Read more about the article Positioning Europe for the EPITRANSCRIPTOMICS challenge.
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Positioning Europe for the EPITRANSCRIPTOMICS challenge.

Abstract The genetic alphabet consists of the four letters: C, A, G, and T in DNA and C,A,G, and U in RNA. Triplets of these four letters jointly encode 20…

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Read more about the article Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.
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Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.

Abstract Biallelic mutations in gene, a caretaker of the genome, cause Rothmund-Thomson type-II syndrome (RTS-II) and confer increased cancer risk if they damage the helicase domain. We describe five families…

Continue ReadingRothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.
Read more about the article PathwayConnector: finding complementary pathways to enhance functional analysis.
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PathwayConnector: finding complementary pathways to enhance functional analysis.

Abstract PathwayConnector is a web-tool that facilitates the construction of complementary pathway-to-pathway networks and subnetworks of them, based on a reference pathway network derived from the rich information available either…

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Read more about the article Adherence to pneumococcal conjugate vaccination schedule and uptake rate as compared to the established diphtheria-tetanus-acellular pertussis vaccination in Cyprus.
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Adherence to pneumococcal conjugate vaccination schedule and uptake rate as compared to the established diphtheria-tetanus-acellular pertussis vaccination in Cyprus.

Abstract Pneumococcus is a common cause of invasive and non-invasive infections in children. In areas with high vaccination coverage, universal infant vaccination with conjugated pneumococcal vaccine (PCV) has significantly decreased…

Continue ReadingAdherence to pneumococcal conjugate vaccination schedule and uptake rate as compared to the established diphtheria-tetanus-acellular pertussis vaccination in Cyprus.
Read more about the article Sex-specific impact of prenatal androgens on social brain default mode subsystems.
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Sex-specific impact of prenatal androgens on social brain default mode subsystems.

Abstract Early-onset neurodevelopmental conditions (e.g., autism) affect males more frequently than females. Androgens may play a role in this male-bias by sex-differentially impacting early prenatal brain development, particularly neural circuits…

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Read more about the article Identification of nine new susceptibility loci for endometrial cancer.
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Identification of nine new susceptibility loci for endometrial cancer.

Abstract Endometrial cancer is the most commonly diagnosed cancer of the female reproductive tract in developed countries. Through genome-wide association studies (GWAS), we have previously identified eight risk loci for…

Continue ReadingIdentification of nine new susceptibility loci for endometrial cancer.
Read more about the article Degradation and remobilization of endogenous retroviruses by recombination during the earliest stages of a germ-line invasion.
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Degradation and remobilization of endogenous retroviruses by recombination during the earliest stages of a germ-line invasion.

Abstract Endogenous retroviruses (ERVs) are proviral sequences that result from colonization of the host germ line by exogenous retroviruses. The majority of ERVs represent defective retroviral copies. However, for most…

Continue ReadingDegradation and remobilization of endogenous retroviruses by recombination during the earliest stages of a germ-line invasion.
Read more about the article Receptor tyrosine kinase-Ras-PI 3 kinase-Akt signaling network in glioblastoma multiforme.
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Receptor tyrosine kinase-Ras-PI 3 kinase-Akt signaling network in glioblastoma multiforme.

Abstract Glioblastoma multiforme (GBM) is the most malignant form of the brain tumors and shows different genetic and epigenetic abnormalities. Gene amplification, genetic instability, disruption of apoptotic pathways, deregulated oncogene…

Continue ReadingReceptor tyrosine kinase-Ras-PI 3 kinase-Akt signaling network in glioblastoma multiforme.
Read more about the article Learning What to Attend to: From the Lab to the Classroom.
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Learning What to Attend to: From the Lab to the Classroom.

Abstract Research in adult cognitive neuroscience addresses the bidirectional relationship between attentional selection and prior knowledge gained from learning and experience. This research area is ready for integration with developmental…

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Read more about the article STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16.
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STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16.

Abstract We present three siblings afflicted with a disease characterized by cerebellar ataxia, cerebellar atrophy, pyramidal tract damage with increased lower limb tendon reflexes and onset of 31 to 57…

Continue ReadingSTUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16.