Results 101 to 110 of about 9,471 (216)

Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource’s FBN1 variant curation expert panel

Genome Medicine
In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) developed standardized variant curation guidelines for Mendelian disorders. Although these guidelines have been widely adopted, they are not gene- or disease-specific.
A. Drackley, C. Somerville, P. Arnaud, L. M. Baudhuin, N. Hanna, M. L. Kluge, K. Kotzer, C. Boileau, L. Bronicki, B. Callewaert, A. Cecchi, H. Dietz, D. Guo, S. Harris, O. Jarinova, M. Lindsay, L. Little, B. Loeys, G. MacCarrick, J. Meester, D. Milewicz, T. Morisaki, H. Morisaki, D. Murdock, M. Renard, J. Richer, L. Robert, M. Ouzounian, L. Van Laer, J. De Backer, L. Muiño-Mosquera   +30 more
openaire   +4 more sources

Conservation of 5′-upstream region of the FBN1 gene in primates [PDF]

, 2008
Krishna K. Singh, Praphulla Chandra Shukla, Joerg Schmidtke   +2 more
openalex   +1 more source

FBN1 Mutation Screening in a Marfan Syndrome Patient

Medica Hospitalia : Journal of Clinical Medicine, 2017
Background : MFS is characterized by variable clinical manifestations mainly in cardiovascular, ocular, and skeletal systems. The major encoding gene of structural constituent of extracellular microfibrils is Fibrillin-1 (FBN1). Approximately 90% of MFS cases are caused by mutations in the FBN1 gene (15q21.1) and the other second is TGFBR2 (3p22) gene.
Muhammad Sungkar, Sodiqur Rifqi, Gerard Pals, Sultana Faradz, Nani Maharani, Amallia Setyawati   +5 more
openaire   +2 more sources

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

Novel FBN1 mutation in a family with inherited Marfan Syndrome: p.Cys2672Arg [PDF]

, 2017
Arda Çetinkaya, Ali̇ Karaman, Mehmet Burak Mutlu, Taner Yavuz   +3 more
openalex   +1 more source

Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects [PDF]

, 2005
Eliana Disabella, Maurizia Grasso, Nicola Marziliano, Silvia Ansaldi, C. Lucchelli, Emanuele Porcu, Marilena Tagliani, Andrea Pilotto, Marta Diegoli, Luca Lanzarini, Clara Malattia, Antonio Pelliccia, Anna Ficcadenti, Orazio Gabrielli, Eloisa Arbustini   +14 more
openalex   +1 more source

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

EBF1 Promotes the Sensitivity of Cervical Cancer Cells to Cisplatin via Activating FBN1 Transcription

, 2023
Ning Shen, Jingxia Lin, P P Liu
openalex   +2 more sources

p38 MAPK Is an Early Determinant of Promiscuous Smad2/3 Signaling in the Aortas of Fibrillin-1 (Fbn1)-null Mice [PDF]

, 2008
Luca Carta, Silvia Smaldone, Lior Zilberberg, David Loch, Harry C. Dietz, Daniel B. Rifkin, Francesco Ramirez   +6 more
openalex   +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