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High Dietary Inclusion of Faba Bean Improved the Meat Quality of Pacific White Shrimp, <i>Litopenaeus vannamei</i>, Rather Than the Growth Performance. [PDF]
Aquac NutrGan Z, Xu Y, Fei X, Li X, Leng X.
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Marfan syndrome: insights from animal models. [PDF]
Front GenetJiang Y, Jia P, Feng X, Zhang D.
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Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2
European Journal of Medical Genetics, 2021Fibrillin-2, encoded by FBN2, plays an important role in the early process of elastic fiber assembly. To date, heterozygous pathogenic variants in FBN2 have been shown to cause congenital contractural arachnodactyly (CCA; Beals-Hecht syndrome). Classical CCA is characterized by long and slender fingers and toes, ear deformities, joint contractures at ...
Katja Kloth +5 more
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Nature Genetics, 1995
Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder that is phenotypically similar to Marfan syndrome (MFS) and characterized by arachnodactyly, dolichostenomelia, scoliosis, multiple congenital contractures and abnormalities of the external ears. In contrast to MFS, CCA does not affect the aorta or the eyes.
Francesco Ramirez, Dianna M Milewicz
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Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder that is phenotypically similar to Marfan syndrome (MFS) and characterized by arachnodactyly, dolichostenomelia, scoliosis, multiple congenital contractures and abnormalities of the external ears. In contrast to MFS, CCA does not affect the aorta or the eyes.
Francesco Ramirez, Dianna M Milewicz
exaly +3 more sources
Aberrant methylation of FBN2 in human non-small cell lung cancer
Lung Cancer, 2005FBN2, a large modular extracellular matrix glycoprotein, is known to be a key component of human elastic fiber. A loss of FBN2 expression due to promoter methylation was recently identified in pancreatic cancer. We examined FBN2 expression by reverse transcription PCR and aberrant methylation of FBN2 by methylation specific PCR in lung cancer cell ...
Takahiro Nakajima
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Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis [PDF]
Human Molecular Genetics, 2014 Adolescent idiopathic scoliosis (AIS) causes spinal deformity in 3% of children. Despite a strong genetic basis, few genes have been associated with AIS and the pathogenesis remains poorly understood. In a genome-wide rare variant burden analysis using exome sequence data, we identified fibrillin-1 (FBN1) as the most significantly associated gene with ...
Alan C Braverman +2 more
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Exome Sequencing Identified a Novel FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly [PDF]
International Journal of Molecular Sciences, 2017 Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder of connective tissue. CCA is characterized by arachnodactyly, camptodactyly, contrature of major joints, scoliosis, pectus deformities, and crumpled ears. The present study aimed to identify the genetic cause of a three-generation Chinese family with CCA.
Guoling You
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Connective Tissue ResearchCongenital contractural arachnodactyly (CCA) is an extremely rare autosomal dominant connective tissue genetic disorder caused by pathogenic variants in FBN2. CCA is characterized by arachnodactyly, camptodactyly, contracture of major joints, scoliosis, pectus deformities, and crumpled ears, but rarely with lethal cardiovascular manifestations as in ...
Shulin Yang, Zongzhe Li
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Association of positional and functional candidate genes FGF1, FBN2, and LOX on 5q31 with intracranial aneurysm [PDF]
Journal of Human Genetics, 2003 We previously performed a genome-wide linkage study of intracranial aneurysm (IA) and found positive evidence of linkage at chromosomes 5q22-31, 7q11, and 14q22. In the present study, we focus on 5q31, where three candidate genes, fibroblast growth factor 1 (FGF1), fibrillin 2 (FBN2), and lysyl oxidase gene ( LOX) lie, and evaluate associations with IA.
Hiroyuki Akagawa +2 more
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