Keywords: AA; aortic aneurysm; TAA; thoracic aortic aneurysms; AAA; abdominal aortic aneurysm; TAAD; thoracic aortic aneurysms and dissections; FBN1; Fibrillin 1; MFAP5; Microfibril associated protein 5; SMC; smooth muscle cell; MFS; Marfan syndrome; MYH11; myosin
مقالات ISI (ترجمه نشده)
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: Fbn1; fibrillin-1; MFS; Marfan syndrome; TGFβ; transforming growth factor-beta; MAGP; microfibril-associated glycoprotein; Fbn2; fibrillin-2; ECM; extracellular matrix; LTBP; latent TGFβ binding protein; BAT; brown adipose tissue; epWAT; epididymal whit
Keywords: MFS, Marfan syndrome; TGF-β, Transforming growth factor; FBN1, Fibrillin-1 gene; AT1R, Angiotensin II type 1 receptorMarfan syndrome; FBN1; Ghent revised nosology; β-Blockers; TGF β
Keywords: Decorin; Lumican; Fibromodulin; Toll-like receptor; Matrix metalloproteinases; 5/6-Nx; 5/6-nephrectomized Sprague-Dawley rats; ADAMTS; a disintegrin and metalloproteinase with thrombospondin motifs; ALK; activin like kinase; ATS; hymocyte serum; BGN (Bgn)
Keywords: Marfan syndrome; Frameshift mutation; FBN1; Autopsy
Keywords: FBN1; Marfan syndrome; Mutation; Ectopia lentis
A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia
Keywords: FBN1; Acromelic dysplasia; Acromicric dysplasia; Geleophysic dysplasia;
Marfan syndrome; A connective tissue disease at the crossroads of mechanotransduction, TGFβ signaling and cell stemness
Keywords: Cardiomyopathy; Fibrillin; Marfan syndrome; Mechanotransduction; Osteopenia; Stem cell niche; TGFβ; Thoracic aortic aneurysm; AngII; Angiotensin II; AT1r; AngII type I receptor; BMD; Bone mineral density; DCM; Dilated cardiomyopathy; ECM; Extracellular m
Functional characteristics of a novel SMAD4 mutation from thoracic aortic aneurysms (TAA)
Keywords: AA; aortic aneurysm; TAA; thoracic aortic aneurysms; TGF-β; transforming growth factor β; R-Smads; receptor-regulated Smads; FBN1; fibrillin-1; TGFBR1; TGF-β receptor 1; TGFBR2; TGF-β receptor 2; TGFB2; transforming growth factor beta 2; TGFB3; transf
Gross deletions in FBN1 results in variable phenotypes of Marfan syndrome
Keywords: Marfan syndrome; MLPA; FBN1; Gross deletion; Phenotype; cbEGF; Calcium-binding EGF-like domains; TB; TGFβ binding domains; CNVs; copy number variations; FBN1; fibrillin-1; MFS; Marfan syndrome; MLPA; multiplex ligation-dependent probe amplification; PGM;
NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield
Keywords: Ectopia lentis; Next generation sequencing; Gene panel; ADAMTSL4; FBN1;
Mitral valve prolapse syndrome and MASS phenotype: Stability of aortic dilatation but progression of mitral valve prolapse
Keywords: Aorta; Aneurysm; Mitral valve; Marfan syndrome; Echocardiography; FBN1
Ascribing novel functions to the sarcomeric protein, myosin binding protein H (MyBPH) in cardiac sarcomere contraction
Keywords: MyBPH; myosin binding protein H; cMyBPC; cardiac myosin binding protein C; LVH; left ventricular hypertrophy; HCM; hypertrophic cardiomyopathy; ALP; autophagy-lysosome pathway; AbA; Aureobasidin A; HIS3; imidazoleglycerolphosphate dehydratase; ADE2; phosp
Opposing roles of miR-21 and miR-29 in the progression of fibrosis in Duchenne muscular dystrophy
