|1.||Marfan Syndrome (Marfan's Syndrome)
|2.||Aortic Aneurysm (Aneurysm, Aortic)
|4.||Funnel Chest (Pectus Excavatum)
|1.||Dietz, Harry C: 11 articles (02/2015 - 04/2006)|
|2.||Loeys, Bart L: 7 articles (06/2013 - 08/2006)|
|3.||von Kodolitsch, Yskert: 5 articles (03/2015 - 07/2010)|
|4.||Morisaki, Takayuki: 5 articles (06/2014 - 08/2007)|
|5.||Robinson, Peter N: 4 articles (11/2014 - 07/2010)|
|6.||Morisaki, Hiroko: 4 articles (11/2012 - 08/2007)|
|7.||Braverman, Alan C: 3 articles (09/2015 - 08/2006)|
|8.||Oswald, Gretchen: 3 articles (02/2015 - 08/2012)|
|9.||Myers, Loretha: 3 articles (02/2015 - 08/2012)|
|10.||Schepers, Dorien: 3 articles (02/2015 - 08/2012)|
|1.||Transforming Growth Factor beta (TGF-beta)IBA
05/01/2015 - "Loeys-Dietz syndrome (LDS) is one of marfanoid overgrowth syndromes, of which subtype IV is caused by haploinsufficiency of transforming growth factor beta 2 (TGFB2). "
01/01/2014 - "Loeys-Dietz syndrome (LDS) is a connective tissue disorder caused by monoallelic mutations in TGFBR1 and TGFBR2, which encode for subunits of the transforming growth factor beta (TGFβ) receptor. "
05/01/2009 - "Recent experimental studies reported an activation of TGF-beta in aneurysms related to Marfan (and Loeys-Dietz) syndrome. "
01/01/2014 - "Mutations in transforming growth factor beta (TGFβ) receptor type II (TGFBR2) cause Loeys-Dietz syndrome, characterized by craniofacial and cardiovascular abnormalities. "
06/01/2013 - "(2) In this review, we will discuss the clinical, molecular, and pathogenic aspects of Marfan syndrome, Loeys-Dietz syndrome and related disorders with emphasis on the role of fibrillins and TGF-beta."
|2.||1,3,4,6- tetra- O- acetyl- 2- azido- 2- deoxyglucopyranoseIBA
06/01/2014 - "In this study, patients suspected of having a clinical diagnosis of Marfan Syndrome (MFS), Loeys-Dietz Syndrome (LDS) and Thoracic Aortic Aneurysms and Dissections (TAAD) were referred for genetic testing and examined for mutations in the FBN1, TGFβR1, TGFβR2 and ACTA2 genes. "
06/01/2014 - "The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD)."
02/26/2014 - "1. Inherited syndromes predisposing to TAAD such as Marfan syndrome, Ehlers-Danlos syndrome type IV and Loeys-Dietz syndrome (less than 5% of all TAAD). "
01/01/2008 - "Thoracic aortic aneurysms leading to type A dissections (TAAD) can be inherited in isolation or in association with genetic syndromes, such as Marfan syndrome and Loeys-Dietz syndrome. "
01/01/2013 - "There are many genetic syndromes associated with the aortic aneurysmal disease which include Marfan syndrome (MFS), Ehlers-Danlos syndrome (EDS), Loeys-Dietz syndrome (LDS), familial thoracic aortic aneurysms and dissections (TAAD), bicuspid aortic valve disease (BAV), and autosomal dominant polycystic kidney disease (ADPKD). "
|3.||Transforming Growth Factor beta Receptors (TGF beta Receptors)IBA
11/01/2012 - "Loeys-Dietz syndrome (LDS) is a recently recognized connective tissue disorder (CTD) caused by mutations in transforming growth factor-beta receptor (TGFBR)1 and TGFBR2. "
04/01/2012 - "Loeys-Dietz syndrome is a recently described autosomal dominant disorder caused by mutations in the genes for transforming growth factor-beta receptor type 1 or 2 (TGF-ßR 1/2). "
03/01/2012 - "Low bone mass and high material bone density in two patients with Loeys-Dietz syndrome caused by transforming growth factor beta receptor 2 mutations."
08/04/2010 - "Loeys-Dietz syndrome is a recently recognized multisystemic disorder caused by mutations in the genes encoding the transforming growth factor-beta receptor. "
04/01/2010 - "Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome."
|4.||Transforming Growth Factors (Transforming Growth Factor)IBA
06/01/2014 - "Loeys-Dietz syndrome (LDS) is a recently recognized connective tissue disorder caused by mutations of the transforming growth factor (TGF)-β receptors. "
01/01/2014 - "The Loeys-Dietz syndrome (LDS) is an inherited connective tissue disorder caused by mutations in the transforming growth factor β (TGF-β) receptors TGFBR1 or TGFBR2. "
12/01/2013 - "Genetic testing confirmed the presence of a mutation in the TGFBR2 gene at exon 5. Loeys-Dietz syndrome is an autosomal dominant disease caused by heterozygous mutations in the genes encoding type I or II transforming growth factor-β (TGF-β) receptor. "
08/01/2012 - "Loeys-Dietz syndrome (LDS) associates with a tissue signature for high transforming growth factor (TGF)-β signaling but is often caused by heterozygous mutations in genes encoding positive effectors of TGF-β signaling, including either subunit of the TGF-β receptor or SMAD3, thereby engendering controversy regarding the mechanism of disease. "
01/01/2012 - "Transforming growth factor β signaling perturbation in the Loeys-Dietz syndrome."
|5.||Transforming Growth Factor beta3 (TGF beta 3)IBA
10/01/2015 - "Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome."
