Fibrillin-1 mutation contributes to Marfan syndrome by inhibiting Cav1.2-mediated cell proliferation in vascular smooth muscle cells. [PDF]
Channels (Austin), 2023 Lin W +7 more
europepmc +1 more source
Solution Structure and Dynamics of a Calcium Binding Epidermal Growth Factor-like Domain Pair from the Neonatal Region of Human Fibrillin-1 [PDF]
, 2003 Rachel Smallridge +5 more
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Marfan syndrome: insights from animal models
Frontiers in GeneticsMarfan syndrome (MFS) is an inherited disorder that affects the connective tissues and mainly presents in the bones, eyes, and cardiovascular system, etc. Aortic pathology is the leading cause of death in patients with Marfan syndrome.
Yuanyuan Jiang +3 more
doaj +1 more source
Three novel mutations of the fibrillin-1 gene and ten single nucleotide polymorphisms of the fibrillin-3 gene in Marfan syndrome patients [PDF]
, 2004 Tomomi Uyeda +8 more
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Fibrillins 1 and 2 Perform Partially Overlapping Functions during Aortic Development [PDF]
, 2005 Luca Carta +12 more
openalex +1 more source
Fibrillin-1 regulates periostin expression during maintenance of periodontal homeostasis. [PDF]
J Dent Sci, 2022 Yoshikazu Manabe +7 more
europepmc +1 more source
Myelofibrosis progression grading based on type I and type III collagen and fibrillin 1 expression boosted by whole slide image analysis. [PDF]
Histopathology, 2023 Szekely T +6 more
europepmc +1 more source
New Studies of the Aberrant Alterations in Fibrillin-1 Methylation During Colorectal Cancer Development. [PDF]
Front Oncol, 2022 Lv L +5 more
europepmc +1 more source
The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family [PDF]
, 2010 Yvonne Hilhorst‐Hofstee +13 more
openalex +1 more source