Keywords: α-SMA; α-smooth muscle actin; COL1A1; collagen type I alpha 1; COL3A1; collagen type III alpha 1; COL6A1; collagen type VI alpha 1; DMD; Duchenne muscle dystrophy; ECM; extracellular matrix; ERK; extracellular signal-regulated kinase; FBN1; fibrillin 1;
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)
Keywords: Marfan Syndrome; Loeys-Dietz Syndrome; Thoracic Aortic Aneurysms and Dissections; FBN1; Aortic aneurysms;
Dilation of peripheral vessels in Marfan syndrome: Importance of thoracoabdominal MR angiography
Keywords: AHA/ACC; American Heart Association/American College of Cardiology; ASE; American Society of Echocardiography; BSA; body surface area; EDS; Ehlers-Danlos syndrome; FBN1; fibrillin-1 gene; LDS; Loeys-Dietz syndrome; MFS; Marfan syndrome; MRA; magnetic
MicroRNA-29 family, a crucial therapeutic target for fibrosis diseases
Keywords: miR-29 family; Extracellular matrix; Fibrosis diseases; Review; miRNA; microRNA; ECM; extracellular matrix; MMPs; matrix metalloproteinases; HSC; hepatic stellate cell; COL; collagens; α-SMA; α-smooth muscle actin; TGF-β; transforming growth factor-β;
FBN1 gene mutation characteristics and clinical features for the prediction of mitral valve disease progression
Keywords: Mitral valve prolapse; Marfan syndrome; FBN1; Genotype; Prediction;
Regulation of fibrillin-1 gene expression by Sp1
Keywords: MFS, Marfan syndrome; FBN1, fibrillin-1; SUPR, short ultraconserved promoter region; Inr, Initiator; DPE, downstream promoter element; Sp1, specificity protein 1; PARP1, Poly [ADP-ribose] polymerase 1Marfan syndrome; FBN1; fibrillin-1; Sp1; PARP1
Co-occurrence of Marfan syndrome and schizophrenia: What can be learned?
Keywords: Marfan syndrome; Schizophrenia; FBN1; TGF-β
Mammalian ER stress sensor IRE1β specifically down-regulates the synthesis of secretory pathway proteins
Keywords: ER; endoplasmic reticulum; UPR; unfolded protein response; hIRE1; human inositol-requiring enzyme 1; hPERK; human PKR-like endoplasmic reticulum kinase; FBLN1; fibulin 1; B2M; beta-2-microglobulin; FBN1; fibrillin 1; CD59; CD59 molecule, complement regula
Extreme oral manifestations in a Marfan-type syndrome
Keywords: marfan syndrome; Loeys–Dietz syndrome; dental crowding; supernumerary teeth; pulpoliths; FBN1; TGF-beta sub-unit receptors
A genome-wide association study of bipolar disorder in Norwegian individuals, followed by replication in Icelandic sample
Keywords: Bipolar disorders; 13q14.1–q14.3; DLEU2; GUCY1B2; PKIA; CNTNAP5; CCL2; FBN1
Paucity of skeletal manifestations in hispanic families with FBN1 mutations
Keywords: FBN1; Fibrillin-1; Hispanic; Marfan syndrome
Recent molecular biological progress in Marfan syndrome and Marfan-associated disorders
Keywords: Marfan syndrome; Ageing; FBN1; TGFBR1; TGFBR2; Pathogenic mechanism
Genetic Testing in Aortic Aneurysm Disease: PRO
Keywords: Familial thoracic aortic aneurysm and dissection; Marfan syndrome; Loeys Dietz syndrome; FBN1; TGFBR1; TGFBR2; MYH11; ACTA2;
Multi-exon out of frame deletion of the FBN1 gene leading to a severe juvenile onset cardiovascular phenotype in Marfan syndrome
Keywords: Large rearrangement; FBN1; FISH; Southern blot; Marfan syndrome; Juvenile onset cardiovascular phenotype