Read more about the article Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement.
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Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement.

Abstract Precise characterization of apparently balanced complex chromosomal rearrangements in non-affected individuals is crucial as they may result in reproductive failure, recurrent miscarriages or affected offspring. We present a family,…

Continue ReadingCryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement.
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…

Continue ReadingSex-specific impact of prenatal androgens on social brain default mode subsystems.
Read more about the article A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer.
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A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer.

Abstract The breast cancer risk variants identified in genome-wide association studies explain only a small fraction of the familial relative risk, and the genes responsible for these associations remain largely…

Continue ReadingA transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer.
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 The possible role of an autoimmune mechanism in the etiopathogenesis of Parkinson’s disease.
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The possible role of an autoimmune mechanism in the etiopathogenesis of Parkinson’s disease.

Abstract The clinical diagnosis of Parkinson's disease (PD) is established through clinical signs such as bradykinesia, rigidity, and resting tremor. Recently, immune system involvement has been implicated as a major…

Continue ReadingThe possible role of an autoimmune mechanism in the etiopathogenesis of Parkinson’s disease.
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…

Continue ReadingLearning What to Attend to: From the Lab to the Classroom.
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.
Read more about the article The Interactions between Bone Remodelling, Estrogen Hormone and EPH Family Genes.
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The Interactions between Bone Remodelling, Estrogen Hormone and EPH Family Genes.

Abstract Osteoporosis is a major health issue, especially in older women. The absence of estrogen is the main cause of menopausal osteoporosis. Estrogen and androgen hormones play major roles during…

Continue ReadingThe Interactions between Bone Remodelling, Estrogen Hormone and EPH Family Genes.