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Overview of chromosome-wide to gene-by-gene dosage alterations.
, 2021 Artistic representation of the beneficial and the disadvantageous aspects of gene dosage alterations. Examples of naturally occurring and disease-causing phenomena are shown in the illustration. Such gene dosage alterations can occur from any level, from
Claudia Isabelle Keller Valsecchi (11819756) +1 more
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Clinical Chemistry, 1998 Numerous investigations (both clinical and basic) in today’s molecular biology laboratory require accurate quantification of DNA by the polymerase chain reaction (PCR). To name a few important examples, quantitative PCR has been used to quantify viral copy number, to perform gene expression studies, and to diagnose genetic diseases.
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Paralog dependency indirectly affects the robustness of human cells
Molecular Systems Biology, 2019 The protective redundancy of paralogous genes partly relies on the fact that they carry their functions independently. However, a significant fraction of paralogous proteins may form functionally dependent pairs, for instance, through heteromerization ...
Rohan Dandage, Christian R Landry
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Dosage Compensation of Sex Chromosome Genes in Eukaryotes [PDF]
Acta Naturae, 2010 Sex chromosome evolution is accompanied by significant divergence in morphology and gene content and results in most genes of one of the sex chromosomes being present in two dosages in one sex and in one dosage in the other. To eliminate the difference in the expression levels of these genes between sexes and to restore equal expression levels of the ...
Dementyeva, E., Zakian, S.
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Conditional and constitutive expression of a Tbx1-GFP fusion protein in mice. [PDF]
, 2013 BACKGROUND: Velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) is caused by a 1.5-3 Mb microdeletion of chromosome 22q11.2, frequently referred to as 22q11.2 deletion syndrome (22q11DS).
Morrow BE +8 more
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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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Independent stratum formation on the avian sex chromosomes reveals inter-chromosomal gene conversion and predominance of purifying selection on the w chromosome [PDF]
, 2014 We used a comparative approach spanning three species and 90 million years to study the evolutionary history of the avian sex chromosomes. Using whole transcriptomes, we assembled the largest cross-species dataset of W-linked coding content to date.
Wright, Alison E +9 more
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Rambam Maimonides Medical Journal, 2011 Genetic determinants of sex in placental mammals developed by the evolution of primordial autosomes into the male and female sex chromosomes. The Y chromosome determines maleness by the action of the gene SRY, which encodes a protein that initiates a ...
Sophia Balderman, Marshall A. Lichtman
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X chromosome inactivation during Drosophila spermatogenesis [PDF]
, 2007 Genes with male- and testis-enriched expression are under-represented on the Drosophila melanogaster X chromosome. There is also an excess of retrotransposed genes, many of which are expressed in testis, that have “escaped” the X chromosome and moved to ...
Baines, J. +11 more
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Aneuploidy and Gene Expression: Is there Dosage Compensation?
Epigenomics, 2019 Aneuploidy (i.e., abnormal chromosome number) is the leading cause of miscarriage and congenital defects in humans. Moreover, aneuploidy is ubiquitous in cancer. The deleterious phenotypes associated with aneuploidy are likely a result of the imbalance in the levels of gene products derived from the additional chromosome(s).
Shihoko, Kojima, Daniela, Cimini
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