The heterozygous R1441C mutation of leucine-rich repeat kinase 2 gene in a Chinese patient with Parkinson disease: A five-year follow-up and literatures review
Sign Up to like & getrecommendations! Published in 2017 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2016.12.009
Abstract: BACKGROUND Leucine-rich repeat kinase 2 gene (LRRK2) was recognized associated with both familial and sporadic Parkinson Disease (PD). Seven missense mutations (G2019S, R1441C, R1441G, R1441H, Y1699C, I2020T, N1437H) of it have been confirmed disease- causing.… read more here.
Keywords: kinase gene; leucine rich; disease; repeat kinase ... See more keywords
Spectrum of kinase gene rearrangements in a large series of paediatric inflammatory myofibroblastic tumours.
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DOI: 10.1111/his.14912
Abstract: INTRODUCTION Inflammatory myofibroblastic tumours (IMTs), being an exceptionally rare category of paediatric neoplasms, often contain druggable gene rearrangements involving tyrosine kinases. METHODS AND RESULTS This study presents a large consecutive series of IMTs which were… read more here.
Keywords: myofibroblastic tumours; series; kinase gene; gene rearrangements ... See more keywords
The Use of Optical Genome Mapping for the Detection of Tyrosine Kinase Gene Fusions in Myeloid/Lymphoid Neoplasms
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DOI: 10.1111/jcmm.70640
Abstract: Myeloid/Lymphoid Neoplasms with eosinophilia and involvement of Tyrosine Kinase gene fusions (MLN‐TK) is a WHO disease category including a diverse group of malignancies characterised by recurrent genomic rearrangements of tyrosine kinase (TK) genes such as… read more here.
Keywords: lymphoid neoplasms; tyrosine kinase; myeloid lymphoid; kinase gene ... See more keywords