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Maternal mutations of FOXF1 cause alveolar capillary dysplasia despite not being imprinted human mutation
(Wiley, 2017)
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare cause of pulmonary hypertension in newborns. Maternally inherited point mutations in Forkhead Box F1 gene (FOXF1), ...
Genetic and clinical heterogeneity in thirteen new cases with aceruloplasminemia. Atypical anemia as a clue for an early diagnosis
(MDPI, 2020)
Aceruloplasminemia is a rare autosomal recessive genetic disease characterized by mild microcytic anemia, diabetes, retinopathy, liver disease, and progressive neurological symptoms due to iron accumulation ...
Molecular evolution of multiple-level control of heme biosynthesis pathway in animal kingdom
(Public Library of Science, 2014)
Adaptation of enzymes in a metabolic pathway can occur not only through changes in amino acid sequences but also through variations in transcriptional activation, mRNA splicing and mRNA translation. The ...
Cognitive phenotypes 1 month after ICU discharge in mechanically ventilated patients: a prospective observational cohort study
(Springer Nature, 2020)
Background: ICU patients undergoing invasive mechanical ventilation experience cognitive decline associated with their critical illness and its management. The early detection of different cognitive ...
Biofunctionalization strategies on tantalum-based materials for osseointegrative applications
(Springer Nature, 2015)
The use of tantalum as biomaterial for orthopedic applications is gaining considerable attention in the clinical practice because it presents an excellent chemical stability, body fluid resistance, ...
Atypical cyclins: the extended family portrait
(Springer Nature, 2020)
Regulation of cell division is orchestrated by cyclins, which bind and activate their catalytic workmates, the cyclin-dependent kinases (CDKs). Cyclins have been traditionally defined by an oscillating ...
Impact of a multifaceted antimicrobial stewardship intervention in a primary health care area: a quasi-experimental study
(Frontiers Media, 2020-04-02)
The aim of the study was to evaluate the impact of a multifaceted antimicrobial stewardship intervention on antibiotic consumption in a primary health care (PHC) area in Spain. Quasi-experimental study ...
The Efficacy of the proprioceptive neuromuscular facilitation (PNF) approach in stroke rehabilitation to improve basic activities of daily living and quality of life: a systematic review and meta-analysis protocol
(BMJ Publishing Group, 2017-12)
Introduction Proprioceptive neuromuscular facilitation
(PNF) is a widely used rehabilitation concept, although its
efficacy has not yet been demonstrated in stroke survivors.
The aim of this systematic ...
A truncated form of IKKa is responsible for specific nuclear IKK activity in colorectal cancer
(Elsevier, 2012-10-25)
Nuclear IKKα regulates gene transcription by phosphorylating specific substrates and has been linked to cancer progression and metastasis. However, the mechanistic connection between tumorigenesis and ...
Therapeutically relevant aspects in bone repair and regeneration
(Springer Nature, 2015-12)
Over the past few years, attention has been focused on the therapeutic roles in designing bone scaffolds for successful repair and regeneration. Indeed, biologically dynamic events in the bone healing ...