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Analysis of mutations in the cystic fibrosis transmembrane regulator (CFTR) gene in patients with obstructive azoospermia Genet. Mol. Biol.
Bernardino,Andrea L.F.; Lima,Cintia E.; Zatz,Mayana.
Congenital bilateral absence of the vas deferens (CBAVD) accounts for 1%-2% of sterility in men. A high incidence of mutations, as well as the involvement of the 5T variant of the T tract length in intron 8 of the cystic fibrosis conductance regulator (CFTR) gene, have been previously described in males with CBAVD. Herein we report the screening for mutations and for the 5T variant of the CFTR gene in 17 patients with CBAVD and three others with non-CABVD obstructive azoospermia. In the CBAVD group, three patients (15%) were compound heterozygotes for mutations, and five patients (25%) had a mutation in one allele and the 5T variant in the other; the 5T variant was also present in two other patients, one of them being homozygous. The most frequent mutation...
Tipo: Info:eu-repo/semantics/article Palavras-chave: CFTR mutations; Obstructive azoospermia; Male infertility.
Ano: 2003 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572003000100001
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Development of a comprehensive noninvasive prenatal test Genet. Mol. Biol.
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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Neuromuscular disorders: genes, genetic counseling and therapeutic trials Genet. Mol. Biol.
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
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Ultra-sonografia abdominal e pélvica em cães da raça golden retriever sadios, portadores e afetados pela distrofia muscular progressiva Ciência Rural
Grando,Angélica Paula; Mariana,Arani Nanci Bonfim; Miglino,Maria Angélica; Sterman,Franklin Almeida; Zatz,Mayana; Kanayama,Luciane Maria; Feitosa,Matheus Levi Tjara; Martins,Daniele dos Santos; Morini,Adriana Caroprezo; Santos,Juliana Passos Alves dos; Fadel,Leandro; Alves,Flávio Ribeiro; Ambrósio,Carlos Eduardo.
A distrofia muscular de Duchenne (DMD) é um tipo de distrofia muscular em humanos caracterizada por uma doença genética ligada ao cromossomo X. O cão golden retriever portador da distrofia muscular (GRMD) tem sido intensamente estudado e considerado o modelo mais representativo para a doença observada em humanos. Assim, como forma de verificar anormalidades em órgãos internos nesses animais, foi realizado o exame ultra-sonográfico de 24 cães golden retriever saudáveis, portadores e afetados pela distrofia muscular. O exame ultra-sonográfico do GRMD diagnosticou aumento hepático de moderado a severo, incluindo os vasos hepáticos e seus ramos e aumento de ecogenicidade da vesícula biliar e vesícula urinária. Entretanto, não foram observadas imagens claras de...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Miopatia; Duchenne; Doença genética; Distrofia canina.
Ano: 2009 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-84782009000100019
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