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| Santos,Silvana; Kok,Fernando; Weller,Mathias; Paiva,Francisco Rennan Lopes de; Otto,Paulo A.. |
| A new autosomal recessive genetic condition, the SPOAN syndrome (an acronym for spastic paraplegia, optic atrophy and neuropathy syndrome), was recently discovered in an isolated region of the State of Rio Grande do Norte in Northeast Brazil, in a population that was identified by the IBGE (Brazilian Institute of Geography and Statistics) as belonging to the Brazilian communities with the highest rates of "deficiencies" (Neri, 2003), a term used to describe diseases, malformations, and handicaps in general. This prompted us to conduct a study of consanguinity levels in five of its municipal districts by directly interviewing their inhabitants. Information on 7,639 couples (corresponding to about 40% of the whole population of the studied districts) was... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Inbreeding levels; Genetic drift; Geographic isolation. |
| Ano: 2010 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000200003 |
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| Passos-Bueno,Maria Rita; Suzuki,Oscar T.; Armelin-Correa,Lucia M.; Sertié,Andréa L.; Errera,Flavia I.V.; Bagatini,Kelly; Kok,Fernando; Leite,Katia R.M.. |
| Collagen XVIII, a proteoglycan, is a component of basement membranes (BMs). There are three distinct isoforms that differ only by their N-terminal, but with a specific pattern of tissue and developmental expression. Cleavage of its C-terminal produces endostatin, an inhibitor of angiogenesis. In its N-terminal, there is a frizzled motif which seems to be involved in Wnt signaling. Mutations in this gene cause Knobloch syndrome KS), an autosomal recessive disorder characterized by vitreoretinal and macular degeneration and occipital encephalocele. This review discusses the effect of both rare and polymorphic alleles in the human phenotype, showing that deficiency of one of the collagen XVIII isoforms is sufficient to cause KS and that null alleles causing... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: COL18A1; Collagen XVIII; Knobloch syndrome; Eye development; Neuronal cell migration; Craniosynostosis; Polymorphisms; D1437N. |
| Ano: 2006 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652006000100012 |
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