Read more about the article Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report.
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Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report.

Abstract Fanconi anemia (FA) is a rare disorder characterized by multiple congenital malformations, progressive bone marrow failure and susceptibility to malignancies. Biallelic mutations in the breast cancer 2, early onset…

Continue ReadingFanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report.
Read more about the article Double faced role of human mesenchymal stem cells and their role challenges in cancer therapy.
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Double faced role of human mesenchymal stem cells and their role challenges in cancer therapy.

Abstract Human mesenchymal stem cells (hMSCs) are multipotent non-hematopoietic precursor cells with the ability to differentiate into several tissue types. The use of hMSCs has gained significant importance in cancer…

Continue ReadingDouble faced role of human mesenchymal stem cells and their role challenges in cancer therapy.
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 No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.
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No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.

Abstract BRCA1 interacting protein C-terminal helicase 1 (BRIP1) is one of the Fanconi Anaemia Complementation (FANC) group family of DNA repair proteins. Biallelic mutations in BRIP1 are responsible for FANC…

Continue ReadingNo evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.
Read more about the article Transmembrane protein TMEM170A is a newly discovered regulator of ER and nuclear envelope morphogenesis in human cells.
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Transmembrane protein TMEM170A is a newly discovered regulator of ER and nuclear envelope morphogenesis in human cells.

Abstract The mechanism of endoplasmic reticulum (ER) morphogenesis is incompletely understood. ER tubules are shaped by the reticulons (RTNs) and DP1/Yop1p family members, but the mechanism of ER sheet formation…

Continue ReadingTransmembrane protein TMEM170A is a newly discovered regulator of ER and nuclear envelope morphogenesis in human cells.
Read more about the article Liver cancer cells are sensitive to Lanatoside C induced cell death independent of their PTEN status.
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Liver cancer cells are sensitive to Lanatoside C induced cell death independent of their PTEN status.

Abstract Hepatocellular carcinoma is the second deadliest cancer with limited treatment options. Loss of PTEN causes the P13K/Akt pathway to be hyperactive which contributes to cell survival and resistance to…

Continue ReadingLiver cancer cells are sensitive to Lanatoside C induced cell death independent of their PTEN status.
Read more about the article Early Life Factors and Inter-Country Heterogeneity in BMI Growth Trajectories of European Children: The IDEFICS Study.
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Early Life Factors and Inter-Country Heterogeneity in BMI Growth Trajectories of European Children: The IDEFICS Study.

Abstract Starting from birth, this explorative study aimed to investigate between-country differences in body mass index (BMI) trajectories and whether early life factors explain these differences. The sample included 7,644…

Continue ReadingEarly Life Factors and Inter-Country Heterogeneity in BMI Growth Trajectories of European Children: The IDEFICS Study.