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The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2
(Ferrata Storti Foundation, 2018)
variants have previously been described in patients with myopathy, lactic acidosis and sideroblastic anemia 2 (MLASA2). encodes the mitochondrial tyrosyl-tRNA synthetase, which is responsible for ...
Histological comparison of in vitro and in vivo development of peripheral posterior capsule opacification in human donor tissue
(Elsevier, 2019)
In order to study the mechanisms involved in the development of posterior capsule opacification (PCO) we compared in vivo developed PCO with PCO formed in tissue culture with focus on the periphery of ...
Exploring the link between MORF4L1 and risk of breast cancer
(Springer Nature, 2011)
Introduction: Proteins encoded by Fanconi anemia (FA) and/or breast cancer (BrCa) susceptibility genes cooperate in a common DNA damage repair signaling pathway. To gain deeper insight into this pathway ...
Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1
(Springer Nature, 2018)
BRCA1 is a tumor suppressor that regulates DNA repair by homologous recombination. Germline mutations in BRCA1 are associated with increased risk of breast and ovarian cancer and BRCA1 deficient tumors ...
Impact of a long-term tobacco-free policy at a comprehensive cancer center: a series of cross-sectional surveys
(Springer Nature, 2014)
Background: Spain has passed two smoke-free laws in the last years. In 2005, the law banned smoking in indoor places, and in 2010 the ban was extended to outdoor areas of certain premises such as ...
Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia
(Ferrata Storti Foundation, 2011)
Congenital sideroblastic anemias are rare disorders with several genetic causes; they are characterized by erythroblast mitochondrial iron overload, differ greatly in severity and some occur within a ...
Combined aerobic exercise and high-intensity respiratory muscle training in patients surgically treated for non-small cell lung cancer: a pilot randomized clinical trial
(Edizioni Minerva Medica, 2019)
BACKGROUND: Lung resection surgery further decreases exercise capacity and negatively affects respiratory muscle function in patients with non-small cell lung cancer (NSCLC). The best design for exercise ...
Respiratory muscle strength training and neuromuscular electrical stimulation in subacute dysphagic stroke patients: a randomized controlled trial
(SAGE Publications, 2016)
Objective: To evaluate the effectiveness of inspiratory/expiratory muscle training (IEMT) and neuromuscular electrical stimulation (NMES) to improve dysphagia in stroke. Design: Prospective, single-blind, ...
High-intensity vs. sham inspiratory muscle training in patients with chronic heart failure: a prospective randomized trial
(Wiley, 2014)
Aims: The purpose of this study was to evaluate the effectiveness, feasibility, and safety of a 4-week high-intensity inspiratory muscle training (hi-IMT) in patients with chronic heart failure (CHF). ...
Prospective study of shoulder strength, shoulder range of motion, and lymphedema in breast cancer patients from pre-surgery to 5 years after ALND or SLNB
(Springer Nature, 2018)
Objective: Determine the changes in shoulder strength, shoulder range of motion, and arm volume in breast cancer patients treated with sentinel lymph node biopsy (SLNB) or axillary lymph node dissection ...