Hypermobile Ehlers‐Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes
C Gensemer, R Burks, S Kautz, DP Judge… - Developmental …, 2021 - Wiley Online Library
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 …
The Ehlers–Danlos syndromes, rare types
AF Brady, S Demirdas… - American Journal of …, 2017 - Wiley Online Library
The Ehlers–Danlos syndromes comprise a clinically and genetically heterogeneous group
of heritable connective tissue disorders, which are characterized by joint hypermobility, skin …
of heritable connective tissue disorders, which are characterized by joint hypermobility, skin …
The ehlers–danlos syndromes
F Malfait, M Castori, CA Francomano… - Nature Reviews …, 2020 - nature.com
Abstract The Ehlers–Danlos syndromes (EDS) are a heterogeneous group of hereditary
disorders of connective tissue, with common features including joint hypermobility, soft and …
disorders of connective tissue, with common features including joint hypermobility, soft and …
[HTML][HTML] Proteoglycans and neuronal migration in the cerebral cortex during development and disease
N Maeda - Frontiers in neuroscience, 2015 - frontiersin.org
Chondroitin sulfate proteoglycans and heparan sulfate proteoglycans are major constituents
of the extracellular matrix and the cell surface in the brain. Proteoglycans bind with many …
of the extracellular matrix and the cell surface in the brain. Proteoglycans bind with many …
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers‐danlos syndrome hypermobility type compared to other heritable connective …
M Colombi, C Dordoni, N Chiarelli… - American Journal of …, 2015 - Wiley Online Library
Joint hypermobility syndrome/Ehlers–Danlos syndrome hypermobility type (JHS/EDS‐HT) is
an evolving and protean disorder mostly recognized by generalized joint hypermobility and …
an evolving and protean disorder mostly recognized by generalized joint hypermobility and …
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue
Ehlers–Danlos syndrome (EDS) describes a group of clinical entities in which the
connective tissue, primarily that of the skin, joint and vessels, is abnormal, although the …
connective tissue, primarily that of the skin, joint and vessels, is abnormal, although the …
Genome integrity in aging: human syndromes, mouse models, and therapeutic options
WP Vermeij, JHJ Hoeijmakers… - Annual review of …, 2016 - annualreviews.org
Human syndromes and mouse mutants that exhibit accelerated but bona fide aging in
multiple organs and tissues have been invaluable for the identification of nine denominators …
multiple organs and tissues have been invaluable for the identification of nine denominators …
[HTML][HTML] Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa
T Van Damme, T Gardeitchik, M Mohamed… - The American Journal of …, 2017 - cell.com
Defects of the V-type proton (H+) ATPase (V-ATPase) impair acidification and intracellular
trafficking of membrane-enclosed compartments, including secretory granules, endosomes …
trafficking of membrane-enclosed compartments, including secretory granules, endosomes …
Xylose phosphorylation functions as a molecular switch to regulate proteoglycan biosynthesis
Most eukaryotic cells elaborate several proteoglycans critical for transmitting biochemical
signals into and between cells. However, the regulation of proteoglycan biosynthesis is not …
signals into and between cells. However, the regulation of proteoglycan biosynthesis is not …
Vascular aspects of the Ehlers-Danlos syndromes
F Malfait - Matrix Biology, 2018 - Elsevier
Abstract The Ehlers-Danlos Syndromes comprise a heterogeneous group of rare monogenic
conditions that are characterized by joint hypermobility, skin and vascular fragility and …
conditions that are characterized by joint hypermobility, skin and vascular fragility and …