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fibrillin

from ATP-ascorbic acid-extracted vertebrate muscle residue; filaments measure about 4nm in diameter; RefSeq NM_007993 (Fbn1, mouse); NM_031825 (Fbn1, rat); NM_000138 (FBN1, human); NM_010181 (Fbn2, mouse); NM_031826 (Fbn2, rat); NM_001999 (FBN2, human)

Also Known As:

FBN1 protein, human; FBN2 protein, human; Fbn1 protein, mouse; Fbn1 protein, rat; Fbn2 protein, mouse; Fbn2 protein, rat; fibrillin 1 (Marfan syndrome) protein, human; fibrillin 1 protein, human; fibrillin 1 protein, mouse; fibrillin 1 protein, rat; fibrillin 2 (congenital contractural arachnodactyly) protein, human; fibrillin 2 protein, mouse; fibrillin 2 protein, rat; fibrillin-1; fibrillin-2; proFib; profibrillin 1; profibrillin-1

Networked: 630 relevant articles (4 outcomes, 54 trials/studies)

Relationship Network

Bio-Agent Context: Research Results

Experts

1.	Reinhardt, Dieter P: 25 articles (07/2015 - 12/2002)
2.	Dietz, Harry C: 21 articles (11/2013 - 03/2003)
3.	Ramirez, Francesco: 20 articles (11/2015 - 03/2003)
4.	Sakai, Lynn Y: 12 articles (09/2015 - 12/2002)
5.	Hubmacher, Dirk: 10 articles (12/2015 - 10/2005)
6.	Boileau, Catherine: 10 articles (07/2011 - 04/2002)
7.	Handford, Penny A: 8 articles (08/2015 - 02/2002)
8.	Mecham, Robert P: 7 articles (05/2015 - 10/2003)
9.	Kielty, Cay M: 7 articles (01/2014 - 02/2002)
10.	Robinson, Peter N: 7 articles (09/2013 - 09/2002)

Related Diseases

1.	Marfan Syndrome (Marfan's Syndrome) 06/01/2014 - "Pulmonary involvement is not generally considered a main feature of Marfan syndrome, an autosomal connective tissue disorder caused by mutations in fibrillin 1. Thanks to the substantial progress in treatments, life expectation of these patients has been dramatically improved determining changes in different organ systems. " 01/01/2015 - "The purpose of this study was to identify the clinical features and mutations in the fibrillin-1 gene (FBN1) in a large Chinese family with autosomal dominant Marfan syndrome (MFS). " 10/01/2010 - "These results expand the mutation spectrum of fibrillin-1 gene and help in the study of the molecular pathogenesis of Marfan syndrome, indicating that mutations occurring in the 3' end of fibrillin-1 gene may play an independent functional role in the pathogenesis of Marfan syndrome." 11/01/2009 - "The aim of this study was to establish a national database of mutations in the fibrillin-1 (FBN1) gene that cause Marfan syndrome (MFS) in the Taiwanese population. " 03/01/2008 - "The aberrant fibrillin-1 staining observed in this study is similar to that observed in Marfan syndrome, a syndrome caused by mutations in the gene encoding fibrillin-1. "
2.	Cicatrix (Scar) 09/01/2008 - "The distribution of fibrillin 1 in scars and normal skin was examined by immunohistochemistry staining. " 09/01/2008 - "[The expression of fibrillin 1 in pathologic scars and its significance]." 05/01/2008 - "In scar regions of both patient groups, slight differences in the pattern of fibrillin-1 were observed. " 07/01/1990 - "Spatial arrangements of microfibrils in myocardial scars: application of antibody to fibrillin." 05/01/2008 - "Fibrillin-1 in incisional hernias: an immunohistochemical study in scar and non-scar regions of human skin and muscle fasciae."
3.	Prolapse 04/01/2010 - "A case-controlled study has performed to investigate the relationship between fibrillin 1 gene intron 56 polymorphism and risk of mitral valvar prolapse in Turkish children. " 09/01/2015 - "Age over 40 years (P=0.018) and menopause (P=0.027) were both associated with reduced Fibrillin-1 levels in the pelvic prolapse group, whereas the delivery of babies weighing over 3,500 g at birth was associated with increased Fibrillin-1 expression (P=0.006). " 09/01/2015 - "Similarly, no significant correlation between Fibrillin-1 levels and grade of pelvic prolapse was found. " 04/01/2010 - "We speculate that the higher frequency of fibrillin-1 gene intron 56 G-allele increases the risk of mitral valvar prolapse." 04/01/2010 - "Patients with mitral valvar prolapse have higher frequencies of fibrillin-1 gene intron 56 GC genotypes. "
4.	Pelvic Organ Prolapse 09/01/2015 - "We hypothesize that Fibrillin-1 gene expression is altered in pelvic organ prolapse. " 09/01/2015 - "Is There a Relationship Between Pelvic Organ Prolapse and Tissue Fibrillin-1 Levels?" 09/01/2015 - "The results did not indicate a significant reduction in Fibrillin-1 gene expression in pelvic prolapse disorders; however, reduced Fibrillin-1 may contribute to increased pelvic organ prolapse risk with age and menopause. "
5.	Ectopia Lentis 08/01/2009 - "The aim of this study was to analyze protein models of the mutation of the fibrillin-1 (FBN1) gene on Arg545Cys and Arg1530Cys which have been reported to cause predominant ectopia lentis in Chinese patients. " 02/01/1994 - "Ectopia lentis (EL), a dominantly inherited connective tissue disorder, has been genetically linked to the fibrillin gene on chromosome 15 (FBN1) in earlier studies. " 12/15/2015 - "Mutations in human ADAMTSL4, encoding an ADAMTS-like protein which has been implicated in fibrillin microfibril biogenesis, cause ectopia lentis (EL) and EL et pupillae. " 02/01/2015 - "Identification of a fibrillin-1 gene mutation in a monozygotic twin presenting with bilateral juvenile-onset ectopia lentis." 12/01/2013 - "The presence of fibrillin 2 in the murine zonule and an intact zonule in Fbn1-knockout mice may limit the utility of rodent models for studying ectopia lentis in MFS."

Related Drugs and Biologics

1.	Elastin
2.	DNA (Deoxyribonucleic Acid)
3.	fibrillin
4.	Transforming Growth Factor beta (TGF-beta)
5.	Proteins (Proteins, Gene)
6.	microfibrillar protein
7.	Antibodies
8.	Collagen Type I (Type I Collagen)
9.	Collagen
10.	Glycoproteins (Glycoprotein)

Related Therapies and Procedures

1.	Lenses