Zobrazeno 1 - 10
of 1 381
pro vyhledávání: '"fbn1"'
Publikováno v:
Open Medicine, Vol 19, Iss 1, Pp 283-302 (2024)
Sporadic thoracic aortic aneurysm and dissection (sTAAD) is a complicated vascular disease with a high mortality rate. And its genetic basis has not been fully explored.
Externí odkaz:
https://doaj.org/article/94d1d709e8dd404e9e6c198a9a3216dd
Autor:
Sen Zhang, Li-Na Dai, Qi Yin, Xiao-Ping Kang, Dan-Dan Zeng, Tao Jiang, Guang-Yu Zhao, Xiao-He Li, Jing Li
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
IntroductionScoliosis is a pathological spine structure deformation, predominantly classified as “idiopathic” due to its unknown etiology. However, it has been suggested that scoliosis may be linked to polygenic backgrounds. It is crucial to iden
Externí odkaz:
https://doaj.org/article/0419c50f43c94e54be042261b50b364f
Publikováno v:
Stem Cell Research, Vol 80, Iss , Pp 103518- (2024)
Marfan syndrome (MFS) is a hereditary condition caused by mutations in the FBN1 gene. Genetic mutations in the FBN1 locus impact the function of the encoded protein, Fibrillin 1, a structural molecule forming microfibrils found in the connective tiss
Externí odkaz:
https://doaj.org/article/ec67769c98ae4e5397141702597cad02
Autor:
Ying Bai, Yue Sun, Chenguang Yu, Yanjie Xia, Jing Wu, Li Wang, Yong Gao, Xin Tu, Xiangdong Kong
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)
Abstract Background Marfan syndrome (MFS) is an autosomal dominant connective tissue disease with wide clinical heterogeneity, and mainly caused by pathogenic variants in fibrillin-1 (FBN1). Methods A Chinese 4-generation MFS pedigree with 16 family
Externí odkaz:
https://doaj.org/article/e2dfdbfc005a4eea8e99a59a626e9b05
Autor:
Ester Capecchi, Roberta Villa, Alessandro Pini, Maria Iascone, Laura Messina, Paola Francesca Ajmone, Fabio Mosca, Silvana Gangi, Maria Francesca Bedeschi
Publikováno v:
Italian Journal of Pediatrics, Vol 50, Iss 1, Pp 1-6 (2024)
Abstract Background congenital diaphragmatic hernia (CDH) is a birth defect occurring in isolated or syndromic (chromosomal or monogenic) conditions. The diaphragmatic defect can be the most common one: left-sided posterolateral, named Bochdalek hern
Externí odkaz:
https://doaj.org/article/75390b1be2584519bcf34ff6a4e4f2e3
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 9, Pp n/a-n/a (2024)
ABSTRACT Background Marfan syndrome (MFS) is a complex genetic systemic connective tissue disorder. It is well known that genetic factors play a critical role in the progression of MFS, with nearly all cases attributed to variants in the FBN1 gene. M
Externí odkaz:
https://doaj.org/article/5d6e0a07a49242199adf89ff5d770152
Publikováno v:
Ophthalmology Science, Vol 4, Iss 5, Pp 100526- (2024)
Purpose: Marfan syndrome (MFS) is a connective tissue disorder caused by mutations in the fibrillin-1 ( (FBN1). In addition to typical phenotypes such as ectopia lentis (EL) and aortic dilation, patients with MFS are prone to ocular posterior segment
Externí odkaz:
https://doaj.org/article/b055ee217b5c41ae9e9837d2ef554091
Publikováno v:
Clinical and Translational Discovery, Vol 4, Iss 4, Pp n/a-n/a (2024)
Abstract Background Aortic dissection (AD) is a lethal cardiovascular emergency involving high mortality and disability. However, its specific pathogenesis remains to be elucidated. Methods A bibliometric analysis based on the Web of Science database
Externí odkaz:
https://doaj.org/article/aa8bb48f1737459bba7f277c94219a46
Autor:
Dongming Han, Ziwei Wang, Xuan Chen, Zijia Liu, Zhengtao Yang, Yixi Chen, Peiyi Tian, Jiankang Li, ZhuoShi Wang
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 7, Pp n/a-n/a (2024)
Abstract 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). Other associated g
Externí odkaz:
https://doaj.org/article/d957e61106ff43f28e02d0d73d1b8596
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
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. Besides phenotypic simil
Externí odkaz:
https://doaj.org/article/f91a5afc7b0b469fa1e2fac26f7108ae