Genomic Imprinting
Mostrando 37-48 de 124 artigos, teses e dissertações.
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37. Genomic imprinting as a cause of disease: Is increasingly recognised, especially after assisted reproduction
BMJ Publishing Group Ltd..
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38. Imprinting in Albright's hereditary osteodystrophy.
Review of published reports of Albright's hereditary osteodystrophy (AHO) involving two or more generations shows a marked excess of maternal transmission. Full expression of the gene (AHO + hormone resistance, pseudohypoparathyroidism) occurs in maternally transmitted cases and partial expression (AHO alone) when the gene is inherited from the father, sugge
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39. Paternal and maternal transmission of pseudohypoparathyroidism type Ia in a family with Albright hereditary osteodystrophy: no evidence of genomic imprinting.
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40. The Dlk1 and Gtl2 genes are linked and reciprocally imprinted
Genes subject to genomic imprinting exist in large chromosomal domains, probably reflecting coordinate regulation of the genes within a cluster. Such regulation has been demonstrated for the H19, Igf2, and Ins2 genes that share a bifunctional imprinting control region. We have identified the Dlk1 gene as a new imprinted gene that is paternally expressed. Fur
Cold Spring Harbor Laboratory Press.
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41. Genomic imprinting recapitulated in the human β-globin locus
A subset of genes in mammals are subject to genomic imprinting. The mouse H19 gene, for example, is active only when maternally inherited and the neighboring Igf2 gene is paternally expressed. This imprinted expression pattern is regulated by the imprinting control region (ICR) upstream of the H19 gene. A maternally inherited H19 ICR inhibits Igf2 gene activ
National Academy of Sciences.
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42. Testing for Genetic Linkage in Families by a Variance-Components Approach in the Presence of Genomic Imprinting
Some genes that affect development and behavior in mammals are known to be imprinted; and ⩾1% of all mammalian genes are imprinted. Hence, incorporating an imprinting parameter into linkage analysis may increase the power to detect linkage for these traits. Here we propose theoretical justifications for a recently developed model for testing of linkage, in
The American Society of Human Genetics.
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43. Gain of imprinting at chromosome 11p15: A pathogenetic mechanism identified in human hepatocarcinomas
Genomic imprinting is a reversible condition that causes parental-specific silencing of maternally or paternally inherited genes. Analysis of DNA and RNA from 52 human hepatocarcinoma samples revealed abnormal imprinting of genes located at chromosome 11p15 in 51% of 37 informative samples. The most frequently detected abnormality was gain of imprinting, whi
The National Academy of Sciences.
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44. Imprinting of the Gsα gene GNAS1 in the pathogenesis of acromegaly
Approximately 40% of growth hormone–secreting pituitary adenomas have somatic mutations in the GNAS1 gene (the so-called gsp oncogene). These mutations at codon 201 or codon 227 constitutively activate the α subunit of the adenylate cyclase–stimulating G protein Gs. GNAS1 is subject to a complex pattern of genomic imprinting, its various promoters direc
American Society for Clinical Investigation.
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45. Enhancer competition between H19 and Igf2 does not mediate their imprinting
The linked H19 and Igf2 genes on mouse distal chromosome 7 are subject to genomic imprinting. Competition between the promoters of the genes for transcription from shared enhancers has been proposed as an explanation for the coordinate expression and reciprocal imprinting of these two genes. To test this model, we have used Cre-loxP technology to generate in
The National Academy of Sciences.
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46. A study of DNA methylation in myotonic dystrophy.
We have examined the hypothesis that the severe congenital form of myotonic dystrophy is caused by genomic imprinting at the level of differential DNA methylation of maternal and paternal alleles. Probes encompassing the 5', central, and 3' regions of the myotonic dystrophy protein kinase gene were used on blots of blood DNA from congenital and adult onset p
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47. Comparative Genomic Sequencing Identifies Novel Tissue-Specific Enhancers and Sequence Elements for Methylation-Sensitive Factors Implicated in Igf2/H19 Imprinting
A differentially methylated region (DMR) and endoderm-specific enhancers, located upstream and downstream of the mouse H19 gene, respectively, are known to be essential for the reciprocal imprinting of Igf2 and H19. To explain the same imprinting patterns in non-endodermal tissues, additional enhancers have been hypothesized. We determined and compared the s
Cold Spring Harbor Laboratory Press.
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48. Parental origin effects in human trisomy for chromosome 14q: implications for genomic imprinting.
Parental origin specific congenital anomalies have been noted in patients with uniparental disomy of the long arm of human chromosome 14 (UPD14). This suggests the presence of imprinted genes, consistent with observations of imprinting in the region of syntenic homology in the mouse. It is not known whether the distinct defects reported for paternal and mate