Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases
Abstract Collagen alpha-1 (III) chain, also known as the alpha 1 chain of type III collagen, is
a protein that in humans is encoded by the COL3A1 gene. Three alpha 1 chains are …
a protein that in humans is encoded by the COL3A1 gene. Three alpha 1 chains are …
The Beighton Score as a measure of generalised joint hypermobility
Abstract The Beighton Score (BS) is a set of manoeuvres in a nine-point scoring system,
used as the standard method of assessment for Generalised Joint Hypermobility (GJH). It …
used as the standard method of assessment for Generalised Joint Hypermobility (GJH). It …
A framework for the classification of joint hypermobility and related conditions
M Castori, B Tinkle, H Levy, R Grahame… - American Journal of …, 2017 - Wiley Online Library
In the last decade, growing attention has been placed on joint hypermobility and related
disorders. The new nosology for Ehlers–Danlos syndrome (EDS), the best‐known and …
disorders. The new nosology for Ehlers–Danlos syndrome (EDS), the best‐known and …
[HTML][HTML] Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome
Many different heritable connective tissue disorders (HCTD) have been described over the
past decades. These syndromes often affect the connective tissue of various organ systems …
past decades. These syndromes often affect the connective tissue of various organ systems …
Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case–control comparison
Objectives To describe the epidemiology of diagnosed hypermobility spectrum disorder
(HSD) and Ehlers-Danlos syndromes (EDS) using linked electronic medical records. To …
(HSD) and Ehlers-Danlos syndromes (EDS) using linked electronic medical records. To …
Hypermobile Ehlers‐Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes
Abstract The Ehlers‐Danlos syndromes (EDS) are a group of heritable, connective tissue
disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility …
disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility …
Pediatric joint hypermobility: a diagnostic framework and narrative review
LJ Tofts, J Simmonds, SB Schwartz… - Orphanet journal of rare …, 2023 - Springer
Abstract Background Hypermobile Ehlers–Danlos syndrome (hEDS) and hypermobility
spectrum disorders (HSD) are debilitating conditions. Diagnosis is currently clinical in the …
spectrum disorders (HSD) are debilitating conditions. Diagnosis is currently clinical in the …
Postural tachycardia syndrome–diagnosis, physiology, and prognosis
AC Arnold, J Ng, SR Raj - Autonomic Neuroscience, 2018 - Elsevier
Postural tachycardia syndrome (POTS) is a heterogeneous clinical syndrome that has
gained increasing interest over the past few decades due to its increasing prevalence and …
gained increasing interest over the past few decades due to its increasing prevalence and …
From structure to phenotype: impact of collagen alterations on human health
L Arseni, A Lombardi, D Orioli - International journal of molecular sciences, 2018 - mdpi.com
The extracellular matrix (ECM) is a highly dynamic and heterogeneous structure that plays
multiple roles in living organisms. Its integrity and homeostasis are crucial for normal tissue …
multiple roles in living organisms. Its integrity and homeostasis are crucial for normal tissue …
Collagen transport and related pathways in Osteogenesis Imperfecta
L Claeys, S Storoni, M Eekhoff, M Elting, L Wisse… - Human genetics, 2021 - Springer
Osteogenesis Imperfecta (OI) comprises a heterogeneous group of patients who share bone
fragility and deformities as the main characteristics, albeit with different degrees of severity …
fragility and deformities as the main characteristics, albeit with different degrees of severity …