Results 91 to 100 of about 9,183 (184)

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

FBN1 Gene [PDF]

, 2020
openaire   +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

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

Familial Spontaneous Pneumothorax and FBN1 Mutations

American Journal of Respiratory and Critical Care Medicine, 2004
Cardy, CM, Maskell, NA, Handford, PA, Arnold, AG, Davies, RJ, Morrison, PJ, Thornley, PE   +6 more
openaire   +3 more sources

FBN1 wt Allele [PDF]

, 2020
openaire   +1 more source

FBN1 Coding Variants and Nonsyndromic Aortic Disease [PDF]

Circulation: Genomic and Precision Medicine, 2019
Scott M, Damrauer, Kara, Hardie, Rachel L, Kember, Renae, Judy, David, Birtwell, Heather, Williams, Daniel J, Rader, Reed E, Pyeritz   +7 more
openaire   +2 more sources

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

Iatreia, 2014
Introduction: Marfan syndrome (SM) is a systemic disorder caused by mutations in the extracellular matrix protein fibrillin 1 (FBN1). With a dominant autosomal pattern, penetrance near 100% and variable expressivity. It has an incidence of 2-3 cases per 10.000 individuals; the patients are characterized by presenting ocular, cardiovascular and skeletal
Sebastian Muñoz, Juan, Saldarriaga Gil, Wilmar, Isaza de Lourido, Carolina   +2 more
openaire   +1 more source

Fibrillin-1 Orchestrates a Pro-senescent Niche Driving Peritubular Endothelial Senescence via ZEB1/endothelin-1/β-catenin Signaling. [PDF]

Int J Biol Sci
Huang J, Zhang X, Yao Z, Zhang Y, Huang D, Liu Y, Hou FF, Liu Y, Li L.   +8 more
europepmc   +1 more source

Angiotensin II Induces Abdominal Aortic Branch Aneurysms in <i>Fibrillin-1</i> ^{<i>C1041G/+</i>} Mice-Brief Report. [PDF]

Arterioscler Thromb Vasc Biol
Franklin MK, Howatt DA, Moorleghen JJ, Sheppard MB, Katsumata Y, Sawada H, Lu HS, Daugherty A.   +7 more
europepmc   +1 more source