Results 121 to 130 of about 18,239 (220)

Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome [PDF]

, 2015
Three international nosologies have been proposed for the diagnosis of Marfan syndrome (MFS): the Berlin nosology in 1988; the Ghent nosology in 1996 (Ghent-1); and the revised Ghent nosology in 2010 (Ghent-2).
Bannas, Peter, Behzadi, Cyrus, Bernhardt, Alexander M, Blankenberg, Stefan, De Backer, Julie, Fuisting, Bettina, Hillebrand, Mathias, Kölbel, Tilo, Püschel, Klaus, Robinson, Peter N, Rybczynski, Meike, Schüler, Helke, Sheikhzadeh, Sara, von Kodolitsch, Yskert   +13 more
core   +2 more sources

Trichostatin A Sensitizes Tumor Cells to Apoptosis Induced by Soluble Trimeric TRAIL‐Expressing Human Mesenchymal Stromal Cells

Cancer Science, Volume 117, Issue 2, Page 456-467, February 2026.
Human mesenchymal stromal cells (MSCs) were engineered to secrete an isoleucine‐zippered soluble trimeric TRAIL (SCZT) and evaluated with trichostatin A (TSA) to overcome TRAIL resistance. TSA upregulated DR5 and amplified caspase‐8–dependent apoptosis in vitro; in vivo, tumor‐homing MSCs combined with TSA suppressed the growth of both TRAIL‐sensitive ...
Ryosuke Uchibori, Ken Ohmine, Keiya Ozawa   +2 more
wiley   +1 more source

Molecular evaluation of the great vessels of patients with bicuspid aortic valve disease Análise molecular dos grandes vasos da base em portadores de valva aórtica bicúspide

Brazilian Journal of Cardiovascular Surgery, 2003
PURPOSE: Bicuspid aortic valve (BAV) is associated with increased prevalence of annulo-aortic ectasia, dissection and ascending aortic aneurysm. This study was undertaken to compare the amount of fibrillin-1 and elastin in the media of great vessels of ...
Mauro Paes Leme, Tirone E. David, Jagdish Butany, Diponkar Banerjee, Eduardo S. Bastos, Sylvio C. Provenzano, Leôncio A. Feitosa, Henrique Murad, Monica M. Ferreira Magnanini   +8 more
doaj   +1 more source

Pathogenic Variants in Mennonites From Southern Brazil: Implications for Preventive Measures in Public Health

Clinical Genetics, Volume 109, Issue 2, Page 266-276, February 2026.
In 325 exomes of South Brazilian Mennonites, we identified 23 pathogenic variants (P) and 27 likely P, with founder effects identified for 96% of P, whose frequencies differed from non‐Finnish Europeans, Amish, and Brazilian populations. ABSTRACT The Mennonite population has a unique history of 500 years of genetic isolation shaped by at least three ...
Luiza Beatriz Mayer de Lima, Eduardo Delabio Auer, Isabela Dall’Oglio Bucco, Valéria Bumiller‐Bini Hoch, Priscila Ianzen dos Santos, Fabiana L. Lopes, Alan Shuldiner, Emilton Lima Júnior, Angelica Beate Winter Boldt   +8 more
wiley   +1 more source

Collagen Content in Skin and Internal Organs of the Tight Skin Mouse: An Animal Model of Scleroderma. [PDF]

, 2013
The Tight Skin mouse is a genetically induced animal model of tissue fibrosis caused by a large in-frame mutation in the gene encoding fibrillin-1 (Fbn-1). We examined the influence of gender on the collagen content of tissues in C57BL/6J wild type (+/+)
Jimenez, Sergio A, Manne, Jayanthi, Markova, Marina, Siracusa, Linda D   +3 more
core   +3 more sources

Bacterial porphyrins in healthy skin: Microbiota components impact melanogenesis and age‐related processes leading to Porphyr'ageing

International Journal of Cosmetic Science, Volume 48, Issue 1, Page 186-199, February 2026.
Porphyrins, previously linked only to acne inflammation, are now implicated in skin ageing. Their presence correlates with increased melanin, inflammation, and oxidative stress, contributing to premature ageing signs. This study introduces the concept of “Porphyr'ageing,” highlighting the detrimental effects of bacterial metabolites on skin health and ...
Marie Meunier, Morgane De Tollenaere, Cyrille Jarrin, Emilie Chapuis, Marine Bracq, Laura Lapierre, Catherine Zanchetta, Jean Tiguemounine, Amandine Scandolera, Romain Reynaud   +9 more
wiley   +1 more source

Multi-exon deletions of the FBN1 gene in Marfan syndrome

BMC Medical Genetics, 2001
Background Mutations in the fibrillin -1 gene (FBN1) cause Marfan syndrome (MFS), an autosomal dominant multi-system connective tissue disorder. The 200 different mutations reported in the 235 kb, 65 exon-containing gene include only one family with a ...
Schrijver Iris, Liu Wanguo, Brenn Thomas, Furthmayr Heinz, Francke Uta   +4 more
doaj   +1 more source

Using an Unbiased Coexpression Network to Reveal Cross‐Talking Pathways of Phosphoinositide‐3‐Kinase Regulatory Subunit 1 in Skin Aging and Rejuvenation

The FASEB Journal, Volume 40, Issue 2, 31 January 2026.
Mechanistic pathways of PIK3R1 in skin aging and rejuvenation were analyzed by bioinformatics approach and Gene Expression Omnibus database. Compared with young skin, PIK3R1 was differentially expressed in aged and IPL rejuvenated skin. Coexpression and network analyses revealed that PIK3R1 jointly participated in skin aging and rejuvenation via PI3K ...
Zhike Zhou, Sha Sha, Xiangnan Zhou, Chundi He, Ting Xiao, Yan Wu, Fenqin Chen, Le Qu, Hong‐Duo Chen   +8 more
wiley   +1 more source

Aortopathy in a Mouse Model of Marfan Syndrome Is Not Mediated by Altered Transforming Growth Factor β Signaling

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2017
BackgroundMarfan syndrome (MFS) is caused by mutations in the gene encoding fibrillin‐1 (FBN1); however, the mechanisms through which fibrillin‐1 deficiency causes MFS‐associated aortopathy are uncertain. Recently, attention was focused on the hypothesis
Hao Wei, Jie Hong Hu, Stoyan N. Angelov, Kate Fox, James Yan, Rachel Enstrom, Alexandra Smith, David A. Dichek   +7 more
doaj   +1 more source

Clinical diagnostics of fibrillinopathies (type 1)

Российский кардиологический журнал, 2013
Diagnostic criteria are presented for the syndromes related to mutations of fibrillin gene type 1 (such as Marfan syndrome, ectopia lentis, MASS phenotype, mitral valve prolapse syndrome, stiff skin syndrome, Shprintzen-Goldberg syndrome) and for the ...
E. L. Trisvetova
doaj   +1 more source