Results 151 to 160 of about 2,722 (177)
Connective Tissue ResearchCongenital contractural arachnodactyly (CCA) is an extremely rare autosomal dominant connective tissue genetic disorder caused by pathogenic variants in FBN2.
Shulin Yang, Zongzhe Li
exaly +4 more sources
A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX [PDF]
European Journal of Medical Genetics, 2014 Pierre Robin sequence (PRS) is an aetiologically distinct subgroup of cleft palate. We aimed to define the critical genomic interval from five different 5q22-5q31 deletions associated with PRS or PRS-associated features and assess each gene within the ...
Jacqueline K Rainger +2 more
exaly +6 more sources
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.
Guoling You, Yunlan Xu, Qihua Fu
exaly +4 more sources
Human Mutation, 2002 Congenital contractural arachnodactyly (CCA) is an autosomal dominant condition that shares skeletal features with Marfan syndrome (MFS), but does not have the ocular and cardiovascular complications that characterize MFS.
Anne Child +2 more
exaly +1 more source
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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
openaire +2 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 ...
Miki Ohira, T Iida, Takahiro Nakajima
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Biochemical Genetics, 2023 AbstractCongenital contractural arachnodactyly (CCA) is a rare connective tissue disorder characterized by arachnodactyly, multiple joint contractures, progressive kyphoscoliosis, pectus deformity and abnormal crumpled ears. FBN2 is the only gene currently known to be associated with CCA.
Chunyu Luo, Zhengfeng Xu, Cheng Qing
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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 ...
Gabe Haller +2 more
exaly +3 more sources
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.
Taku Yoneyama +2 more
exaly +3 more sources
Double heterozygous variants in FBN1 and FBN2 in a Thai woman with Marfan and Beals syndromes
European Journal of Medical Genetics, 2020A phenotype of an individual is resulted from an interaction among variants in several genes. Advanced molecular technologies allow us to identify more patients with mutations in more than one genes. Here, we studied a Thai woman with combined clinical features of Marfan (MFS) and Beals (BS) syndromes including frontal bossing, enophthalmos, myopia ...
Chureerat, Phokaew +3 more
openaire +2 more sources