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 …

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 …

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 …

XYLT1 mutations in Desbuquois dysplasia type 2

C Bui, C Huber, B Tuysuz, Y Alanay… - The American Journal of …, 2014 - cell.com
Desbuquois dysplasia (DBQD) is a severe condition characterized by short stature, joint
laxity, and advanced carpal ossification. Based on the presence of additional hand …

[HTML][HTML] Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review

S D'hondt, T Van Damme, F Malfait - Genetics in Medicine, 2018 - Elsevier
Purpose Within the spectrum of the Ehlers-Danlos syndromes (EDS), vascular complications
are usually associated with the vascular subtype of EDS. Vascular complications are also …

Whole exome sequencing to identify genetic causes of short stature

MH Guo, Y Shen, EC Walvoord, TC Miller… - Hormone research in …, 2014 - karger.com
Abstract Background/Aims: Short stature is a common reason for presentation to pediatric
endocrinology clinics. However, for most patients, no cause for the short stature can be …

Bone and connective tissue disorders caused by defects in glycosaminoglycan biosynthesis: a panoramic view

C Paganini, R Costantini, A Superti‐Furga… - The FEBS …, 2019 - Wiley Online Library
Glycosaminoglycans (GAG s) are a heterogeneous family of linear polysaccharides that
constitute the carbohydrate moiety covalently attached to the protein core of proteoglycans …

Congenital disorders of deficiency in glycosaminoglycan biosynthesis

S Mizumoto, S Yamada - Frontiers in genetics, 2021 - frontiersin.org
Glycosaminoglycans (GAGs) including chondroitin sulfate, dermatan sulfate, and heparan
sulfate are covalently attached to specific core proteins to form proteoglycans, which are …

The structure and function of lamin A/C: Special focus on cardiomyopathy and therapeutic interventions

V Tiwari, MJ Alam, M Bhatia, M Navya, SK Banerjee - Life Sciences, 2024 - Elsevier
Lamins are inner nuclear membrane proteins that belong to the intermediate filament family.
Lamin A/C lie adjacent to the heterochromatin structure in polymer form, providing skeletal to …

Alterations in glycosaminoglycan biosynthesis associated with the Ehlers-Danlos syndromes

D Syx, S Delbaere, C Bui, A De Clercq… - … of Physiology-Cell …, 2022 - journals.physiology.org
Proteoglycans consist of a core protein substituted with one or more glycosaminoglycan
(GAG) chains and execute versatile functions during many physiological and pathological …