08/01/2014 - "Response to "De novo mutation of the TGFB3 latency-associated peptide domain in a patient with overgrowth and Loeys-Dietz syndrome features"."
08/01/2014 - "De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features."
08/01/2013 - "A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome."
|6.||Neuraminidase deficiency with beta-galactosidase deficiencyIBA
02/01/2015 - "Shprintzen-Goldberg syndrome (SGS) is a rare, systemic connective tissue disorder characterized by craniofacial, skeletal, and cardiovascular manifestations that show a significant overlap with the features observed in the Marfan (MFS) and Loeys-Dietz syndrome (LDS). "
03/01/2014 - "Therefore, like Marfan syndrome and Loeys-Dietz syndrome, Shprintzen-Goldberg syndrome is likely caused by deregulated TGFβ signals, explaining the considerable phenotypic overlap between these three disorders. "
01/01/2015 - "They include Loeys-Dietz syndrome, Shprintzen-Goldberg syndrome, aneurysm-osteoarthritis syndrome and syndromic thoracic aortic aneurysms. "
08/01/2007 - "There are several syndromes associated with mutations in TGFBR genes, including Loeys-Dietz syndrome (LDS), MFS2, Furlong syndrome, and Shprintzen-Goldberg syndrome. "
|7.||glucuronyl glucosamine glycan sulfate (Vessel)IBA
05/01/2011 - "Loeys-Dietz syndrome (LDS) is a recently identified genetic complex characterized in part by rapidly progressive aortic and branch vessel disease. "
01/01/2014 - "Loeys-Dietz syndrome is a recently described connective tissue disorder with a natural history of extreme vessel tortuosity and aggressive arterial aneurysm formation and rupture. "
01/01/2008 - "Hereditary causes of large-artery aneurysms such as Marfan's syndrome have long been recognized; recent years have seen a greater understanding of the genetics of Marfan's and other such disorders, including Loeys-Dietz syndrome and Ehler-Danlos syndrome type IV. Under-recognized mimics of medium-vessel vasculitis include segmental arterial mediolysis and Grange syndrome. "
01/01/2010 - "Germline mutations in TGF-beta receptors or coreceptors causing Hereditary Hemorrhagic Teleangiectasia and the Loeys-Dietz syndrome underline the involvement of TGF-beta in vessel formation and maturation. "
02/01/2014 - "Hand and fibrillin-1 deposition abnormalities in Loeys-Dietz syndrome--expanding the clinical spectrum."
06/01/2013 - "Thoracic aortic aneurysm and dissection (TAAD) are associated with connective tissue disorders like Marfan syndrome and Loeys-Dietz syndrome, caused by mutations in the fibrillin-1, the TGFβ-receptor 1- and -2 genes, the SMAD3 and TGFβ2 genes, but have also been ascribed to ACTA2 gene mutations in adults, spread throughout the gene. "
06/01/2011 - "Fibroblasts derived from 12 Loeys-Dietz syndrome patients, six with TGFB-R1 mutations and six with TGFB-R2 mutations, were analyzed using RT-PCR, biochemical assays, immunohistochemistry and electron microscopy for production of elastin, fibrillin 1, fibulin 1 and fibulin 4 and deposition of collagen type I. All LDS fibroblasts with TGFβ-R1 mutations demonstrated decreased expression of elastin and fibulin 1 genes and impaired deposition of elastic fibers. "
06/01/2011 - "Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment?"
03/01/2015 - "In this review we will summarize the measures of joint hypermobility, illustrate molecular mechanisms these groups of disorders have in common, and subsequently discuss the clinical features of: 1) the most common connective tissue disorders with myopathic or other neuromuscular features: Ehlers-Danlos syndrome, Marfan syndrome and Loeys-Dietz syndrome; 2) myopathy and connective tissue overlap disorders (muscle extracellular matrix (ECM) disorders), including collagen VI related dystrophies and FKBP14 related kyphoscoliotic type of Ehlers-Danlos syndrome; and 3) various (congenital) myopathies with prominent joint hypermobility including RYR1- and SEPN1-related myopathy. "
05/01/2012 - "The two patients who met the Ghent nosology criteria, but not the criteria of the revised Ghent nosology were diagnosed with Loeys-Dietz syndrome and MASS phenotype. "
07/01/2010 - "These patients comprised 9 persons with MFS-like habitus, 6 with a bicuspid aortic valve (BAV), 5 with MASS phenotype, 3 with vascular type of Ehlers-Danlos syndrome (EDS), 3 with familial thoracic aortic aneurysm, 2 with Loeys-Dietz syndrome (LDS), 1 with mitral valve prolapse syndrome, 1 with familial ectopia lentis, and 48 persons with Marfan-like features but no defined syndrome. "
03/01/2015 - "First implantation of Gore Hybrid Vascular Graft in the right vertebral artery for cerebral debranching in a patient with Loeys-Dietz syndrome."
01/01/2014 - "He had pectus excavatum associated with Loeys-Dietz syndrome and a history of redo aortic root replacement with the modified Bentall technique using an 8-mm long interposed graft to the left coronary ostium. "
|3.||Angioplasty (Angioplasty, Transluminal)