Read more about the article Genomic and genetic studies of systemic sclerosis: A systematic review.
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Genomic and genetic studies of systemic sclerosis: A systematic review.

Abstract Systemic sclerosis is an autoimmune rheumatic disease characterised by fibrosis, vasculopathy and inflammation. The exact aetiology of SSc remains unknown but evidences show that various genetic factors may be…

Continue ReadingGenomic and genetic studies of systemic sclerosis: A systematic review.
Read more about the article Prevalence of primary ciliary dyskinesia in consecutive referrals of suspect cases and the transmission electron microscopy detection rate: a systematic review and meta-analysis.
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Prevalence of primary ciliary dyskinesia in consecutive referrals of suspect cases and the transmission electron microscopy detection rate: a systematic review and meta-analysis.

Abstract Diagnostic testing for primary ciliary dyskinesia (PCD) usually includes transmission electron microscopy (TEM), nasal nitric oxide, high-speed video microscopy, and genetics. Diagnostic performance of each test should be assessed…

Continue ReadingPrevalence of primary ciliary dyskinesia in consecutive referrals of suspect cases and the transmission electron microscopy detection rate: a systematic review and meta-analysis.
Read more about the article Functional characterisation of long intergenic non-coding RNAs through genetic interaction profiling in Saccharomyces cerevisiae.
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Functional characterisation of long intergenic non-coding RNAs through genetic interaction profiling in Saccharomyces cerevisiae.

Abstract Transcriptome studies have revealed that many eukaryotic genomes are pervasively transcribed producing numerous long non-coding RNAs (lncRNAs). However, only a few lncRNAs have been ascribed a cellular role thus…

Continue ReadingFunctional characterisation of long intergenic non-coding RNAs through genetic interaction profiling in Saccharomyces cerevisiae.
Read more about the article Targeted capture enrichment assay for non-invasive prenatal testing of large and small size sub-chromosomal deletions and duplications.
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Targeted capture enrichment assay for non-invasive prenatal testing of large and small size sub-chromosomal deletions and duplications.

Abstract Noninvasive prenatal testing (NIPT) using whole genome and targeted sequencing has become increasingly accepted for clinical detection of Trisomy 21 and sex chromosome aneuploidies. Few studies have shown that…

Continue ReadingTargeted capture enrichment assay for non-invasive prenatal testing of large and small size sub-chromosomal deletions and duplications.
Read more about the article Novel TBX3 mutation in a family of Cypriot ancestry with ulnar-mammary syndrome.
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Novel TBX3 mutation in a family of Cypriot ancestry with ulnar-mammary syndrome.

Abstract Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder resulting from TBX3 haploinsufficiency. It typically affects limb, apocrine gland, hair, tooth and genital development and shows marked intrafamilial and interfamilial…

Continue ReadingNovel TBX3 mutation in a family of Cypriot ancestry with ulnar-mammary syndrome.
Read more about the article Letter to the editor regarding the article "A case of hypertrophic and dilated cardiomyopathic sudden cardiac death: de novo mutation in TTN and SGCD genes".
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Letter to the editor regarding the article "A case of hypertrophic and dilated cardiomyopathic sudden cardiac death: de novo mutation in TTN and SGCD genes".

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Abstract

Continue ReadingLetter to the editor regarding the article "A case of hypertrophic and dilated cardiomyopathic sudden cardiac death: de novo mutation in TTN and SGCD genes".
Read more about the article Mouse Stbd1 is -myristoylated and affects ER-mitochondria association and mitochondrial morphology.
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Mouse Stbd1 is -myristoylated and affects ER-mitochondria association and mitochondrial morphology.

Abstract Starch binding domain-containing protein 1 (Stbd1) is a carbohydrate-binding protein that has been proposed to be a selective autophagy receptor for glycogen. Here, we show that mouse Stbd1 is…

Continue ReadingMouse Stbd1 is -myristoylated and affects ER-mitochondria association and mitochondrial morphology.
Read more about the article HLA-G variability and haplotypes detected by massively parallel sequencing procedures in the geographicaly distinct population samples of Brazil and Cyprus.
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HLA-G variability and haplotypes detected by massively parallel sequencing procedures in the geographicaly distinct population samples of Brazil and Cyprus.

Abstract The HLA-G molecule presents immunomodulatory properties that might inhibit immune responses when interacting with specific Natural Killer and T cell receptors, such as KIR2DL4, ILT2 and ILT4. Thus, HLA-G…

Continue ReadingHLA-G variability and haplotypes detected by massively parallel sequencing procedures in the geographicaly distinct population samples of Brazil and Cyprus.
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.