Results 31 to 40 of about 9,183 (184)

A Recurring FBN1 Gene Mutation in Neonatal Marfan Syndrome [PDF]

Archives of Pediatrics & Adolescent Medicine, 2002
Marfan syndrome is an autosomal dominant disorder of connective tissue caused by mutations in the fibrillin 1 gene (FBN1). FBN1 mutations have been associated with a broad spectrum of phenotypes. Neonatal Marfan syndrome has unique clinical manifestations and mutations.To determine if there is a discernible genotypic-phenotypic correlation associated ...
Amanda M, Jacobs, Ivanka, Toudjarska, Andrew, Racine, Petros, Tsipouras, Michael W, Kilpatrick, Alan, Shanske   +5 more
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Retracted: Long non‐coding RNA PGM5‐AS1 promotes epithelial‐mesenchymal transition, invasion and metastasis of osteosarcoma cells by impairing miR‐140‐5p‐mediated FBN1 inhibition

Molecular Oncology, 2020
Osteosarcoma is an uncommon tumor occurring in bone, accompanied by elevated incidence and reduced rate of healing. Epithelial‐to‐mesenchymal transition (EMT) serves as a conceptual paradigm to explain the invasion and metastasis of osteosarcoma and ...
Wei Liu, Pengcheng Liu, Hang Gao, Xu Wang, Ming Yan   +4 more
doaj   +1 more source

FBN1 contributing to familial congenital diaphragmatic hernia [PDF]

American Journal of Medical Genetics Part A, 2015
Congenital diaphragmatic hernia (CDH) is a relatively common, life‐threatening birth defect. We present a family with recurrent CDH—paraesophageal and central—for whom exome sequencing (ES) revealed a frameshift mutation (c.4969_4970insA, p.Ile1657Asnfs*30) in the fibrillin 1 gene (FBN1) that causes Marfan syndrome.
Tyler F, Beck, Philippe M, Campeau, Shalini N, Jhangiani, Tomasz, Gambin, Alexander H, Li, Reem, Abo-Zahrah, Valerie K, Jordan, Andres, Hernandez-Garcia, Wojciech K, Wiszniewski, Donna, Muzny, Richard A, Gibbs, Eric, Boerwinkle, James R, Lupski, Brendan, Lee, Willie, Reardon, Daryl A, Scott   +15 more
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Role and significance of asprosin in feeding behaviour and metabolism

Кубанский научный медицинский вестник, 2020
This article presents a review of available information on asprosin — a hormone of white adipose tissue discovered in 2016. The history of its discovery, as well as its action mechanisms and main targets are examined.
Rustam H. Salimkhanov, Vladislav R. Sharifullin, Yulia R. Kushnareva, Azamat Kh. Kade, Pavel P. Polyakov   +4 more
doaj   +1 more source

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

European Journal of Human Genetics, 2008
Fibrillin-1 is a multifunctional extracellular protein encoded by the FBN1 gene. FBN1 is 237 kb in size and is located on chromosome 15q21. FBN1 mutations are known to cause Marfan syndrome and other fibrillinopathies. FBN1 is composed of 65 exons and 3 additional alternatively spliced exons at the 5' end.
Krishna Kumar, Singh, Praphulla Chandra, Shukla, Joerg, Schmidtke   +2 more
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Geleophysic dysplasia caused by a mutation in FBN1: A case report

World Journal of Clinical Cases, 2021
Geleophysic dysplasia (GD) presents the characterized clinical manifestations of acromelic dysplasia, including extremely short stature, short limbs, small hands and feet, stubby fingers and toes, joint stiffness and others. It is clinically distinct from the other acromelic dysplasia in terms of symptoms such as cardiac valvular abnormalities ...
Tao, Ying, Wei, Qing, Chen, Xun, Nong, Guang-Min   +3 more
openaire   +2 more sources

A familial case of Marfan syndrome: a novel variant in the FBN1 gene

RUDN Journal of Medicine
Marfan syndrome is a hereditary connective tissue disorder characterized by marked pleiotropy and clinical variability. The main disease manifestations involve three systems: skeletal, ocular, and cardiovascular.
Vsevolod I. Stepanenko, Irina Z.H. Zhalsanova, Elizaveta A. Fonova, Daria N. Erburova, Sofia N. Gosudarkina, Ekaterina G. Ravzhaeva, Svetlana V. Fadyushina, Anastasiya A. Nikitina, Gulnara N. Seitova, Olesya I. Klimchuk, Vadim A. Stepanov, Nikolay A. Skryabin   +11 more
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A novel mutation in FBN1 gene in autosomal dominant Marfan syndrome and macular degeneration in a Chinese consanguineous family [PDF]

International Journal of Ophthalmology, 2019
AIM: To report a novel mutation in FBN1 gene in a Chinese consanguineous family with common Marfan syndrome (MFS) phenotype and an unusual bilateral macular degeneration.
Ping-Bo Ouyang, Yuan Zhao, Ying-Qian Peng, Lu-Si Zhang, Jian Cao, Yun Li   +5 more
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Genotype-phenotype correlations of marfan syndrome and related fibrillinopathies: Phenomenon and molecular relevance

Frontiers in Genetics, 2022
Marfan syndrome (MFS, OMIM: 154700) is a heritable multisystemic disease characterized by a wide range of clinical manifestations. The underlying molecular defect is caused by variants in the FBN1. Meanwhile, FBN1 variants are also detected in a spectrum
Ze-Xu Chen, Ze-Xu Chen, Ze-Xu Chen, Wan-Nan Jia, Wan-Nan Jia, Wan-Nan Jia, Yong-Xiang Jiang, Yong-Xiang Jiang, Yong-Xiang Jiang   +8 more
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A Review of Three Chinese Cases of Acromicric/Geleophysic Dysplasia with FBN1 Mutations

International Journal of General Medicine, 2021
Yan-Chun Shan, Zhao-Chuan Yang, Liang Ma, Ni Ran, Xue-Ying Feng, Xiao-Mei Liu, Peng Fu, Ming-Ji Yi Department of Child Health Care, Pediatric Center, Affiliated Hospital of Qingdao University, Qingdao, 266003, People’s Republic of ...
Shan YC, Yang ZC, Ma L, Ran N, Feng XY, Liu XM, Fu P, Yi MJ   +7 more
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