Results 111 to 120 of about 10,344 (220)

IMPAIRED ENDOTHELIAL CELL MECHANOTRANSDUCTION IN AN ENGINEERED IN VITRO MODEL OF FBN1 DEFICIENCY

The cardiovascular system plays an integral role in the functioning of every organ system in the human body by providing a transportation vehicle for the delivery of nutrients, regulators of metabolism, growth, and immune effector populations.
Hall, Franklyn Douglas
core   +1 more source

Targeted next‐generation sequencing reveals the genetic mechanism of Chinese Marfan syndrome cohort with ocular manifestation

Molecular Genetics & Genomic Medicine
Background Marfan syndrome (MFS) is a hereditary connective tissue disorder involving multiple systems, including ophthalmologic abnormalities. Most cases are due to heterozygous mutations in the fibrillin‐1 gene (FBN1).
Dongming Han, Ziwei Wang, Xuan Chen, Zijia Liu, Zhengtao Yang, Yixi Chen, Peiyi Tian, Jiankang Li, ZhuoShi Wang   +8 more
doaj   +1 more source

Μελέτη της γονιδιακής έκφρασης της Φιμπριλίνης-1 (FBN1) σε ακανθοκυτταρικά καρκινώματα στόματος

, 2017
Η φιμπριλίνη 1 (Fbn1) είναι μία μεγάλη γλυκοπρωτεΐνη που αποτελεί βασικό δομικό συστατικό της εξωκυττάριας μήτρας και τα μικροϊνίδιά της προσδίδουν ελαστικότητα στους ιστούς και συμμετέχουν σε μονοπάτια σηματοδότησης διαφόρων αυξητικών παραγόντων ...
Γκατζογιάννη Μαργαρίτα, Gkatzogianni Margarita   +1 more
core  

Immunohistochemical profiles of LOXL-1, FBN1, TGF-β1, and COX-2 in pseudoexfoliation syndrome

, 2017
Purposes: To (i) determine expression patterns of lysyl oxidase-like 1 (LOXL1), fibrillin-1 (FBN1), transforming growth factor beta-1 (TGF-β1), and cyclooxygenase-2 (COX-2) in lens epithelium and anterior lens capsule in pseudoexfoliation (PEX) syndrome ...
Papadopoulou, Margarita, Παπαδοπούλου, Μαργαρίτα   +1 more
core   +1 more source

Identification and functional validation of a novel FBN1 variant in a Marfan syndrome family using a zebrafish model

BMC Genomics
Background Marfan syndrome (MFS) is an inherited autosomal dominant disorder that affects connective tissue with an incidence of about 1 in 5,000 to 10,000 people. 90% of MFS is caused by mutations in the fibrillin-1 (FBN1) gene.
Shitong Huang, Jiansong Chen, Qiuyu Wang, Ruyue Zhang, Jian Zhuang, Ruiyuan Huang, Changjiang Yu, Miaoxian Fang, Haishan Zhao, Liming Lei   +9 more
doaj   +1 more source

Characterization of Two Novel Intronic Variants Affecting Splicing in FBN1-Related Disorders

, 2019
FBN1 encodes fibrillin 1, a key structural component of the extracellular matrix, and its variants are associated with a wide range of hereditary connective tissues disorders, such as Marfan syndrome (MFS) and mitral valve–aorta–skeleton ...
Alessandro Ferraris, Paola Grammatico, Marco Castori, Silvia Morlino, Lucia Micale, Carmela Fusco   +5 more
core   +1 more source

Generation of an induced pluripotent stem cell line, JHUi006-A, from a Marfan Syndrome patient harboring a pathogenic c.5225-2A > C intronic splicing variant

Stem Cell Research
Marfan Syndrome, a heritable connective tissue disorder caused by mutations within the fibrillin-1 (FBN1) gene, can have deleterious effects on heart and aorta, eyes, the skeletal system and bone.
Franklyn D. Hall, III, Christine Miller, Sharon Gerecht, Kenneth R. Boheler   +3 more
doaj   +1 more source

Síndrome de Marfan, mutaciones nuevas y modificadoras del gen FBN1: new mutations of the FBN1 gene

, 2014
El síndrome de Marfan (SM) es un trastorno sistémico causado por mutaciones en la proteína de la matriz extracelular fibrilina 1 (FBN1). Con un patrón de herencia autosómico dominante, los pacientes se caracterizan por presentar compromiso ocular, cardiovascular y esquelético dentro de un espectro clínico variable.
Muñoz Sandoval, Juan, Saldarriaga-Gil, Wilmar, Isaza de Lourido, Carolina   +2 more
openaire   +1 more source

FBN1 Gene [PDF]

, 2020
openaire   +1 more source

Case Report: Two different acromelic dysplasia phenotypes in a Chinese family caused by a missense mutation in FBN1 and a literature review

Frontiers in Pediatrics
BackgroundAcromelic dysplasia caused by FBN1 mutation includes acromicric dysplasia (AD), geleophysic dysplasia 2 (GD2), and Weill-Marchesani syndrome 2 (WMS2). All three diseases share severe short stature and brachydactyly.
Fengyan Tian, Xiao Dong, Ruyue Yuan, Xiaohan Hou, Jing Qing, Yani Li   +5 more
doaj   +1 more source