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| Errera,Flavia I.V.; Canani,Luís H.; Yeh,Erika; Kague,Érika; Armelin-Corrêa,Lucia M.; Suzuki,Oscar T.; Tschiedel,Balduíno; Silva,Maria Elizabeth R.; Sertié,Andréa L.; Passos-Bueno,Maria Rita. |
| Collagen XVIII can generate two fragments, NC11-728 containing a frizzled motif which possibly acts in Wnt signaling and Endostatin, which is cleaved from the NC1 and is a potent inhibitor of angiogenesis. Collagen XVIII and Wnt signaling have recently been associated with adipogenic differentiation and obesity in some animal models, but not in humans. In the present report, we have shown that COL18A1 expression increases during human adipogenic differentiation. We also tested if polymorphisms in the Frizzled (c.1136C>T; Thr379Met) and Endostatin (c.4349G>A; Asp1437Asn) regions contribute towards susceptibility to obesity in patients with type 2 diabetes (113 obese, BMI =30; 232 non-obese, BMI < 30) of European ancestry. No evidence of association... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: COL18A1; Obesity; Adipogenesis; Endostatin; Frizzled. |
| Ano: 2008 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652008000100012 |
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| Malcher,Carolina; Yamamoto,Guilherme L.; Burnham,Philip; Ezquina,Suzana A.M.; Lourenço,Naila C.V.; Balkassmi,Sahilla; Antonio,David S. Marco; Hsia,Gabriella S.P.; Gollop,Thomaz; Pavanello,Rita C.; Lopes,Marco Antonio; Bakker,Egbert; Zatz,Mayana; Bertola,Débora; Vlaminck,Iwijn De; Passos-Bueno,Maria Rita. |
| Abstract Our aim was to develop and apply a comprehensive noninvasive prenatal test (NIPT) by using high-coverage targeted next-generation sequencing to estimate fetal fraction, determine fetal sex, and detect trisomy and monogenic disease without parental genotype information. We analyzed 45 pregnancies, 40 mock samples, and eight mother-child pairs to generate 35 simulated datasets. Fetal fraction (FF) was estimated based on analysis of the single nucleotide polymorphism (SNP) allele fraction distribution. A Z-score was calculated for trisomy of chromosome 21 (T21), and fetal sex detection. Monogenic disease detection was performed through variant analysis. Model validation was performed using the simulated datasets. The novel model to estimate FF was... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Cell-free DNA; Next-generation sequencing; Trisomy; Noninvasive prenatal test; Fetal fraction. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000400545 |
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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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