نتایج جستجو برای: fibrillin

تعداد نتایج: 907  

Journal: :Lancet 2005
Daniel P Judge Harry C Dietz

Marfan's syndrome is a systemic disorder of connective tissue caused by mutations in the extracellular matrix protein fibrillin 1. Cardinal manifestations include proximal aortic aneurysm, dislocation of the ocular lens, and long-bone overgrowth. Important advances have been made in the diagnosis and medical and surgical care of affected individuals, yet substantial morbidity and premature mort...

Journal: :Journal of Nippon Medical School = Nippon Ika Daigaku zasshi 2006
Tae Matsumoto Atsushi Watanabe Makoto Migita Yoshihiro Gocho Jun Hayakawa Shun-ichi Ogawa Takashi Shimada Yoshitaka Fukunaga

We report on an infant with Beals syndrome (congenital contractural arachnodactyly [CCA], MIM 121050) with transient cardiomyopathy showing ballon-like dilatation of the left ventricle that was similar to noncompaction. The patients father and two of his brothers were also found to have CCA without cardiovascular complications. CCA, which is caused by a mutation of the gene for fibrillin 2 prot...

2011
Shinya Kasamatsu Akira Hachiya Tsutomu Fujimura Penkanok Sriwiriyanont Keiichi Haketa Marty O. Visscher William J. Kitzmiller Alexander Bello Takashi Kitahara Gary P. Kobinger Yoshinori Takema

UVB-induced cutaneous photodamage/photoaging is characterized by qualitative and quantitative deterioration in dermal extracellular matrix (ECM) components such as collagen and elastic fibers. Disappearance of microfibrillar-associated protein 4 (MFAP-4), a possible limiting factor for cutaneous elasticity, was documented in photoaged dermis, but its function is poorly understood. To characteri...

Journal: :Journal of Biological Chemistry 2005

Journal: :Journal of Neurology, Neurosurgery & Psychiatry 2003

Journal: :Journal of Biological Chemistry 1999

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