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.
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…

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Read more about the article The Wonders of Silk Fibroin Biomaterials in the Treatment of Breast Cancer.
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The Wonders of Silk Fibroin Biomaterials in the Treatment of Breast Cancer.

Abstract Breast cancer has continued to be a cause of increasing morbidity and mortality in women, being the most common cause of cancer-related deaths among them. Its management using chemotherapy…

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Read more about the article Fast Temperature-Gradient COLD PCR for the enrichment of the paternally inherited SNPs in cell free fetal DNA; an application to non-invasive prenatal diagnosis of β-thalassaemia.
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Fast Temperature-Gradient COLD PCR for the enrichment of the paternally inherited SNPs in cell free fetal DNA; an application to non-invasive prenatal diagnosis of β-thalassaemia.

Abstract To develop a sensitive, specific, simple, cost-effective and reproducible platform for the non-invasive prenatal detection of paternally inherited alleles for β-thalassaemia. The development of such an assay is of…

Continue ReadingFast Temperature-Gradient COLD PCR for the enrichment of the paternally inherited SNPs in cell free fetal DNA; an application to non-invasive prenatal diagnosis of β-thalassaemia.
Read more about the article Intrathecal Delivery of Viral Vectors for Gene Therapy.
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Intrathecal Delivery of Viral Vectors for Gene Therapy.

Abstract Gene delivery to the peripheral nervous system for therapeutic applications remains technically challenging but could eventually have a significant impact on the development of innovative treatments not only for…

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Read more about the article Annonacin promotes selective cancer cell death via NKA-dependent and SERCA-dependent pathways.
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Annonacin promotes selective cancer cell death via NKA-dependent and SERCA-dependent pathways.

Abstract In the healthcare sector, phytocompounds are known to be beneficial by contributing or alleviating a variety of diseases. Studies have demonstrated the progressive effects of phytocompounds on immune-related diseases…

Continue ReadingAnnonacin promotes selective cancer cell death via NKA-dependent and SERCA-dependent pathways.
Read more about the article Expert consensus guidelines for the genetic diagnosis of Alport syndrome.
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Expert consensus guidelines for the genetic diagnosis of Alport syndrome.

Abstract Recent expert guidelines recommend genetic testing for the diagnosis of Alport syndrome. Here, we describe current best practice and likely future developments. In individuals with suspected Alport syndrome, all…

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Read more about the article Adaptation and conservation insights from the koala genome.
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Adaptation and conservation insights from the koala genome.

Abstract The koala, the only extant species of the marsupial family Phascolarctidae, is classified as 'vulnerable' due to habitat loss and widespread disease. We sequenced the koala genome, producing a…

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Read more about the article Noninvasive Immunohistochemical Diagnosis and Novel Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.
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Noninvasive Immunohistochemical Diagnosis and Novel Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.

Abstract Autosomal dominant tubulointerstitial kidney disease caused by mucin-1 gene () mutations (ADTKD-) is characterized by progressive kidney failure. Genetic evaluation for ADTKD- specifically tests for a cytosine duplication that…

Continue ReadingNoninvasive Immunohistochemical Diagnosis and Novel Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.