Molecular Imprinting
Mostrando 13-24 de 36 artigos, teses e dissertações.
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13. Outro caso de fenótipo da síndrome de Prader-Willi em um paciente com defeito molecular da síndrome de Angelman
A síndrome de Angelman (SA) e a síndrome de Prader-Willi (SPW) são doenças neurogenéticas distintas; entretanto, já foi observada sobreposição clínica entre essas duas patologias. Descrevemos mais um caso de um paciente apresentando o fenótipo da SPW e exames moleculares compatíveis com a SA. Apesar do fenótipo da SPW, o teste da metilação do D
Arquivos de Neuro-Psiquiatria. Publicado em: 2002-12
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14. Manifestações Endócrinas das Mutações da Proteína Gsalfae do Imprinting do Gene GNAS1
Esta revisão resume o papel da patogênese molecular das mutações do gene da proteína Gsalfa em doenças endócrinas. As proteínas G transmitem o sinal celular de receptores de membrana 7TM. Este sistema pode ser ativado por fotons de luz, odorantes e hormônios (LH, FSH, TSH, PTH, etc). Seu efetor é a adenilato-ciclase que induz a formação de AMPc.
Arquivos Brasileiros de Endocrinologia & Metabologia. Publicado em: 2002-08
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15. Porphyrinosilica and metalloporphyrinosilica: hybrid organic-inorganic materials prepared by sol-gel processing
New materials porphyrinosilica and metalloporphyrinosilica template have been obtained by a sol-gel processing where functionalyzed porphyrins and metalloporphyrins "building blocks" were assembled into a three-dimensional silicate network. The optimized conditions for preparation of these materials are revised. The monomer precursors porphyrinopropylsilyl a
Anais da Academia Brasileira de Ciências. Publicado em: 2000-03
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16. Can Molecular Imprinting Explain Heterozygote Deficiency and Hybrid Vigor?
Molecular imprinting, the phenomenon of differential expressions of a gene based on whether it is paternally or maternally derived, has been noted in mice, humans, and other nonmammalian organisms. Effects of differential imprinting are important not only in the study of the manifestation of deleterious genes; they have important evolutionary implications as
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17. Production of abiotic receptors by molecular imprinting of proteins.
When a protein is dissolved in a concentrated aqueous solution of a multifunctional organic compound, freeze-dried, and washed with an anhydrous organic solvent to remove the ligand, the resultant "imprinted" protein preparation binds up to 30-fold more of the template compound in anhydrous solvents than the nonimprinted protein in the same solvent (and both
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18. Mimics of the binding sites of opioid receptors obtained by molecular imprinting of enkephalin and morphine.
Molecular imprinting of morphine and the endogenous neuropeptide [Leu5]enkephalin (Leu-enkephalin) in methacrylic acid-ethylene glycol dimethacrylate copolymers is described. Such molecular imprints possess the capacity to mimic the binding activity of opioid receptors. The recognition properties of the resultant imprints were analyzed by radioactive ligand
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19. Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome.
Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome associated with a characteristic pattern of visceromegaly and predisposition to childhood tumours. BWS is a genetically heterogeneous disorder; most cases are sporadic but approximately 15% are familial and a small number of BWS patients have cytogenetic abnormalities involving chromosome
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20. Beckwith-Wiedemann syndrome in a child with chromosome 18q deletion.
Molecular genetic investigation of a female infant with Beckwith-Wiedemann syndrome (BWS) showed loss of IGF2 imprinting but no evidence of uniparental disomy. In addition, a deletion of chromosome 18q22.1 was identified in this infant without clinical features of 18q-syndrome (microcephaly, short stature, hypotonia). The association of a chromosome 18 delet
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21. Intracytoplasmic Sperm Injection May Increase the Risk of Imprinting Defects
In germ cells and the early embryo, the mammalian genome undergoes widespread epigenetic reprogramming. Animal studies suggest that this process is vulnerable to external factors. We report two children who were conceived by intracytoplasmic sperm injection (ICSI) and who developed Angelman syndrome. Molecular studies, including DNA methylation and microsate
The American Society of Human Genetics.
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22. Genomic imprinting and assisted reproduction
Imprinted genes exhibit a parent-of-origin specific pattern of expression. Such genes have been shown to be targets of molecular defects in particular genetic syndromes such as Beckwith-Wiedemann and Angelman syndromes. Recent reports have raised concern about the possibility that assisted reproduction techniques, such as in vitro fertilization or intracytop
BioMed Central.
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23. Interrelationships of Heterozygosity, Growth Rate and Heterozygote Deficiencies in the Coot Clam, Mulinia Lateralis
Allozyme surveys of marine invertebrates commonly report heterozygote deficiencies, a correlation between multiple locus heterozygosity and size, or both. Hypotheses advanced to account for these phenomena include inbreeding, null alleles, selection, spatial or temporal Wahlund effects, aneuploidy and molecular imprinting. Previous studies have been unable t
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24. Genetic aspects of birth defects: new understandings of old problems
Over the past two decades, combined advances in genetics, developmental biology and biochemistry have transformed the study of human birth defects. This review describes the importance of genome architecture, parent of origin effects (imprinting), molecular pathophysiology, developmental pathways, mosaicism and cancer predisposition syndromes in the understa
BMJ Group.