Results 31 to 40 of about 4,235 (189)
Frontiers in Genetics, 2022 Fibrillin proteins are extracellular matrix glycoproteins assembling into microfibrils. FBN1, FBN2, and FBN3 encode the human fibrillins and mutations in FBN1 and FBN2 cause connective tissue disorders called fibrillinopathies, affecting cardiovascular ...
Maria Luce Genovesi +8 more
doaj +1 more source
Clinically relevant variants identified in thoracic aortic aneurysm patients by research exome sequencing [PDF]
, 2016 Thoracic aortic aneurysm (TAA) is a genetically heterogeneous disease involving subclinical and progressive dilation of the thoracic aorta, which can lead to life-threatening complications such as dissection or rupture.
Hinton, Robert B. +4 more
core +1 more source
International Journal of Molecular Sciences, 2022 Most chronic wounds are characterized by varying degrees of hypoxia and low partial pressures of O2 that may favor the development of the wound and/or delay healing. However, most studies regarding extracellular matrix remodeling in wound healing are conducted under normoxic conditions.
Jérémy Boizot +6 more
openaire +2 more sources
Role of fibrilins in human cancer: A narrative review
Health Science Reports, 2023 Background Fibrillin is one of the extracellular matrix glycoproteins and participates in forming microfibrils found in many connective tissues. The microfibrils enable the elasticity and stretching properties of the ligaments and support connective ...
Mahsa Mahdizadehi +3 more
doaj +1 more source
Proteolysis of fibrillin-2 microfibrils is essential for normal skeletal development
eLife, 2022 The embryonic extracellular matrix (ECM) undergoes transition to mature ECM as development progresses, yet few mechanisms ensuring ECM proteostasis during this period are known.
Timothy J Mead +10 more
doaj +1 more source
A tandem duplication within the fibrillin 1 gene is associated with the mouse tight skin mutation. [PDF]
, 1996 Mice carrying the Tight skin (Tsk) mutation have thickened skin and visceral fibrosis resulting from an accumulation of extracellular matrix molecules.
Buchberg, Arthur M. +7 more
core +3 more sources
Gonacin: A germ cell-derived hormone with glucogenic, orexigenic, and gonadal activities
iScience, 2023 Summary: Fish require abundant nutrients to generate a large number of eggs for spawning. Based on the evolutionary conservation of human FBN2 and its C-terminal placensin-like sequences in fish, we identified a peptide hormone gonacin (GONAdal Cell ...
Yixuan Hu +5 more
doaj +1 more source
Genetic Variants and Anterior Cruciate Ligament Rupture: A Systematic Review [PDF]
, 2017 _Background:_ Studies have shown a familial predisposition for anterior cruciate ligament (ACL) rupture and have been followed by genetic-association studies on polymorphisms in candidate genes in recent years.
Kaynak, M. (Mustafa) +4 more
core +4 more sources
Mosaic intragenic deletion of
Clinical Genetics, 2017 No abstract ...
Lavillaureix, A. +10 more
openaire +2 more sources
FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly [PDF]
Journal of Medical Genetics, 2004 Congenital contractures involving multiple joints and a crumpled appearance of the helix of the ear are more common in CCA than MFS. Ectopia lentis is a complication present in approximately half of patients with MFS. The most common cardiovascular complication in patients with MFS is pro- gressive dilatation of the ascending aorta, initially involving
P A, Gupta +6 more
openaire +2 more sources