Results 91 to 100 of about 1,915,478 (171)

Type V and type III collagen modulate the expression and assembly of fibronectin extracellar matrix in classic and vascular Ehlers-Danlos syndrome fibroblasts, affecting cell survival and migration

, 2012
Extracellular matrix (ECM) regulates cell proliferation, migration, survival and gene expression, via signal transduction pathways differentially activated by ECM ligands interacting with specific integrins.
ZOPPI, Nicoletta, RITELLI, Marco Giuseppe, COLOMBI, Marina   +2 more
core  

Stroke in Ehlers-Danlos Syndrome Kyphoscoliotic Type: Dissection or Vasculitis?

, 2017
BACKGROUND: Patients with the kyphoscoliotic type of Ehlers-Danlos syndrome have an increased risk of vascular complications such as aortic dissection and perforation. Cerebral ischemia has only rarely been documented.
Martin Wiesmann, Martin Häusler, Kurth, Ingo, Häusler, Martin, Jalaie, Houman, Rohrbach, Marianne, Marianne Rohrbach, Houman Jalaie, Joachim Weis, Ingo Kurth, Weis, Joachim, Häusler, Martin Georg, Wiesmann, Martin, Quade, Annegret, Annegret Quade, Rohrbach M, Häusler M, Kurth I, Wiesmann M, Weis J, Jalaie H, Quade A   +21 more
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Kyphoscoliotic Ehlers-Danlos syndrome due to a novel homozygous PLOD1 variant: severe vascular involvement and molecular diagnosis

BMC Medical Genomics
Background Kyphoscoliotic Ehlers-Danlos syndrome (kEDS, OMIM: #225400) is a rare subtype of Ehlers-Danlos syndrome characterized by joint hypermobility and spinal deformity, with occasional vascular complications.
Yan Yu, Yimo Zeng, Yingdi Liu, Yaning Liu, Qingxin Shi, Huimin Zhu, Juan Wen, Desheng Liang, Zhuo Li, Lingqian Wu   +9 more
doaj   +1 more source

The Novel Association of a Single Nucleotide Variant in the COL3A1 Gene with Diffuse Coronary Aneurysms

Current Issues in Molecular Biology
The COL3A1 gene, encoding the pro-alpha chain of type III collagen, has been implicated in a range of collagen-mediated diseases such as Ehlers–Danlos syndrome and aortic aneurysms.
Charlene Norgan Radler, Kevin Ku, Alison Hodge, Tianci Wang, Peyton Moore, Mohanakrishnan Sathyamoorthy   +5 more
doaj   +1 more source

Investigation into the Ehlers-Danlos syndrome [PDF]

, 1954
Since the 17th century there has been a certain confusion in diagnosis of what is now called the Ehlers-Danlos syndrome. In 1682 Meekrin described the case of a Spaniard who could make his skin stretch to an enormous extent, and appears to have confused ...
Mories, Alexander
core   +1 more source

Ehlers-Danlos syndrome Type VI : Case report

, 1998
Ehlers-Danlos sendromu bağ dokusunun genetik geçiş gösteren bir hastalığıdır. Burada, eklem gevşekliği, deri bulguları gibi sendromun temel bulgularının yanısıra belirgin kifoskolyozunun da olması nedeniyle Ehlers-Danlos tip VI tanısı almış, anne ve ...
Ferda Özkınay, Galip Sarı, Özgür Çoğulu, Mahmut Çoker, Cihangir Özkınay, Ayşe Yenigün, Cumhur Gündüz   +6 more
core  

Flow Chart of the functional bowel disorders among the population of Ehlers-Danlos syndrome.

, 2013
Flow Chart of the functional bowel disorders among the population of Ehlers-Danlos syndrome.
Benoît Coffin (488926), Vincent de Parades (488924), Jérémie H. Lefèvre (488923), Iradj Sobhani (231620), Jean-David Zeitoun (488922), Claude Hamonet (488927), César Séjourné (488925)   +6 more
core   +1 more source

Vascular Ehlers-Danlos syndrome

Revista Portuguesa de Cardiologia, 2022
Marta Marques
doaj   +1 more source

Vascular Ehlers‐Danlos syndrome and pregnancy: A systematic review

International audienceBackground Vascular Ehlers‐Danlos syndrome (vEDS) is a hereditary connective tissue disorder associated with an elevated risk of vascular, uterine and digestive complications.
Schmidt, Jean, Foulon, Arthur, Benson, Betty, Gondry, Jean, Haem, Théo, Dernoncourt, Amandine   +5 more
core   +1 more source

Abdominal complications of vascular Ehlers-Danlos syndrome

Acta Biomedica Scientifica
Ehlers-Danlos syndrome (EDS) is a rare genetic disorder that affects the synthesis and function of collagen. The vascular type (vEDS) is one of the most severe variants of the disease, associated with high mortality rates due to the development of life ...
V. N. Stalmakhovich, A. A. Dyukov, R. A. Teschuk   +2 more
doaj   +1 more source