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…

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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…

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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…

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Read more about the article Aniridia due to a novel microdeletion affecting regulatory enhancers: case report and review of the literature.
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Aniridia due to a novel microdeletion affecting regulatory enhancers: case report and review of the literature.

Abstract Aniridia is a rare congenital ocular malformation that follows an autosomal dominant mode of inheritance. Most patients carry pathogenic point mutations in the paired box 6 gene (), but…

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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.