Read more about the article Linking loggerhead locations: using multiple methods to determine the origin of sea turtles in feeding grounds.
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Linking loggerhead locations: using multiple methods to determine the origin of sea turtles in feeding grounds.

Abstract Many marine megavertebrate taxa, including sea turtles, disperse widely from their hatching or birthing locations but display natal homing as adults. We used flipper tagging, satellite tracking and genetics…

Continue ReadingLinking loggerhead locations: using multiple methods to determine the origin of sea turtles in feeding grounds.
Read more about the article A novel MKRN3 nonsense mutation causing familial central precocious puberty.
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A novel MKRN3 nonsense mutation causing familial central precocious puberty.

Abstract

Continue ReadingA novel MKRN3 nonsense mutation causing familial central precocious puberty.
Read more about the article Improving the Conservation of Mediterranean Chondrichthyans: The ELASMOMED DNA Barcode Reference Library.
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Improving the Conservation of Mediterranean Chondrichthyans: The ELASMOMED DNA Barcode Reference Library.

Abstract Cartilaginous fish are particularly vulnerable to anthropogenic stressors and environmental change because of their K-selected reproductive strategy. Accurate data from scientific surveys and landings are essential to assess conservation…

Continue ReadingImproving the Conservation of Mediterranean Chondrichthyans: The ELASMOMED DNA Barcode Reference Library.
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.