Results 91 to 100 of about 5,131 (208)
The Dermatan Sulfate Proteoglycan Decorin Modulates α2β1 Integrin and the Vimentin Intermediate Filament System during Collagen Synthesis. [PDF]
, 2012 Decorin, a small leucine-rich proteoglycan harboring a dermatan sulfate chain at its N-terminus, is involved in regulating matrix organization and cell signaling. Loss of the dermatan sulfate of decorin leads to an Ehlers-Danlos syndrome characterized by
Eckes, Beate +8 more
core +4 more sources
Meretoja's Syndrome: Lattice Corneal Dystrophy, Gelsolin Type [PDF]
, 2017 Lattice corneal dystrophy gelsolin type was first described in 1969 by Jouko Meretoja, a Finnish ophthalmologist. It is caused by an autosomal dominant mutation in gelsolin gene resulting in unstable protein fragments and amyloid deposition in various ...
Abreu, C. +5 more
core +3 more sources
Anais Brasileiros de Dermatologia, 2007 FUNDAMENTOS: Elastólise pós-inflamatória e cutis laxa são doenças raras, porém só o Estado de Minas Gerais responde por quase um terço dos casos relatados em todo o mundo. Também são escassos os trabalhos com seguimento dos pacientes.
Claudemir Roberto Aguilar +2 more
doaj +1 more source
Aspectos clínicos del síndrome de Ehlers-Danlos [PDF]
, 1997 Se realiza una revisión bibliográfica de conjunto de los aspectos clínicos más significativos del síndrome de Ehlers-Danlos. Se recogen datos estadísticos, características raciales, morfotipo e interpretación patogénica actual.
Fernández Fernández, C.I. +2 more
core
Washington University Record, April 28, 2006 [PDF]
, 2006 https://digitalcommons.wustl.edu/record/2071/thumbnail ...
core +1 more source
Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree [PDF]
, 2018 Background: Thoracic aortic aneurysm (TAA) is a potentially life-threatening disorder with a strong genetic component. The number of genes implicated in TAA has increased exponentially over the last decade.
Bekkers, S.C.A.M. +14 more
core +1 more source
Journal of Experimental and Clinical Medicine, 2011 ABSTRACT Cutis laxa is an uncommon disorder characterized clinically laxitiy of the skin, which hangs in loose folds, by the loss of dermal elastic tissue. We report a case only neck localized of cutis laxa that no systemic involvement was diagnosed. The skin laxity was preceded by episodes of itching and swelling on her neck. When the patient applied
TUNCEL, Umut +3 more
openaire +4 more sources
Annals of Thoracic Medicine, 2018 Cutis laxa (CL) is a rare connective tissue disease characterized by a loose, wrinkled, and inelastic skin. Here, we report an unusual presentation in a 15-year-old male patient who is a known patient of CL who presented with bilateral pneumothorax.
Waseem M Hajjar +4 more
doaj +1 more source