Read more about the article A start codon CMT1X mutation associated with transient encephalomyelitis causes complete loss of Cx32.
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A start codon CMT1X mutation associated with transient encephalomyelitis causes complete loss of Cx32.

Abstract X-linked Charcot-Marie-Tooth disease (CMTX1) results from numerous mutations in the GJB1 gene encoding the gap junction protein connexin32 (Cx32) and is one of the commonest forms of inherited neuropathy.…

Continue ReadingA start codon CMT1X mutation associated with transient encephalomyelitis causes complete loss of Cx32.
Read more about the article Anti-inflammatory and cytoprotective properties of hydrogen sulfide.
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Anti-inflammatory and cytoprotective properties of hydrogen sulfide.

Abstract Hydrogen sulfide is an endogenous gaseous mediator that plays important roles in many physiological processes in microbes, plants, and animals. This chapter focuses on the important roles of hydrogen…

Continue ReadingAnti-inflammatory and cytoprotective properties of hydrogen sulfide.
Read more about the article In vivo allergenic activity of a hypoallergenic mutant of the major fish allergen Cyp c 1 evaluated by means of skin testing.
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In vivo allergenic activity of a hypoallergenic mutant of the major fish allergen Cyp c 1 evaluated by means of skin testing.

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Abstract

Continue ReadingIn vivo allergenic activity of a hypoallergenic mutant of the major fish allergen Cyp c 1 evaluated by means of skin testing.
Read more about the article Prediction of autism by translation and immune/inflammation coexpressed genes in toddlers from pediatric community practices.
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Prediction of autism by translation and immune/inflammation coexpressed genes in toddlers from pediatric community practices.

Abstract The identification of genomic signatures that aid early identification of individuals at risk for autism spectrum disorder (ASD) in the toddler period remains a major challenge because of the…

Continue ReadingPrediction of autism by translation and immune/inflammation coexpressed genes in toddlers from pediatric community practices.
Read more about the article Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management–A KDIGO consensus report.
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Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management–A KDIGO consensus report.

Abstract Rare autosomal dominant tubulointerstitial kidney disease is caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), and mucin-1 (MUC1). Multiple names have been…

Continue ReadingAutosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management–A KDIGO consensus report.
Read more about the article In silico analysis of a novel MKRN3 missense mutation in familial central precocious puberty.
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In silico analysis of a novel MKRN3 missense mutation in familial central precocious puberty.

Abstract The onset of puberty is influenced by the interplay of stimulating and restraining factors, many of which have a genetic origin. Premature activation of the GnRH secretion in central…

Continue ReadingIn silico analysis of a novel MKRN3 missense mutation in familial central precocious puberty.
Read more about the article TAS1R3 and UCN2 Transcript Levels in Blood Cells Are Associated With Sugary and Fatty Food Consumption in Children.
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TAS1R3 and UCN2 Transcript Levels in Blood Cells Are Associated With Sugary and Fatty Food Consumption in Children.

Abstract New types of dietary exposure biomarkers are needed to implement effective strategies for obesity prevention in children. Of special interest are biomarkers of consumption of food rich in simple…

Continue ReadingTAS1R3 and UCN2 Transcript Levels in Blood Cells Are Associated With Sugary and Fatty Food Consumption in Children.
Read more about the article SPARC ectopic overexpression inhibits growth and promotes programmed cell death in acute myeloid leukemia transformed from myelodysplastic syndrome cells, alone and in combination with Ara-C treatment.
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SPARC ectopic overexpression inhibits growth and promotes programmed cell death in acute myeloid leukemia transformed from myelodysplastic syndrome cells, alone and in combination with Ara-C treatment.

Abstract Secreted protein acidic and rich in cysteine (SPARC) has a complex and pleiotropic biological role in cell life during disease. The role of SPARC in myelodysplastic syndrome (MDS) is…

Continue ReadingSPARC ectopic overexpression inhibits growth and promotes programmed cell death in acute myeloid leukemia transformed from myelodysplastic syndrome cells, alone and in combination with Ara-C treatment.
Read more about the article A novel family of katanin-like 2 protein isoforms (KATNAL2), interacting with nucleotide-binding proteins Nubp1 and Nubp2, are key regulators of different MT-based processes in mammalian cells.
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A novel family of katanin-like 2 protein isoforms (KATNAL2), interacting with nucleotide-binding proteins Nubp1 and Nubp2, are key regulators of different MT-based processes in mammalian cells.

Abstract Katanins are microtubule (MT)-severing AAA proteins with high phylogenetic conservation throughout the eukaryotes. They have been functionally implicated in processes requiring MT remodeling, such as spindle assembly in mitosis…

Continue ReadingA novel family of katanin-like 2 protein isoforms (KATNAL2), interacting with nucleotide-binding proteins Nubp1 and Nubp2, are key regulators of different MT-based processes in mammalian cells.
Read more about the article Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure.
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Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure.

Abstract A subset of patients who present with proteinuria and are diagnosed with focal segmental glomerulosclerosis (FSGS) have inherited heterozygous COL4A3/A4 mutations and are also diagnosed with thin basement membrane…

Continue ReadingCo-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure.