Read more about the article Polyamine oxidase 5 loss-of-function mutations in Arabidopsis thaliana trigger metabolic and transcriptional reprogramming and promote salt stress tolerance.
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Polyamine oxidase 5 loss-of-function mutations in Arabidopsis thaliana trigger metabolic and transcriptional reprogramming and promote salt stress tolerance.

Abstract The family of polyamine oxidases (PAO) in Arabidopsis (AtPAO1-5) mediates polyamine (PA) back-conversion, which reverses the PA biosynthetic pathway from spermine and its structural isomer thermospermine (tSpm) into spermidine…

Continue ReadingPolyamine oxidase 5 loss-of-function mutations in Arabidopsis thaliana trigger metabolic and transcriptional reprogramming and promote salt stress tolerance.
Read more about the article Aetiology of Acute Respiratory Tract Infections in Hospitalised Children in Cyprus.
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Aetiology of Acute Respiratory Tract Infections in Hospitalised Children in Cyprus.

Abstract In order to improve clinical management and prevention of viral infections in hospitalised children improved etiological insight is needed. The aim of the present study was to assess the…

Continue ReadingAetiology of Acute Respiratory Tract Infections in Hospitalised Children in Cyprus.
Read more about the article Whole-blood fatty acids and inflammation in European children: the IDEFICS Study.
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Whole-blood fatty acids and inflammation in European children: the IDEFICS Study.

Abstract Fatty acids are hypothesized to influence cardiovascular disease risk because of their effect on inflammation. The aim of this study is to assess the relationship between whole-blood fatty acids…

Continue ReadingWhole-blood fatty acids and inflammation in European children: the IDEFICS Study.
Read more about the article Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis.
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Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis.

Abstract These recommendations highlight recent experience in genetic counselling for the severe autosomal-dominant, late-onset transthyretin familial amyloid polyneuropathy (TTR-FAP) disease, and present a structured approach towards identification and monitoring of…

Continue ReadingRecommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis.
Read more about the article Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? A European network approach to defining the epidemiology and management patterns for TTR-FAP.
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Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? A European network approach to defining the epidemiology and management patterns for TTR-FAP.

Abstract Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a highly disabling, life-threatening disease characterized by progressive sensorimotor and autonomic neuropathy. The profile of the disease across Europe is inadequately understood at…

Continue ReadingSixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? A European network approach to defining the epidemiology and management patterns for TTR-FAP.
Read more about the article Lessons learned–resolving the enigma of genetic factors in IBS.
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Lessons learned–resolving the enigma of genetic factors in IBS.

Abstract IBS is the most prevalent functional gastrointestinal disorder and phenotypically characterized by chronic abdominal discomfort, pain and altered defecation patterns. The pathophysiology of IBS is multifactorial, albeit with a…

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Read more about the article Adherence to combined lifestyle factors and their contribution to obesity in the IDEFICS study.
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Adherence to combined lifestyle factors and their contribution to obesity in the IDEFICS study.

Abstract The Identification and prevention of Dietary- and lifestyle-induced health EFfects In Children and infantS (IDEFICS) study investigated the aetiology of childhood obesity and developed a primary prevention programme. Pre-intervention…

Continue ReadingAdherence to combined lifestyle factors and their contribution to obesity in the IDEFICS study.
Read more about the article Fat, sugar and water intakes among families from the IDEFICS intervention and control groups: first observations from I.Family.
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Fat, sugar and water intakes among families from the IDEFICS intervention and control groups: first observations from I.Family.

Abstract The objective of this paper is to investigate differences in diets of families in intervention versus control communities 5 years after the Identification and Prevention of Dietary- and Lifestyle-Induced Health…

Continue ReadingFat, sugar and water intakes among families from the IDEFICS intervention and control groups: first observations from I.Family.
Read more about the article Differential outcome of the IDEFICS intervention in overweight versus non-overweight children: did we achieve ‘primary’ or ‘secondary’ prevention?
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Differential outcome of the IDEFICS intervention in overweight versus non-overweight children: did we achieve ‘primary’ or ‘secondary’ prevention?

Abstract The aim of this study was to explore whether the IDEFICS intervention had a differential effect on 11,041 children's weight trajectories depending on their baseline body mass index status.…

Continue ReadingDifferential outcome of the IDEFICS intervention in overweight versus non-overweight children: did we achieve ‘primary’ or ‘secondary’ prevention?
Read more about the article A novel variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder.
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A novel variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder.

Abstract Approximately 10-15% of intellectual disability (ID) cases are caused by genetic aberrations affecting chromosome X, a condition termed X-linked ID (XLID). Examination by whole-exome sequencing of two male siblings…

Continue ReadingA novel variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder.