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 …
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
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 …
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
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 …
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 …