Results 151 to 160 of about 2,855 (182)
Exome sequencing uncovers promising candidate genes for foetal structural malformations. [PDF]
Indian J Med ResSudhakar DV +6 more
europepmc +1 more source
Marfan syndrome variation of the POGLUT2 and POGLUT3 consensus sequence can produce aberrant fibrillin-1 O-glucosylation. [PDF]
J Biol ChemKegley NR +4 more
europepmc +1 more source
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 ...
Zongzhe Li, Shulin Yang
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 region as a candidate for the PRS component of the phenotype.
Jeanne Amiel +2 more
exaly +8 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. The present study aimed to identify the genetic cause of a three-generation Chinese family with CCA.
Guoling You, 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.
Susan A Berry +2 more
exaly +1 more source
Some of the next articles are maybe not open access.
Related searches:
Related searches:
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 +2 more
exaly +3 more sources
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
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 ...
Jack Cheng +2 more
exaly +3 more sources