Consulta: creatorFacets:"Passos-Bueno,Maria Rita"
Registros recuperados: 4
Data/hora: 11/06/2024 12:27:46

Neuromuscular disorders: genes, genetic counseling and therapeutic trials
Provedor de dados: 74
Autores: Zatz,Mayana; Passos-Bueno,Maria Rita; Vainzof,Mariz.
Abstract Neuromuscular disorders (NMD) are a heterogeneous group of genetic conditions, with autosomal dominant, recessive, or X-linked inheritance. They are characterized by progressive muscle degeneration and weakness. Here, we are presenting our major contributions to the field during the past 30 years. We have mapped and identified several novel genes responsible for NMD. Genotype-phenotype correlations studies enhanced our comprehension on the effect of gene mutations on related proteins and their impact on clinical findings. The search for modifier factors allowed the identification of a novel "protective"; variant which may have important implication on therapeutic developments. Molecular diagnosis was introduced in the 1980s and new technologies...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Genetic diseases; Genetic counseling; Neuromuscular disorders; Stem cells; Therapies.
Ano: 2016
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000300339

Development of a comprehensive noninvasive prenatal test
Provedor de dados: 74
Autores: 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

COL18A1 is highly expressed during human adipocyte differentiation and the SNP c.1136C &gt; T in its "frizzled" motif is associated with obesity in diabetes type 2 patients
Provedor de dados: 42
Autores: 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&gt;T; Thr379Met) and Endostatin (c.4349G&gt;A; Asp1437Asn) regions contribute towards susceptibility to obesity in patients with type 2 diabetes (113 obese, BMI =30; 232 non-obese, BMI &lt; 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

Mutations in collagen 18A1 (COL18A1) and their relevance to the human phenotype
Provedor de dados: 42
Autores: 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