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Moura, L. S. C., Pereira, P. B., Prosdócimi, F. C., & Brooks, J. B. B. (2021) · doi:10.22533/at.ed.58921170520

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Pereira, F. K., Pereira, L. F. M., & Cenatti, A. (2021) · doi:10.22533/at.ed.58921170523

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de Paulo, T. M., Vieira, C. M., Souto, D. N., Teotonio, E. D. O., de Queiroz, J. M., Soares, J. B., de Sá, J. D., Ganças, L. F. N., de Paula, M. R., Silva, N. N. D. D. L. E., et al. (2021) · doi:10.22533/at.ed.58921170522

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Perencini, A. B., Coutinho, I. D. S., Cabral, I. A., Liporoni, J. R., Moreti, M. P., Tellini, N., & Trigo, Á. A. (2021) · doi:10.22533/at.ed.5892117051

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de Melo, R. R., Coelho, V. F. P., Muniz, L. D. P., Rosa, C. G., Felten, C. C., & Silva, V. M. R. (2021) · doi:10.22533/at.ed.5892117054

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Mota, M. J. S., de Andrade, T. V., de Carvalho, A. S., Vieira, A. C. A., & Júnior, E. D. A. (2021) · doi:10.22533/at.ed.58921170518

Faculty Opinions recommendation of Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β.

Lionakis, M. S. (2020) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.737003358.793572051

Ehlers-Danlos syndrome: From bedside to bench

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Proximity extension assay-based serum proteomic profiling identifies shared protein signatures in hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders

Cinquina, V., Carini, G., Chiarelli, N., Vezzoli, M., Bertini, V., Venturini, M., Gandy, W., Colombi, M., & Ritelli, M. (2026) · Clinical Proteomics · doi:10.1186/s12014-026-09588-2

Ventral coxofemoral luxation in poodle breeds: multicentre retrospective case series

Costa, L., Perry, K. L., Low, D., de la Oliva, P. L., Karlin, M., Barnes, K. H., Baker, C. E., & Rutherford, S. (2026) · Journal of Small Animal Practice · doi:10.1111/jsap.70130

Genetic Causes and Ankle Instability in Hypermobile Ehlers–Danlos Syndrome (hEDS): An Integrated Analysis Using Whole-Exome Sequencing and Stress Imaging

Kim, J., Lee, H.-Y., Kim, S.-Y., Lee, S. H., Cho, M., Shin, J. W., Yoon, Y. D., Lee, J., Kang, Y. E., Kang, D. H., et al. (2026) · Journal of Clinical Medicine · doi:10.3390/jcm15103881

Molecular and cellular mechanisms of undifferentiated forms of connective tissue dysplasia (literature review)

Дворниченко, М. В., Белоусов, М. В., Melnik, Y. Y., Zinovyev, E. А., Sudakov, A. D., Loban, E. R., Byakov, V. A., & Ivanova, E. A. (2026) · JOURNAL of SIBERIAN MEDICAL SCIENCES · doi:10.31549/2542-1174-2026-10-2-146-162

Lower androgen sulfate metabolites in women with hypermobile Ehlers-Danlos syndrome may be associated with changed metabolism and disposition

Hannon, S. L., Andrews, J., & Laukaitis, C. M. (2026) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2026.107090

A trial of exosome rich stem cell secretome as a potential treatment for Hypermobile Ehlers-Danlos Syndrome

Flynn, K. J., Ransom, J. T., & McGrath, D. (2026) · Frontiers in Medicine · doi:10.3389/fmed.2026.1945865

RNA-Seq of Dermal Fibroblasts from Patients with Hypermobile Ehlers–Danlos Syndrome and Hypermobility Spectrum Disorders Supports Their Categorization as a Single Entity with Involvement of Extracellular Matrix Degrading and Proinflammatory Pathomechanisms

Ritelli, M., Chiarelli, N., Cinquina, V., Zoppi, N., Bertini, V., Venturini, M., & Colombi, M. (2022) · Cells · doi:10.3390/cells11244040 · Cited by 19 · see citing works

Dermal fibroblast-to-myofibroblast transition sustained by αvß3 integrin-ILK-Snail1/Slug signaling is a common feature for hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders

Zoppi, N., Chiarelli, N., Binetti, S., Ritelli, M., & Colombi, M. (2018) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2018.01.005 · Cited by 49 · see citing works

Biological insights in the pathogenesis of hypermobile Ehlers-Danlos syndrome from proteome profiling of patients' dermal myofibroblasts

Chiarelli, N., Zoppi, N., Ritelli, M., Venturini, M., Capitanio, D., Gelfi, C., & Colombi, M. (2020) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2020.166051 · Cited by 27 · see citing works

Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients’ skin fibroblasts

Chiarelli, N., Carini, G., Zoppi, N., Ritelli, M., & Colombi, M. (2019) · PLOS ONE · doi:10.1371/journal.pone.0211647 · Cited by 35 · see citing works

Cellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile Ehlers‒Danlos Syndromes

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