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http://dx.doi.org/10.1016/j.oraloncology.2024.106937 | DOI Listing |
J Med Genet
January 2025
Department of Gastroenterology, Hospital Clínic de Barcelona, Centro de Investigación Biomédica en Red en Enfermedades Hepáticas y Digestivas (CIBERehd), Institut Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain
Science
January 2025
Spanish National Cancer Research Center (CNIO), Madrid, Spain.
Germline structural variants are a risk factor for pediatric extracranial solid tumors.
View Article and Find Full Text PDFNeurol Genet
February 2025
Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira.
Background And Objectives: Becker muscular dystrophy (BMD) is an allelic disorder of Duchenne muscular dystrophy (DMD) in which pathogenic variants in cause progressive worsening of motor dysfunction, muscle weakness and atrophy, and death due to respiratory and cardiac failure. BMD often has in-frame deletions that preserve the amino acid reading frame, but there are some cases with microvariants or duplications. In recent years, the importance of therapeutic development and care for BMD has been emphasized.
View Article and Find Full Text PDFBr J Haematol
December 2024
Hospital of University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Outcomes of myeloproliferative neoplasms (MPN)-associated acute leukaemias are dismal with conventional therapy. Approximately 20% of MPN-associated acute leukaemias have mutations in isocitrate dehydrogenase (IDH). Olutasidenib, and inhibitor of IDH1, demonstrates important clinical benefits in MPN-associated leukaemia with IDH1 mutation.
View Article and Find Full Text PDFTransl Lung Cancer Res
November 2024
Division of Medical Oncology, Duke Cancer Institute, Durham, NC, USA.
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