Results 41 to 50 of about 9,839 (200)
mSphere, 2018 More than a century ago, Theodor Escherich isolated the bacterium that was to become Escherichia coli, one of the most studied organisms. Not long after, the strain began an odyssey and landed in many laboratories across the world.
M. Desroches +10 more
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BMC Plant Biology, 2009 Background Inter-specific hybridization occurs frequently in plants, which may induce genetic and epigenetic instabilities in the resultant hybrids, allopolyploids and introgressants.
Xu Chunming +8 more
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THAP1 mutations and dystonia phenotypes: Genotype phenotype correlations [PDF]
Movement Disorders, 2012 AbstractTHAP1 mutations have been shown to be the cause of DYT6. A number of different mutation types and locations in the THAP1 gene have been associated with a range of severity and dystonia phenotypes, but, as yet, it has been difficult to identify clear genotype phenotype patterns.
Xiromerisiou, G. +11 more
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Frontiers in Cellular and Infection Microbiology, 2014 Streptococcus pyogenes is a significant pathogen of humans, annually causing over 700,000,000 infections and 500,000 deaths. Virulence in S. pyogenes is closely linked to mobile genetic elements like phages and chromosomal islands (CI). S.
Scott Van Nguyen, William Michael Mcshan
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Identification of MLH2/hPMS1 dominant mutations that prevent DNA mismatch repair function
Communications Biology, 2020 Reyes et al. identified and characterized dominant mutations in the MutL homolog MLH2 (in S. cerevisiae) and PMS1 (in humans) causing an increased mutator phenotype.
Gloria X. Reyes +5 more
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Loss of DNA mismatch repair imparts a selective advantage in planarian adult stem cells. [PDF]
PLoS ONE, 2011 Lynch syndrome (LS) leads to an increased risk of early-onset colorectal and other types of cancer and is caused by germline mutations in DNA mismatch repair (MMR) genes.
Jessica P Hollenbach +4 more
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Rab38 Mutation and the Lung Phenotype [PDF]
International Journal of Molecular Sciences, 2018 Rab38 is highly expressed in alveolar type II cells, melanocytes, and platelets. These cells are specifically-differentiated cells and contain characteristic intracellular organelles called lysosome-related organelles, i.e., lamellar bodies in alveolar type II cells, melanosomes in melanocytes, and dense granules in platelets.
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PAX6 mutations: genotype-phenotype correlations [PDF]
BMC Genetics, 2005 Abstract Background The PAX6 protein is a highly conserved transcriptional regulator that is important for normal ocular and neural development. In humans, heterozygous mutations of the PAX6 gene cause aniridia (absence of the iris) and related developmental eye diseases.
Tzoulaki, I. +2 more
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mBio, 2017 The ability to adapt to a changing environment provides a selective advantage to microorganisms. In the case of many pathogens, a large change in their environment occurs when they move from a natural setting to a setting within a human host and then ...
Kylie J. Boyce +5 more
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Mutator phenotype in cancer: origin and consequences. [PDF]
Semin Cancer Biol, 2010 The concept that cancers express a mutator phenotype was formulated eons ago1. Its origin stems from observations that within each tumor there are many different chromosomal alterations in each malignant cell and the shape and structure of these cells are strikingly heterogeneous.
Loeb LA.
europepmc +4 more sources