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Evolutionary history of exon shuffling
Exon shuffling has been characterized as one of the major evolutionary forces shaping both the genome and the proteome of eukaryotes. This mechanism was particularly important in the creation of multidomain proteins during ...
The role of exon shuffling in shaping protein-protein interaction networks
(BIOMED CENTRAL LTD, 2010)
Background: Physical protein-protein interaction (PPI) is a critical phenomenon for the function of most proteins in living organisms and a significant fraction of PPIs are the result of domain-domain interactions. Exon ...
Clinical and molecular study of a new form of hereditary myotonia in Murrah water buffalo
Hereditary myotonia caused by mutations in CLCN1 has been previously described in humans, goats, dogs, mice and horses. The goal of this study was to characterize the clinical, morphological and genetic features of hereditary ...
Alternative splicing and genetic diversity: silencers are more frequently modified by SNVs associated with alternative exon/intron borders
(OXFORD UNIV PRESS, 2011)
With the availability of a large amount of genomic data it is expected that the influence of single nucleotide variations (SNVs) in many biological phenomena will be elucidated. Here, we approached the problem of how SNVs ...
Exclusion of known gene for enamel development in two Brazilian families with amelogenesis imperfecta
Amelogenesis imperfecta (AI) is a genetically heterogeneous group of diseases that result in defective development of tooth enamel. Mutations in several enamel proteins and proteinases have been associated with AI. The ...
Heterozygous exon 3 deletion in the Parkin gene in a patient with clinical and radiological MSA-C phenotype
(ELSEVIER SCIENCE BV, 2011)
Skipping of exon 30 in C5 gene results in complete human C5 deficiency and demonstrates the importance of C5d and CUB domains for stability
(PERGAMON-ELSEVIER SCIENCE LTD, 2009)
The deficiency of complement C5 is rare and frequently associated with severe and recurrent infections, especially caused by Neisseria spp. We observed the absence of component C5 in the serum of 3 siblings from a Brazilian ...
Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with Cerebrotendinous Xanthomatosis
(Sociedade Brasileira de Genética, 2015)
Cerebrotendinous Xanthomatosis (CTX), a rare lipid storage disorder, is caused by recessive loss-of-function mutations of the 27-sterol hydroxylase (CYP27A1), producing an alteration of the synthesis of bile acids, with ...