Navegando por Palavras-chave "array"

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    Cytogenomic Delineation and Clinical Follow-up of Two Siblings with an 8.5 Mb 6q24.2-q25.2 Deletion Inherited From a Paternal Insertion
    (Wiley-Blackwell, 2014-09-01) Meloni, Vera Ayres [UNIFESP]; Guilherme, Roberta Santos [UNIFESP]; Oliveira, Mariana Moyses [UNIFESP]; Migliavacca, Michele [UNIFESP]; Takeno, Sylvia Satomi [UNIFESP]; Macena Sobreira, Nara Lygia; Faria Soares, Maria de Fatima [UNIFESP]; Mello, Claudia Berlim de [UNIFESP]; Melaragno, Maria Isabel [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Johns Hopkins Univ
    The chromosomal segment 6q24-q25 comprises a contiguous gene microdeletion syndrome characterized by intrauterine growth retardation, growth delay, intellectual disability, cardiac anomalies, and a dysmorphic facial phenotype. We describe here a 10-year follow-up with detailed clinical, neuropsychological, and cytomolecular data of two siblings, male and female, who presented with developmental delay, microcephaly, short stature, characteristic facial dysmorphisms, multiple organ anomalies, and intellectual disability. Microarray analysis showed an 8.5Mb 6q24.2-q25.2 interstitial deletion. Fluorescence in situ hybridization analyses confirmed the deletions and identified an insertion of 6q into 8q13 in their father, resulting in a high recurrence risk. This is the first report in sibs with distinct neuropsychological involvement, one of them with stenosis of the descending branch of the aorta. (C) 2014 Wiley Periodicals, Inc.
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    Estrogen regulation of uterine genes in vivo detected by complementary DNA array
    (Georg Thieme Verlag Kg, 2002-05-01) Andrade, P. M.; Silva, IDCG; Borra, R. C.; Lima, G. R. de; Baracat, E. C.; Universidade Federal de São Paulo (UNIFESP)
    Introduction: in the present study, our aim was to identify differentially expressed genes involved in estrogen actions at the endometrium level in rats. Methods: Thirty adult rats were ovariectomized four days prior to drug administration for 48 days. Rats were divided in 2 groups: I, control and II, conjugated equine estrogens (CCE). Total RNA was isolated from uterus, and differential expression was analyzed by array technology and RTPCR. Results: A total of 32 candidate genes were shown to be upregulated or downregulated in groups I or II. Among them, differential expression was already confirmed by RT-PCR for IGFBP5, S12, c-kit, and VEGF, genes whose expression was up regulated during CCE therapy, and casein kinase II and serine kinase expression was the same level in both groups. Conclusion: We have demonstrated that cDNA array represents a powerful approach to identify key molecules in the estrogens therapy. A number of the candidates reported here should provide new markers that may contribute to the detection of target estrogen receptor. This information may also aid the development of new approaches to therapeutic intervention.