29 results match your criteria: "University Hospitals and KU Leuven.[Affiliation]"

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Nat Genet

October 2016

Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.

Article Synopsis
  • Recent findings suggest that specific mutations in genes related to ribosome function can lead to distinct human diseases.
  • One such gene, SNORD118, encodes a small nucleolar RNA called U8, which is crucial for ribosome biogenesis.
  • Mutations in SNORD118 lead to a rare condition known as leukoencephalopathy with calcifications and cysts (LCC), affecting individuals from early childhood to adulthood by disrupting U8 production and its role in maintaining healthy brain blood vessels.*
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Purpose: We evaluated the influence of RAS mutation status on the treatment effect of panitumumab in a prospective-retrospective analysis of a randomized, multicenter phase III study of panitumumab plus fluorouracil, leucovorin, and irinotecan (FOLFIRI) versus FOLFIRI alone as second-line therapy in patients with metastatic colorectal cancer (mCRC; ClinicalTrials.gov, NCT0039183).

Experimental Design: Outcomes were from the study's primary analysis.

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Background: The oral multikinase inhibitor regorafenib improves overall survival (OS) in patients with metastatic colorectal cancer (CRC) for which all standard treatments have failed. This study investigated regorafenib plus modified FOLFOX (mFOLFOX6) as first-line treatment of metastatic CRC.

Methods: In this single-arm, open-label, multicentre, phase II study, patients received mFOLFOX6 on days 1 and 15, and regorafenib 160 mg orally once daily on days 4-10 and 18-24 of each 28-day cycle.

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Unmet needs and challenges in gastric cancer: the way forward.

Cancer Treat Rev

July 2014

Biomedical Research Institute IINCLIVA, University of Valencia, Valencia, Spain. Electronic address:

Although the incidence of gastric cancer has fallen steadily in developed countries over the past 50 years, outcomes in Western countries remain poor, primarily due to the advanced stage of the disease at presentation. While earlier diagnosis would help to improve outcomes for patients with gastric cancer, better understanding of the biology of the disease is also needed, along with advances in therapy. Indeed, progress in the treatment of gastric cancer has been limited, mainly because of its genetic complexity and heterogeneity.

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