Read more about the article Polyunsaturated fatty acid status at birth, childhood growth, and cardiometabolic risk: a pooled analysis of the MEFAB and RHEA cohorts.
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Polyunsaturated fatty acid status at birth, childhood growth, and cardiometabolic risk: a pooled analysis of the MEFAB and RHEA cohorts.

Abstract Polyunsaturated fatty acid (PUFA) status during pregnancy has been suggested to influence offspring obesity and cardiometabolic health. We assessed whether prenatal PUFA exposure is associated with rapid infant growth,…

Continue ReadingPolyunsaturated fatty acid status at birth, childhood growth, and cardiometabolic risk: a pooled analysis of the MEFAB and RHEA cohorts.
Read more about the article COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?
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COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?

Abstract About 40-50% of patients with familial microscopic hematuria (FMH) caused by thin basement membrane nephropathy (TBMN) inherit heterozygous mutations in collagen IV genes (COL4A3, COL4A4). On long follow-up, the…

Continue ReadingCOL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?
Read more about the article Neurotransmitter receptor genotypes associated with mental and behavioral disorders.
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Neurotransmitter receptor genotypes associated with mental and behavioral disorders.

Abstract Investigation of association studies within the field of mental and behavioral disorders is of value given their complex molecular etiology including epistatic interactions of multiple genes with small effects.…

Continue ReadingNeurotransmitter receptor genotypes associated with mental and behavioral disorders.
Read more about the article A 74-Year-Old Female with a Well Circumscribed Parietal Lobe Mass.
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A 74-Year-Old Female with a Well Circumscribed Parietal Lobe Mass.

Abstract

Continue ReadingA 74-Year-Old Female with a Well Circumscribed Parietal Lobe Mass.
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.