Results 41 to 50 of about 7,614,096 (384)

The evolution of gene duplicates in angiosperms and the impact of protein-protein interactions and the mechanism of duplication [PDF]

open access: yes, 2019
Gene duplicates, generated through either whole genome duplication (WGD) or small-scale duplication (SSD), are prominent in angiosperms and are believed to play an important role in adaptation and in generating evolutionary novelty.
Carretero-Paulet, Lorenzo   +2 more
core   +2 more sources

Genetic Analysis of RAB39B in an Early-Onset Parkinson's Disease Cohort

open access: yesFrontiers 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
doaj   +1 more source

Massive gene amplification on a recently formed Drosophila Y chromosome. [PDF]

open access: yes, 2019
Widespread loss of genes on the Y is considered a hallmark of sex chromosome differentiation. Here we show that the initial stages of Y evolution are driven by massive amplification of distinct classes of genes. The neo-Y chromosome of Drosophila miranda
Bachtrog, Doris   +2 more
core   +1 more source

Karyotype, ploidy, and gene dosage [PDF]

open access: yesWormBook, 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 ...
openaire   +2 more sources

A General Mechanism for Network-Dosage Compensation in Gene Circuits [PDF]

open access: yes, 2010
Coping with variations in network dosage is crucial for maintaining optimal function in gene networks. We explored how network structure facilitates network-level dosage compensation.
Acar, Murat   +4 more
core   +2 more sources

Klinefelter syndrome comorbidities linked to increased X chromosome gene dosage and altered protein interactome activity

open access: yesHuman Molecular Genetics, 2017
Klinefelter syndrome (KS) (47,XXY) is the most common male sex chromosome aneuploidy. Diagnosis and clinical supervision remain a challenge due to varying phenotypic presentation and insufficient characterization of the syndrome.
Kirstine G Belling   +8 more
semanticscholar   +1 more source

Heteroduplex Formation in SMN Gene Dosage Analysis [PDF]

open access: yesThe 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
openaire   +2 more sources

Paralog dependency indirectly affects the robustness of human cells

open access: yesMolecular 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
doaj   +1 more source

Some Observations on Insecticide Resistance [PDF]

open access: yes, 2017
A model for development of resistance to an insecticide in an insect population is presented. The rate of development of resistance increased with increases in the proportion of the breeding population exposed to the insecticide and with increases in the
Ruppel, Robert F
core   +3 more sources

Conserved microRNA targeting reveals preexisting gene dosage sensitivities that shaped amniote sex chromosome evolution

open access: yesbioRxiv, 2017
Mammalian X and Y chromosomes evolved from an ordinary autosomal pair. Genetic decay of the Y led to X chromosome inactivation (XCI) in females, but some Y-linked genes were retained during the course of sex chromosome evolution, and many X-linked genes ...
S. Naqvi   +3 more
semanticscholar   +1 more source

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