Results 51 to 60 of about 9,471 (216)

Cardiovascular manifestations in men and women carrying a FBN1 mutation [PDF]

European Heart Journal, 2010
In patients with Marfan syndrome and other type-1 fibrillinopathies, genetic testing is becoming more easily available, leading to the identification of mutations early in the course of the disease. This study evaluates the cardiovascular (CV) risk associated with the discovery of a fibrillin-1 (FBN1) mutation.A total of 1,013 probands with pathogenic ...
Detaint, Delphine, Faivre, Laurence, Collod-Beroud, Gwenaelle, Child, Anne, Loeys, Bart L, Binquet, Christine, Gautier, Élodie, Arbustini, Eloisa, Mayer, Karin, Arslan-Kirchner, Mine, Stheneur, Chantal, Halliday, Dorothy, Béroud, Christophe, Bonithon-Kopp, Claire, Claustres, Mireille, Plauchu, Henri, Robinson, Peter N, Kiotsekoglou, Anatoli, de Backer, Julie, Ades, Lesley, Francke, Uta, de Paepe, Anne, Boileau, Catherine, Jondeau, Guillaume   +23 more
openaire   +4 more sources

Novel p.G1344E mutation in FBN1 is associated with ectopia lentis [PDF]

British Journal of Ophthalmology, 2020
BackgroundEctopia lentis refers to dislocation or subluxation of the crystalline lens. Fibrillin-1, encoded by FBN1, is an important microfibrillar structural component that is specifically required for the suspensory ligament of the lens. FBN1 mutations may cause abnormal structure of microfibrils and has been associated with a broad spectrum of ...
Yuan Yang, Ya-li Zhou, Teng-teng Yao, Hui Pan, Ping Gu, Zhao-yang Wang   +5 more
openaire   +2 more sources

An integrative computational analysis provides evidence for FBN1-associated network deregulation in trisomy 21

Biology Open, 2013
Summary Although approximately 50% of Down Syndrome (DS) patients have heart abnormalities, they exhibit an overprotection against cardiac abnormalities related with the connective tissue, for example a lower risk of coronary artery disease.
Mireia Vilardell, Sergi Civit, Ralf Herwig   +2 more
doaj   +1 more source

GOT1 Inhibition Induces Extracellular Matrix Remodeling in Pancreatic Cancer

Advanced Science, EarlyView.
Using tumor tissue engineering, we recreated pancreatic cancer and found that inhibiting glutamic‐oxaloacetic transaminase 1 (GOT1) induces extracellular matrix remodeling and secretome rewiring, as well as promotes cell death. ABSTRACT Pancreatic cancer cells rely on glutamine to sustain their survival in the stiff and poorly vascularized tumor ...
Rodrigo Curvello, Sandra Hauser, Michael Seifert, Christopher K. Barlow, Joel R. Steele, Emma Salisbury, Daniel Croagh, Kathryn S. Stok, Anna V. Taubenberger, Ralf B. Schittenhelm, Daniela Loessner   +10 more
wiley   +1 more source

Interpretation of sequence variants of the FBN1 gene: analog or digital? A commentary on decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants [PDF]

Journal of Human Genetics, 2015
Interpretation of sequence variants of the FBN1 gene: analog or digital? A commentary on decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 ...
Yskert, von Kodolitsch, Kerstin, Kutsche
openaire   +2 more sources

Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene

Molecular Cytogenetics, 2012
Background The majority of Marfan syndrome (MFS) cases is caused by mutations in the fibrillin-1 gene (FBN1), mapped to chromosome 15q21.1. Only few reports on deletions including the whole FBN1 gene, detected by molecular cytogenetic techniques, were ...
Colovati Mileny ES, da Silva Luciana RJ, Takeno Sylvia S, Mancini Tatiane I, N Dutra Ana R, Guilherme Roberta S, de Mello Cláudia B, Melaragno Maria I, A Perez Ana B   +8 more
doaj   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Clinical and genetic findings in Chinese families with congenital ectopia lentis

Molecular Genetics & Genomic Medicine, 2023
Background Congenital ectopia lentis (EL) refers to the congenital dysplasia or weakness of the lens suspensory ligament, resulting in an abnormal position of the crystalline lens, which can appear as isolated EL or as an ocular manifestation of a ...
Xin Liu, Liman Niu, Liyun Zhang, Liqiong Jiang, Kaiqing Liu, Xueping Wu, Xinhua Liu, Jiantao Wang   +7 more
doaj   +1 more source

Integrative single cell RNA‐sequencing and spatial transcriptomics uncovers distinct macrophage‐fibroblast cross‐talk in human hip synovium between patients with femoroacetabular impingement and osteoarthritis

Arthritis &Rheumatology, Accepted Article.
Objectives Femoroacetabular impingement (FAI) and synovitis have been recognized as essential factors for developing osteoarthritis (OA) in the hip joints. However, little is known about altered synovial cellular compositions, their associated transcriptomic profiles, and cell‐cell interactions in FAI and hip OA.
Gulzada Kulzhanova, Alexis Klee, Mina Botros, Victoria L. Hansen, John Reuter, Eliya Tazreena Tashbib, Eloise Fadial, Benjamin F. Ricciardi, Brian Giordano, Chia‐Lung Wu   +9 more
wiley   +1 more source

FBN1 mutations in patients with descending thoracic aortic dissections [PDF]

American Journal of Medical Genetics Part A, 2010
AbstractAortic aneurysm and dissection cause significant morbidity and mortality. There are several known single gene disorders that predispose to isolated aortic disease and eventually aneurysm and dissection. FBN1 mutations are associated with multiple clinical phenotypes, including Marfan syndrome (MFS), MASS phenotype, and familial ectopia lentis ...
Ariel, Brautbar, Scott A, LeMaire, Luis M, Franco, Joseph S, Coselli, Dianna M, Milewicz, John W, Belmont   +5 more
openaire   +2 more sources