Read more about the article Sudden unexplained death in the young: epidemiology, aetiology and value of the clinically guided genetic screening.
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Sudden unexplained death in the young: epidemiology, aetiology and value of the clinically guided genetic screening.

Abstract To determine the incidence and the causes of sudden death (SD) in persons aged 1-35 years old and the diagnostic yield of clinically guided genetic screening in the sudden…

Continue ReadingSudden unexplained death in the young: epidemiology, aetiology and value of the clinically guided genetic screening.
Read more about the article Simple in vitro generation of human leukocyte antigen-G-expressing T-regulatory cells through pharmacological hypomethylation for adoptive cellular immunotherapy against graft-versus-host disease.
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Simple in vitro generation of human leukocyte antigen-G-expressing T-regulatory cells through pharmacological hypomethylation for adoptive cellular immunotherapy against graft-versus-host disease.

Abstract Major barriers in using classical FOXP3+ regulatory T cells (Tregs) in clinical practice are their low numbers in the circulation, the lack of specific cell surface markers for efficient…

Continue ReadingSimple in vitro generation of human leukocyte antigen-G-expressing T-regulatory cells through pharmacological hypomethylation for adoptive cellular immunotherapy against graft-versus-host disease.
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 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 A Novel Gene Mutation in a Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Presenting with Recurrent Respiratory Tract Infections.
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A Novel Gene Mutation in a Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Presenting with Recurrent Respiratory Tract Infections.

Abstract Congenital isolated adrenocorticotropic hormone deficiency (CIAD) is a rare disease characterized by low adrenocorticotropic hormone (ACTH) and cortisol levels. To date, recurrent pulmonary infections in infancy have not been…

Continue ReadingA Novel Gene Mutation in a Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Presenting with Recurrent Respiratory Tract Infections.
Read more about the article Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism.
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Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism.

Abstract Patients with rare diseases face health disparities and are often challenged to find accurate information about their condition. We aimed to use the best available evidence and community partnerships…

Continue ReadingDeveloping and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism.
Read more about the article Strobilurins as growth-promoting compounds: how Stroby regulates Arabidopsis leaf growth.
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Strobilurins as growth-promoting compounds: how Stroby regulates Arabidopsis leaf growth.

Abstract Strobilurins are an important class of agrochemical fungicides used throughout the world on a wide variety of crops as protection against fungal pathogens. In addition to this protective role,…

Continue ReadingStrobilurins as growth-promoting compounds: how Stroby regulates Arabidopsis leaf growth.
Read more about the article Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk.
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Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk.

Abstract The timing of puberty is a highly polygenic childhood trait that is epidemiologically associated with various adult diseases. Using 1000 Genomes Project-imputed genotype data in up to ∼370,000 women,…

Continue ReadingGenomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk.
Read more about the article Localization of the Werner Protein Together with H2AX in γ-Irradiation-Induced Neoplastic Transformed Human Mesenchymal Stem Cells.
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Localization of the Werner Protein Together with H2AX in γ-Irradiation-Induced Neoplastic Transformed Human Mesenchymal Stem Cells.

Abstract The H2A histone family, member X (H2AX), and Werner (WRN) are important proteins for genome and telomere maintenance. WRN has a major role in genome stability, particularly during DNA…

Continue ReadingLocalization of the Werner Protein Together with H2AX in γ-Irradiation-Induced Neoplastic Transformed Human Mesenchymal Stem Cells.