Results 31 to 40 of about 408,305 (347)
Karyotype, ploidy, and gene dosage [PDF]
WormBook, 2005 The normal karyotype of Caenorhabditis elegans, with its five pairs of autosomes and single pair of X chromosomes, is described. General features of chromosomes and global differences between different chromosomal regions are discussed. Abnormal karyotypes, including duplications, deficiencies, inversions, translocations and chromosome fusions are ...
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A general lack of compensation for gene dosage in yeast
Molecular Systems Biology, 2010 Gene copy number variation has been discovered in humans, between related species, and in different cancer tissues, but it is unclear how much of this genomic‐level variation leads to changes in the level of protein abundance.
Michael Springer +2 more
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Positive selection underlies Faster-Z evolution of gene expression in birds. [PDF]
, 2015 The elevated rate of evolution for genes on sex chromosomes compared to autosomes (Fast-X or Fast-Z evolution) can result either from positive selection in the heterogametic sex, or from non-adaptive consequences of reduced relative effective population ...
Dean, R +4 more
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Heteroduplex Formation in SMN Gene Dosage Analysis [PDF]
The Journal of Molecular Diagnostics, 2001 Most spinal muscular atrophy patients lack both copies of SMN1 exon 7 and most carriers have only one copy of SMN1 exon 7. We investigated the effect of SMN1/SMN2 heteroduplex formation on SMN gene dosage analysis, which is an assay to determine copy number of SMN1 exon 7 that utilizes multiplex quantitative polymerase chain reaction (PCR) with DraI ...
S, Ogino +4 more
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FOXG1 Dose in Brain Development
Frontiers in Pediatrics, 2019 Brain development is a highly regulated process that involves the precise spatio-temporal activation of cell signaling cues. Transcription factors play an integral role in this process by relaying information from external signaling cues to the genome ...
Nuwan C. Hettige +5 more
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Polycystic kidney disease – where gene dosage counts [PDF]
F1000Prime Reports, 2014 Gene dosage effects have emerged as playing a central role in the pathogenesis of polycystic kidney disease. Yet, how gene dosage can ultimately have an impact on the formation of kidney cysts remains unknown. In this commentary we review the evidence for the role of gene dosage effects versus the "2-hit" mutation model in polycystic kidney disease ...
Eccles, Michael R., Stayner, Cherie A.
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Genetic Analysis of RAB39B in an Early-Onset Parkinson's Disease Cohort
Frontiers in Neurology, 2020 Pathogenic variants in the gene encoding RAB39B, resulting in the loss of protein function, lead to the development of X-linked early-onset parkinsonism.
Yujing Gao +10 more
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Ectopic application of the repressive histone modification H3K9me2 establishes post-zygotic reproductive isolation in Arabidopsis thaliana [PDF]
, 2017 Hybrid seed lethality as a consequence of interspecies or interploidy hybridizations is a major mechanism of reproductive isolation in plants. This mechanism is manifested in the endosperm, a dosage-sensitive tissue supporting embryo growth.
De Jaeger, Geert +6 more
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Indonesian Journal of Chemistry, 2019 This study assessed the combinations of genetic manipulation; signal peptide modification, gene dosage increment and co-expression of folding component, to increase Saccharomycopsis fibuligera R64 α-amylase (Sfamy) secretion in Pichia pastoris.
Shabarni Gaffar +4 more
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Gene dosage effects of poly(A) track-engineered hypomorphs
Molecular Therapy: Nucleic Acids, 2021 Manipulation of gene activity through creation of hypomorphic mutants has been a long-standing tool in examining gene function. Our previous studies have indicated that hypomorphic mutants could be created by inserting cis-regulatory sequences composed ...
Geralle Powell +2 more
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