Read more about the article Identification of Ras suppressor-1 (RSU-1) as a potential breast cancer metastasis biomarker using a three-dimensional in vitro approach.
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Identification of Ras suppressor-1 (RSU-1) as a potential breast cancer metastasis biomarker using a three-dimensional in vitro approach.

Abstract Breast cancer (BC) is the most common malignant disease in women, with most patients dying from metastasis to distant organs, making discovery of novel metastasis biomarkers and therapeutic targets…

Continue ReadingIdentification of Ras suppressor-1 (RSU-1) as a potential breast cancer metastasis biomarker using a three-dimensional in vitro approach.
Read more about the article Intranasal oxytocin enhances intrinsic corticostriatal functional connectivity in women.
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Intranasal oxytocin enhances intrinsic corticostriatal functional connectivity in women.

Abstract Oxytocin may influence various human behaviors and the connectivity across subcortical and cortical networks. Previous oxytocin studies are male biased and often constrained by task-based inferences. Here, we investigate…

Continue ReadingIntranasal oxytocin enhances intrinsic corticostriatal functional connectivity in women.
Read more about the article C1q ablation exacerbates amyloid deposition: A study in a transgenic mouse model of ATTRV30M amyloid neuropathy.
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C1q ablation exacerbates amyloid deposition: A study in a transgenic mouse model of ATTRV30M amyloid neuropathy.

Abstract ATTRV30M amyloid neuropathy is a lethal autosomal dominant sensorimotor and autonomic neuropathy, caused by deposition of amyloid fibrils composed of aberrant transthyretin (TTR). Ages of onset and penetrance exhibit…

Continue ReadingC1q ablation exacerbates amyloid deposition: A study in a transgenic mouse model of ATTRV30M amyloid neuropathy.
Read more about the article Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.
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Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.

Abstract Pathogenic variants in genes encoding subunits of the spliceosome are the cause of several human diseases, such as neurodegenerative diseases. The RNA splicing process is facilitated by the spliceosome,…

Continue ReadingHeterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.
Read more about the article Laying in silico pipelines for drug repositioning: a paradigm in ensemble analysis for neurodegenerative diseases.
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Laying in silico pipelines for drug repositioning: a paradigm in ensemble analysis for neurodegenerative diseases.

Abstract When faced with time- and money-consuming problems, new practices in pharmaceutical R&D arose when trying to alleviate them. Drug repositioning has great promise and when combined with today's computational…

Continue ReadingLaying in silico pipelines for drug repositioning: a paradigm in ensemble analysis for neurodegenerative diseases.
Read more about the article Late Onset Tremor and Ataxia Syndrome: FXTAS and its Ignored Peripheral Nervous System Findings in Diagnostic Criteria.
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Late Onset Tremor and Ataxia Syndrome: FXTAS and its Ignored Peripheral Nervous System Findings in Diagnostic Criteria.

Abstract

Continue ReadingLate Onset Tremor and Ataxia Syndrome: FXTAS and its Ignored Peripheral Nervous System Findings in Diagnostic Criteria.
Read more about the article CDKN2A and MC1R variants found in Cypriot patients diagnosed with cutaneous melanoma.
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CDKN2A and MC1R variants found in Cypriot patients diagnosed with cutaneous melanoma.

Abstract The prevalence of genetic variants associated to cutaneous melanoma (CM) has never been determined within Cypriot melanomas. This study evaluates the frequency of variants in cyclin-dependent kinase inhibitor 2A…

Continue ReadingCDKN2A and MC1R variants found in Cypriot patients diagnosed with cutaneous melanoma.
Read more about the article Golgi-retained Cx32 mutants interfere with gene addition therapy for CMT1X.
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Golgi-retained Cx32 mutants interfere with gene addition therapy for CMT1X.

Abstract Numerous GJB1 gene mutations cause the X-linked form of Charcot-Marie-Tooth disease (CMT1X). GJB1 encodes connexin32 (Cx32), which forms trans-myelin gap junctions in Schwann cells. Most GJB1 mutations result in…

Continue ReadingGolgi-retained Cx32 mutants interfere with gene addition therapy for CMT1X.
Read more about the article A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population.
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A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population.

Abstract Recent data emphasize that thin basement membrane nephropathy (TBMN) should not be viewed as a form of benign familial hematuria since chronic renal failure (CRF) and even end-stage renal…

Continue ReadingA functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population.
Read more about the article Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.
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Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.

Abstract Spondylo-epi-metaphyseal dysplasia (SEMD) is a group of inherited skeletal diseases characterized by the anomalies in spine, epiphyses and metaphyses. SEMD is highly heterogeneous and >20 distinct entities have been…

Continue ReadingIdentification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.