Search Results - "Dachy, Guillaume"
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PDGF receptor mutations in human diseases
Published in Cellular and molecular life sciences : CMLS (01-04-2021)“…PDGFRA and PDGFRB are classical proto-oncogenes that encode receptor tyrosine kinases responding to platelet-derived growth factor (PDGF). PDGFRA mutations are…”
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PDGFRB gain-of-function mutations in sporadic infantile myofibromatosis
Published in Human molecular genetics (15-05-2017)“…Infantile myofibromatosis is one of the most prevalent soft tissue tumors of infancy and childhood. Multifocal nodules with visceral lesions are associated…”
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Inflammation‐induced cholestasis in cancer cachexia
Published in Journal of cachexia, sarcopenia and muscle (01-02-2021)“…Background Cancer cachexia is a debilitating metabolic syndrome contributing to cancer death. Organs other than the muscle may contribute to the pathogenesis…”
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Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group
Published in Familial cancer (01-10-2021)“…Infantile myofibromatosis (IM), which is typically diagnosed in young children, comprises a wide clinical spectrum ranging from inconspicuous solitary soft…”
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Diagnostic limitations and considerations in the imaging evaluation of advanced multicentric infantile myofibromatosis
Published in Radiology case reports (01-11-2020)“…Infantile myofibromatosis, the most common fibrous tumor of infancy, is classified in 2 forms; as a solitary nodule or as numerous, widely-distributed…”
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Vanishing bile duct syndrome associated with diffuse large B‐cell lymphoma
Published in British journal of haematology (01-05-2016)Get full text
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Novel COL4A1‐VEGFD gene fusion in myofibroma
Published in Journal of cellular and molecular medicine (01-05-2021)“…Myofibroma is a benign pericytic tumour affecting young children. The presence of multicentric myofibromas defines infantile myofibromatosis (IMF), which is a…”
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Penttinen syndrome‐associated PDGFRB Val665Ala variant causes aberrant constitutive STAT1 signalling
Published in Journal of cellular and molecular medicine (01-07-2022)“…Penttinen syndrome is a rare progeroid disorder caused by mutations in platelet‐derived growth factor (PDGF) receptor beta (encoded by the PDGFRB…”
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Severe hypercalcaemia early after kidney transplantation in two patients with severe secondary hyperparathyroidism previously treated with etelcalcetide
Published in Clinical kidney journal (01-08-2021)“…Cinacalcet and, more recently, etelcalcetide revolutionized the treatment of chronic kidney disease-mineral and bone disorder (CKD-MBD). Kidney transplant (KT)…”
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Unwanted acquired mutations in Ba/F3 transformation assays
Published in Oncotarget (28-03-2017)Get full text
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