Results 81 to 90 of about 483,589 (358)

MET and NF2 alterations confer primary and early resistance to first‐line alectinib treatment in ALK‐positive non‐small‐cell lung cancer

Molecular Oncology, EarlyView.
Alectinib resistance in ALK+ NSCLC depends on treatment sequence and EML4‐ALK variants. Variant 1 exhibited off‐target resistance after first‐line treatment, while variant 3 and later lines favored on‐target mutations. Early resistance involved off‐target alterations, like MET and NF2, while on‐target mutations emerged with prolonged therapy.
Jie Hu, Ning Ding, Xiaobo Xu, Yedan Chen, Yong Zhang, Jingwen Liu, Jiebai Zhou, Hairong Bao, Donghui Zhang, Yijun Song, Yang Shao, Yuanlin Song   +11 more
wiley   +1 more source

Tonic signaling of the B‐cell antigen‐specific receptor is a common functional hallmark in chronic lymphocytic leukemia cell phosphoproteomes at early disease stages

Molecular Oncology, EarlyView.
B‐cell chronic lymphocytic leukemia (B‐CLL) and monoclonal B‐cell lymphocytosis (MBL) show altered proteomes and phosphoproteomes, analyzed using mass spectrometry, protein microarrays, and western blotting. Identifying 2970 proteins and 316 phosphoproteins, including 55 novel phosphopeptides, we reveal BCR and NF‐kβ/STAT3 signaling in disease ...
Paula Díez, Pablo Juanes‐Velasco, Marina L. García‐Vaquero, Conrad Droste, Alicia Landeira‐Viñuela, Miguel Alcoceba, Helena Fidalgo‐Gómez, Sara Misiego‐Herrero, Almudena Navarro‐Bailón, Mónica Baile, José M. Bastida, Jose Manuel Sanchez‐Santos, Rafael Góngora, Julia Almeida, Marcos Gonzalez‐Diaz, Alberto Orfao, Javier De Las Rivas, Manuel Fuentes   +17 more
wiley   +1 more source

Whole‐exome sequencing identifies a donor splice‐site variant in SMPX that causes rare X‐linked congenital deafness

Molecular Genetics & Genomic Medicine, 2019
Background X‐linked deafness‐4 (DFNX4) caused by functional loss of SMPX is a nonsyndromic form of progressive hearing loss with post‐lingual onset.
Yuan Lv, Jia Gu, Hao Qiu, Huan Li, Zhitao Zhang, Shaowei Yin, Yan Mao, Lingyin Kong, Bo Liang, Hongkun Jiang, Caixia Liu   +10 more
doaj   +1 more source

Landscape of BRAF transcript variants in human cancer

Molecular Oncology, EarlyView.
We investigate the annotation of BRAF variants, focusing on protein‐coding BRAF‐220 (formerly BRAF‐reference) and BRAF‐204 (BRAF‐X1). The IsoWorm pipeline allows us to quantify these variants in human cancer, starting from RNA‐sequencing data. BRAF‐204 is more abundant than BRAF‐220 and impacts patient survival.
Maurizio S. Podda, Danilo Tatoni, Gianluca Mattei, Alberto Magi, Romina D'Aurizio, Laura Poliseno   +5 more
wiley   +1 more source

Convergence of Acquired Mutations and Alternative Splicing of CD19 Enables Resistance to CART-19 Immunotherapy.

Cancer Discovery, 2015
UNLABELLED The CD19 antigen, expressed on most B-cell acute lymphoblastic leukemias (B-ALL), can be targeted with chimeric antigen receptor-armed T cells (CART-19), but relapses with epitope loss occur in 10% to 20% of pediatric responders.
E. Sotillo, D. Barrett, K. Black, A. Bagashev, D. Oldridge, Glendon S. Wu, Robyn T. Sussman, Claudia B. Lanauze, M. Ruella, Matthew R. Gazzara, Nicole M. Martinez, Colleen T. Harrington, E. Y. Chung, Jessica Perazzelli, T. Hofmann, S. Maude, Pichai Raman, Alejandro Barrera, S. Gill, S. Lacey, J. Melenhorst, D. Allman, E. Jacoby, T. Fry, C. Mackall, Yoseph Barash, K. Lynch, J. Maris, S. Grupp, A. Thomas-Tikhonenko   +29 more
semanticscholar   +1 more source

Identification and analysis of splicing quantitative trait loci across multiple tissues in the human genome

Nature Communications, 2020
Alternative splicing (AS) is a fundamental step in eukaryotic mRNA biogenesis. Here, we develop an efficient and reproducible pipeline for the discovery of genetic variants that affect AS (splicing QTLs, sQTLs).
D. Garrido-Martín, Beatrice Borsari, Miquel Calvo, F. Reverter, R. Guigó   +4 more
semanticscholar   +1 more source

Design and Experimental Evolution of trans-Splicing Group I Intron Ribozymes

Molecules, 2017
Group I intron ribozymes occur naturally as cis-splicing ribozymes, in the form of introns that do not require the spliceosome for their removal. Instead, they catalyze two consecutive trans-phosphorylation reactions to remove themselves from a primary ...
Ulrich F. Müller
doaj   +1 more source

Paediatric BCOR‐associated sarcomas with a novel long spliced internal tandem duplication of BCOR exon 15

The Journal of Pathology: Clinical Research, 2022
Clear cell sarcoma of the kidney (CCSK) and primitive myxoid mesenchymal tumour of infancy (PMMTI) are paediatric sarcomas that most commonly harbour internal tandem duplications (ITDs) of exon 15 of the BCOR gene, in the range of 87–114 base pairs (bp).
Jian Yuan Goh, Chik Hong Kuick, Masahiro Sugiura, Sze Jet Aw, Manli Zhao, Hongfeng Tang, Sandini Gunaratne, Fucun Zhu, Lin Cai, Bin Tean Teh, Paul S Thorner, Kenneth Tou En Chang   +11 more
doaj   +1 more source

Simultaneous inhibition of TRIM24 and TRIM28 sensitises prostate cancer cells to antiandrogen therapy, decreasing VEGF signalling and angiogenesis

Molecular Oncology, EarlyView.
TRIM24 and TRIM28 are androgen receptor (AR) coregulators which exhibit increased expression with cancer progression. Both TRIM24 and TRIM28 combine to influence the response of castrate‐resistant prostate cancer (CRPC) cells to AR inhibitors by mediating AR signalling, regulation of MYC and upregulating VEGF to promote angiogenesis. Castrate‐resistant
Damien A. Leach, Nilesh Chatterjee, Kellie Spahr, Gilberto Serrano de Almeida, Anabel Varela‐Carver, Taimur T. Shah, Mathias Winkler, Hashim U. Ahmed, Charlotte L. Bevan   +8 more
wiley   +1 more source

A Novel Splice-Site Mutation in the ELN Gene Suggests an Alternative Mechanism for Vascular Elastinopathies

The Application of Clinical Genetics, 2020
Camilo Andres Velandia-Piedrahita,1 Adrien Morel,2,* Dora Janeth Fonseca-Mendoza,2,* Victor Manuel Huertas-Quiñones,3– 5 David Castillo,6 Juan Diego Bonilla,7 Camilo José Hernandez-Toro,1 Marta Catalina Miranda-Fernández,1 ...
Velandia-Piedrahita CA, Morel A, Fonseca-Mendoza DJ, Huertas-Quiñones VM, Castillo D, Bonilla JD, Hernandez-Toro CJ, Miranda-Fernández MC, Restrepo CM, Cabrera R   +9 more
doaj