Chromosomal Rearrangement
Association of a Chromosomal Rearrangement Event with Mouse Posterior Polymorphous Corneal Dystrophy and Alterations in Csrp2bp, Dzank1, and Ovol2 Gene Expression.
... gene rearrangement is expected to alter the functional properties of both the CSRP2BP and DZANK1 proteins, while human PPCD1 OVOL2 mutations are associated with overexpression rather than a protein structural ...
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Spt2p defines a new transcription-dependent gross chromosomal rearrangement pathway.
... Large numbers of gross chromosomal rearrangements (GCRs) are frequently observed in many cancers. High mobility group 1 (HMG1) protein is a non-histone DNA-binding protein and is highly expressed in different ...
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DNA repair pathway selection caused by defects in TEL1, SAE2, and de novo telomere addition generates specific chromosomal rearrangement signatures.
... the 3 9 single stranded end (Figure S5 and S9A). Subsequently, one of three mechanisms operate (Figure S9B): 1) intramolecular BIR occurs up to the position of ura3-52 followed by HR-mediated template switching to the ...
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Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene
... chromosome rearrangement among chromosomes 6, 12 and ...a chromosomal rearran- gement, both complex and reciprocal translocations, show an imbalance on the chromosomal or molecular level as an ...
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Balancing stability and flexibility within the genome of the pathogen Cryptococcus neoformans.
... Over the last 30 years, the growing immunocompromised population has created fertile ground for opportunistic pathogens, particularly those from the Kingdom Fungi. While the range of fungal species causing infections is ...
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Autosomal rearrangement in Gryllus assimilis Fabricius, 1775 (Orthoptera, Gryllidae)
... the rearrangement. The heterozygous karyotype was the result of a chromosomal rearrangement between chromosome pairs 6 and 10, both of which were initially ...
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ESRRA-C11orf20 is a recurrent gene fusion in serous ovarian carcinoma.
... clonal chromosomal rearrangement positioning ESRRA upstream of C11orf20 in one tumor, and evidence of local copy number variation in the ESRRA locus in the second ...
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Characterization of a chromosome rearrangement associated with cardiopathy and autism
... the chromosomal breakpoints with nucleotide resolution Refinement of the exact location of the breakpoints, within the region delimited by aCGH analysis and posteriorly redefined by liWGS, was carried out by PCR ...
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Mapping Breakpoints of Complex Chromosome Rearrangements Involving a Partial Trisomy 15q23.1-q26.2 Revealed by Next Generation Sequencing and Conventional Techniques.
... complex chromosomal rearrangement (CCRs) involving chromo- somes 3 and 8 in the proband (Fig 1A) and CCRs involving 5 chromosomes (3, 5, 8, 11 and 15) in the mother (Fig 1B), including two types of CCRs ...
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Clinics vol.67 número6
... complex chromosomal rearrangement (CCR) involving chromosomes 2, 6, and 18 includes eight breakpoints and five insertional translocations (ITs) through three ...
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Chromosomal Polymorphism in the Sporothrix schenckii Complex
... to chromosomal bands of Brazilian isolates of ...Mb chromosomal band from isolate Ss126 was used as a ...major chromosomal bands (Mb) are indicated on the ...
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J. Braz. Chem. Soc. vol.22 número5
... The C-24 conigurations of (22E)-24-ethyl-24-methylcholesta-5,22-dien-3β-ol (1) and 24-ethyl- 24-methylcholest-5-en-3β-ol (2), isolated from the Colombian Caribbean sponge Topsentia ophiraphidites, were determined to be R ...
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Fetal calcifications are associated with chromosomal abnormalities.
... of chromosomal abnormalities was detected among cases after induced termination, where both cases and controls had a higher proportion than the average (63% and 34%, ...no chromosomal abnormalities at all ...
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Beyond the chromosome: the prevalence of unique extra-chromosomal bacteriophages with integrated virulence genes in pathogenic Staphylococcus aureus.
... Next generation sequencing has become a powerful tool to help decipher S. aureus genomes and extra-chromosomal elements [43], and can now screen entire bacterial chromosomes in a single sequencing reaction [44]. ...
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M A T E R I A L E MÉTODOS
... 1973 — Chromosomal polymorphism in the saltans group of Drosophila.. The saltans sub- group.[r] ...
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Genome-wide signatures of 'rearrangement hotspots' within segmental duplications in humans.
... most highly variable genes previously identified in the human genome within three populations [19] (Fig. 2b). We have identified 91,971 duplicons (i.e., average of 4.5 duplicons per SD unit) with overlapping breakpoints ...
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Chromosomal polymorphism in Drosophila willistoni populations
... Studies of the genetic characteristics of marginal pop- ulations make impossible to test the idea that gene flow is a cohesive force that holds a species together and allows it to evolve as a unit. Such populations may ...
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Chromosomal inversion polymorphism in Drosophila mediopunctata
... Chromosomal inversion polymorphism in species of Drosophila is one of the best studied systems in population genetics. Inversions have been used to study phylogenies, geographical clines, temporal cycles, meiotic ...
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Chromosomal organization and segregation in Pseudomonas aeruginosa.
... localization. Chromosomal genes encoding DnaX (PA1532), HolB (PA2961) and HolA (PA3989) were replaced with genes encoding GFP tagged versions of these proteins (see Text S1 for ...
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Evidence for X-chromosomal schizophrenia associated with microRNA alterations.
... X- chromosomal association and behavioral studies of mouse knock- ins are important to verify both the association and the attributable risk for X-chromosomal miRNA mutations; ii) there are major ...
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