The Ehlers–Danlos syndromes

Malfait, Fransiska; Castori, Marco; Francomano, Clair A.; Giunta, Cecilia; Kosho, Tomoki; Byers, Peter H.

doi:10.1038/s41572-020-0194-9

Cited by 184 publications

(268 citation statements)

References 215 publications

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“…Additional insights into the molecular regulation of collagen fibril assembly in vivo have come from studies of the Ehlers-Danlos syndrome (EDS), which is a heterogeneous group of connective tissue disorders featuring hyperextensible, fragile, easy bruising skin, joint hypermobility, and abnormal wound-healing. The majority of the genes linked to EDS encode the fibrillar collagens types I, III and V, and enzymes that modify procollagen including ADAMTS2 [117] . These studies showed a direct cause and effect of structural changes in type I-containing collagen fibrils and the mechanical properties of tissues.…”

Section: Collagen Assembly In Vivomentioning

confidence: 99%

Collagen fibril assembly: New approaches to unanswered questions

Revell

Jensen

Shearer

et al. 2021

Matrix Biology Plus

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Collagen fibrils are essential for metazoan life. They are the largest, most abundant, and most versatile protein polymers in animals, where they occur in the extracellular matrix to form the structural basis of tissues and organs. Collagen fibrils were first observed at the turn of the 20th century. During the last 40 years, the genes that encode the family of collagens have been identified, the structure of the collagen triple helix has been solved, the many enzymes involved in the post-translational modifications of collagens have been identified, mutations in the genes encoding collagen and collagen-associated proteins have been linked to heritable disorders, and changes in collagen levels have been associated with a wide range of diseases, including cancer. Yet despite extensive research, a full understanding of how cells assemble collagen fibrils remains elusive. Here, we review current models of collagen fibril self-assembly, and how cells might exert control over the self-assembly process to define the number, length and organisation of fibrils in tissues.

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Section: Collagen Assembly In Vivomentioning

confidence: 99%

Collagen fibril assembly: New approaches to unanswered questions

Revell

Jensen

Shearer

et al. 2021

Matrix Biology Plus

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“…Joint hypermobility is a common variant of connective tissue affecting up to 20% of the general population and in symptomatic individuals associated with a wide variety of extraarticular manifestations. [27][28][29][30] Hypermobility is associated with pain, fatigue, gastrointestinal disturbance and headache. [31][32][33][34] It is frequently missed in clinical practice but may provide an important aetiological connection between fibromyalgia, ME/CFS and multiple systemic symptoms, including those described above.…”

Section: Hypermobilitymentioning

confidence: 99%

The challenges of chronic pain and fatigue

Eccles

Davies

2021

Clinical Medicine

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In this review, we explore the challenges of chronic pain and fatigue in clinical practice. Both pain and fatigue are common, troubling and frequently overlapping symptoms, and we describe both the clinical burden and the 'clinical problem'. We explore commonly associated symptoms and possible pathological associations, including variant connective tissue (joint hypermobility), small fibre neuropathy, mast cell activation, dysregulated inflammatory and interoceptive processes, which may inform treatment targets. We suggest a multidisciplinary management approach.

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“…Ehlers-Danlos syndromes (EDS) are clinically and genetically heterogeneous rare hereditary disorders categorized by varying degrees of connective tissue fragility, principally affecting skin, ligaments, blood vessels, and internal organs [61,62]. Main clinical features comprise tissue fragility, skin extensibility, and joint hypermobility.…”

Section: Periodontal Ehlers-danlos Syndromementioning

confidence: 99%

Periodontal Disease Associated with Genetic Disorders

Wu¹,

Leung²,

Sun³

2022

Dentistry

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The object of this chapter was to provide an overview including relevant research progress of some genetic disorders with periodontal manifestations. A number of genetic disorders increase patient susceptibility to periodontal disease, with the latter exhibit rather rapid and aggressive presentations. Periodontal disease, perhaps could be the first detectable sign of an undiagnosed genetic disorder. It is therefore important for dental practitioners to be familiar with genetic disorders and their impact on the periodontal tissues. This chapter reviews several genetic disorders that exhibit periodontal manifestations, including hereditary gingival fibromatosis, Papillon-Lefèvre syndrome, cyclic neutropenia, Ehlers-Danlos syndrome and hypophosphatasia.

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The Ehlers–Danlos syndromes

Cited by 184 publications

References 215 publications

Collagen fibril assembly: New approaches to unanswered questions

Collagen fibril assembly: New approaches to unanswered questions

The challenges of chronic pain and fatigue

Periodontal Disease Associated with Genetic Disorders

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